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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evaluation of the <italic>XRCC1</italic> gene as a phenotypic modifier in <italic>BRCA1/2</italic> mutation carriers. Results from the consortium of investigators of modifiers of <italic>BRCA1/BRCA2</italic></title><author><name sortKey="Osorio, A" sort="Osorio, A" uniqKey="Osorio A" first="A" last="Osorio">A. Osorio</name><affiliation><nlm:aff id="aff1"><institution>Human Genetics Group, Spanish National Cancer Centre, C/Melchor Fernández Almagro 3</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Spanish Network on Rare Diseases (CIBERER)</institution></nlm:aff></affiliation></author><author><name sortKey="Milne, R L" sort="Milne, R L" uniqKey="Milne R" first="R L" last="Milne">R L Milne</name><affiliation><nlm:aff id="aff3"><institution>Genetic and Molecular Epidemiology Group, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Alonso, R" sort="Alonso, R" uniqKey="Alonso R" first="R" last="Alonso">R. Alonso</name><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Pita, G" sort="Pita, G" uniqKey="Pita G" first="G" last="Pita">G. Pita</name><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Peterlongo, P" sort="Peterlongo, P" uniqKey="Peterlongo P" first="P" last="Peterlongo">P. Peterlongo</name><affiliation><nlm:aff id="aff5"><institution>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff6"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Teule, A" sort="Teule, A" uniqKey="Teule A" first="A" last="Teulé">A. Teulé</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Nathanson, K L" sort="Nathanson, K L" uniqKey="Nathanson K" first="K L" last="Nathanson">K L Nathanson</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Domchek, S M" sort="Domchek, S M" uniqKey="Domchek S" first="S M" last="Domchek">S M Domchek</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Rebbeck, T" sort="Rebbeck, T" uniqKey="Rebbeck T" first="T" last="Rebbeck">T. Rebbeck</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lasa, A" sort="Lasa, A" uniqKey="Lasa A" first="A" last="Lasa">A. Lasa</name><affiliation><nlm:aff id="aff9"><institution>Genetics Service, Hospital de la Santa Creu i Sant Pau</institution>, Barcelona,<country>España</country></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, I" sort="Konstantopoulou, I" uniqKey="Konstantopoulou I" first="I" last="Konstantopoulou">I. Konstantopoulou</name><affiliation><nlm:aff id="aff10"><institution>Molecular Diagnostics Lab IRRP, NCSR ‘Demokritos'</institution>, 15310 Agia Paraskevi,<country>Greece</country></nlm:aff></affiliation></author><author><name sortKey="Hogervorst, F B" sort="Hogervorst, F B" uniqKey="Hogervorst F" first="F B" last="Hogervorst">F B Hogervorst</name><affiliation><nlm:aff id="aff11"><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Verhoef, S" sort="Verhoef, S" uniqKey="Verhoef S" first="S" last="Verhoef">S. Verhoef</name><affiliation><nlm:aff id="aff12"><institution>Department of Clinical Genetics, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Dooren, M F" sort="Van Dooren, M F" uniqKey="Van Dooren M" first="M F" last="Van Dooren">M F Van Dooren</name><affiliation><nlm:aff id="aff13"><institution>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Jager, A" sort="Jager, A" uniqKey="Jager A" first="A" last="Jager">A. Jager</name><affiliation><nlm:aff id="aff14"><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Ausems, M G E M" sort="Ausems, M G E M" uniqKey="Ausems M" first="M G E M" last="Ausems">M G E M. Ausems</name><affiliation><nlm:aff id="aff15"><institution>Department of Medical Genetics, University Medical Center Utrecht</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Aalfs, C M" sort="Aalfs, C M" uniqKey="Aalfs C" first="C M" last="Aalfs">C M Aalfs</name><affiliation><nlm:aff id="aff16"><institution>Department of Clinical Genetics, Academic Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Asperen, C J" sort="Van Asperen, C J" uniqKey="Van Asperen C" first="C J" last="Van Asperen">C J Van Asperen</name><affiliation><nlm:aff id="aff17"><institution>Department Of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Vreeswijk, M" sort="Vreeswijk, M" uniqKey="Vreeswijk M" first="M" last="Vreeswijk">M. Vreeswijk</name><affiliation><nlm:aff id="aff18"><institution>Department of Human Genetics and Department of Toxicogenetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Waisfisz, Q" sort="Waisfisz, Q" uniqKey="Waisfisz Q" first="Q" last="Waisfisz">Q. Waisfisz</name><affiliation><nlm:aff id="aff19"><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Roozendaal, C E" sort="Van Roozendaal, C E" uniqKey="Van Roozendaal C" first="C E" last="Van Roozendaal">C E Van Roozendaal</name><affiliation><nlm:aff id="aff20"><institution>Department of Clinical Genetics, University Medical Center</institution>, Maastricht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, M J" sort="Ligtenberg, M J" uniqKey="Ligtenberg M" first="M J" last="Ligtenberg">M J Ligtenberg</name><affiliation><nlm:aff id="aff21"><institution>Department of Human Genetics and Pathology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Easton, D F" sort="Easton, D F" uniqKey="Easton D" first="D F" last="Easton">D F Easton</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Peock, S" sort="Peock, S" uniqKey="Peock S" first="S" last="Peock">S. Peock</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Cook, M" sort="Cook, M" uniqKey="Cook M" first="M" last="Cook">M. Cook</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Oliver, C T" sort="Oliver, C T" uniqKey="Oliver C" first="C T" last="Oliver">C T Oliver</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Frost, D" sort="Frost, D" uniqKey="Frost D" first="D" last="Frost">D. Frost</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Curzon, B" sort="Curzon, B" uniqKey="Curzon B" first="B" last="Curzon">B. Curzon</name><affiliation><nlm:aff id="aff24"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Evans, D G" sort="Evans, D G" uniqKey="Evans D" first="D G" last="Evans">D G Evans</name><affiliation><nlm:aff id="aff25"><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust</institution>, Manchester,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lalloo, F" sort="Lalloo, F" uniqKey="Lalloo F" first="F" last="Lalloo">F. Lalloo</name><affiliation><nlm:aff id="aff25"><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust</institution>, Manchester,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eeles, R" sort="Eeles, R" uniqKey="Eeles R" first="R" last="Eeles">R. Eeles</name><affiliation><nlm:aff id="aff26"><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Izatt, L" sort="Izatt, L" uniqKey="Izatt L" first="L" last="Izatt">L. Izatt</name><affiliation><nlm:aff id="aff27"><institution>Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Davidson, R" sort="Davidson, R" uniqKey="Davidson R" first="R" last="Davidson">R. Davidson</name><affiliation><nlm:aff id="aff28"><institution>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals</institution>, Glasgow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Adlard, J" sort="Adlard, J" uniqKey="Adlard J" first="J" last="Adlard">J. Adlard</name><affiliation><nlm:aff id="aff29"><institution>Yorkshire Regional Genetics Service</institution>, Leeds,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eccles, D" sort="Eccles, D" uniqKey="Eccles D" first="D" last="Eccles">D. Eccles</name><affiliation><nlm:aff id="aff30"><institution>Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ong, K R" sort="Ong, K R" uniqKey="Ong K" first="K-R" last="Ong">K-R Ong</name><affiliation><nlm:aff id="aff31"><institution>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Douglas, F" sort="Douglas, F" uniqKey="Douglas F" first="F" last="Douglas">F. Douglas</name><affiliation><nlm:aff id="aff32"><institution>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Downing, S" sort="Downing, S" uniqKey="Downing S" first="S" last="Downing">S. Downing</name><affiliation><nlm:aff id="aff33"><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital</institution>, Cambridge,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brewer, C" sort="Brewer, C" uniqKey="Brewer C" first="C" last="Brewer">C. Brewer</name><affiliation><nlm:aff id="aff34"><institution>Department of Clinical Genetics, Royal Devon and Exeter Hospital</institution>, Exeter,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Walker, L" sort="Walker, L" uniqKey="Walker L" first="L" last="Walker">L. Walker</name><affiliation><nlm:aff id="aff35"><institution>Oxford Regional Genetics Service, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, H" sort="Nevanlinna, H" uniqKey="Nevanlinna H" first="H" last="Nevanlinna">H. Nevanlinna</name><affiliation><nlm:aff id="aff36"><institution>Department of Obstetrics and Gynecology, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, K" sort="Aittom Ki, K" uniqKey="Aittom Ki K" first="K" last="Aittom Ki">K. Aittom Ki</name><affiliation><nlm:aff id="aff37"><institution>Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Couch, F J" sort="Couch, F J" uniqKey="Couch F" first="F J" last="Couch">F J Couch</name><affiliation><nlm:aff id="aff38"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff39"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Fredericksen, Z" sort="Fredericksen, Z" uniqKey="Fredericksen Z" first="Z" last="Fredericksen">Z. Fredericksen</name><affiliation><nlm:aff id="aff39"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lindor, N M" sort="Lindor, N M" uniqKey="Lindor N" first="N M" last="Lindor">N M Lindor</name><affiliation><nlm:aff id="aff40"><institution>Department of Medical Genetics, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Godwin, A" sort="Godwin, A" uniqKey="Godwin A" first="A" last="Godwin">A. Godwin</name><affiliation><nlm:aff id="aff41"><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, KS,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Isaacs, C" sort="Isaacs, C" uniqKey="Isaacs C" first="C" last="Isaacs">C. Isaacs</name><affiliation><nlm:aff id="aff42"><institution>MD Georgetown University</institution>, Washington, DC,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Caligo, M A" sort="Caligo, M A" uniqKey="Caligo M" first="M A" last="Caligo">M A Caligo</name><affiliation><nlm:aff id="aff43"><institution>Division of Pathology, Department of Oncology, University and University Hospital of Pisa</institution>,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Loman, N" sort="Loman, N" uniqKey="Loman N" first="N" last="Loman">N. Loman</name><affiliation><nlm:aff id="aff44"><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Jernstrom, H" sort="Jernstrom, H" uniqKey="Jernstrom H" first="H" last="Jernström">H. Jernström</name><affiliation><nlm:aff id="aff45"><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Barbany Bustinza, G" sort="Barbany Bustinza, G" uniqKey="Barbany Bustinza G" first="G" last="Barbany-Bustinza">G. Barbany-Bustinza</name><affiliation><nlm:aff id="aff46"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, S-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Liljegren, A" sort="Liljegren, A" uniqKey="Liljegren A" first="A" last="Liljegren">A. Liljegren</name><affiliation><nlm:aff id="aff47"><institution>Department of Oncology, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, H" sort="Ehrencrona, H" uniqKey="Ehrencrona H" first="H" last="Ehrencrona">H. Ehrencrona</name><affiliation><nlm:aff id="aff48"><institution>Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University</institution>, S-751 85 Uppsala,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, M" sort="Stenmark Askmalm, M" uniqKey="Stenmark Askmalm M" first="M" last="Stenmark-Askmalm">M. Stenmark-Askmalm</name><affiliation><nlm:aff id="aff49"><institution>Department of Oncology, University Hospital Linköping</institution>,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Feliubadal, L" sort="Feliubadal, L" uniqKey="Feliubadal L" first="L" last="Feliubadal">L. Feliubadal</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Manoukian, S" sort="Manoukian, S" uniqKey="Manoukian S" first="S" last="Manoukian">S. Manoukian</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Peissel, B" sort="Peissel, B" uniqKey="Peissel B" first="B" last="Peissel">B. Peissel</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Zaffaroni, D" sort="Zaffaroni, D" uniqKey="Zaffaroni D" first="D" last="Zaffaroni">D. Zaffaroni</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Bonanni, B" sort="Bonanni, B" uniqKey="Bonanni B" first="B" last="Bonanni">B. Bonanni</name><affiliation><nlm:aff id="aff51"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Fortuzzi, S" sort="Fortuzzi, S" uniqKey="Fortuzzi S" first="S" last="Fortuzzi">S. Fortuzzi</name><affiliation><nlm:aff id="aff52"><institution>Cogentech, Consortium for Genomics Technology</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Johannsson, O T" sort="Johannsson, O T" uniqKey="Johannsson O" first="O T" last="Johannsson">O T Johannsson</name><affiliation><nlm:aff id="aff53"><institution>Faculty of Medicine, University of Iceland, Department of Oncology, Landspitali-University Hospital</institution>, Reykjavik,<country>Iceland</country></nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, G" sort="Chenevix Trench, G" uniqKey="Chenevix Trench G" first="G" last="Chenevix-Trench">G. Chenevix-Trench</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Chen, X C" sort="Chen, X C" uniqKey="Chen X" first="X-C" last="Chen">X-C Chen</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Beesley, J" sort="Beesley, J" uniqKey="Beesley J" first="J" last="Beesley">J. Beesley</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Spurdle, A B" sort="Spurdle, A B" uniqKey="Spurdle A" first="A B" last="Spurdle">A B Spurdle</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, O M" sort="Sinilnikova, O M" uniqKey="Sinilnikova O" first="O M" last="Sinilnikova">O M Sinilnikova</name><affiliation><nlm:aff id="aff56"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>, Lyon,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff57"><institution>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Healey, S" sort="Healey, S" uniqKey="Healey S" first="S" last="Healey">S. Healey</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Mcguffog, L" sort="Mcguffog, L" uniqKey="Mcguffog L" first="L" last="Mcguffog">L. Mcguffog</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Antoniou, A C" sort="Antoniou, A C" uniqKey="Antoniou A" first="A C" last="Antoniou">A C Antoniou</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brunet, J" sort="Brunet, J" uniqKey="Brunet J" first="J" last="Brunet">J. Brunet</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Radice, P" sort="Radice, P" uniqKey="Radice P" first="P" last="Radice">P. Radice</name><affiliation><nlm:aff id="aff5"><institution>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff6"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J" last="Benítez">J. Benítez</name><affiliation><nlm:aff id="aff1"><institution>Human Genetics Group, Spanish National Cancer Centre, C/Melchor Fernández Almagro 3</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Spanish Network on Rare Diseases (CIBERER)</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21427728</idno><idno type="pmc">3078599</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078599</idno><idno type="RBID">PMC:3078599</idno><idno type="doi">10.1038/bjc.2011.91</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000090</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000090</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evaluation of the <italic>XRCC1</italic> gene as a phenotypic modifier in <italic>BRCA1/2</italic> mutation carriers. Results from the consortium of investigators of modifiers of <italic>BRCA1/BRCA2</italic></title><author><name sortKey="Osorio, A" sort="Osorio, A" uniqKey="Osorio A" first="A" last="Osorio">A. Osorio</name><affiliation><nlm:aff id="aff1"><institution>Human Genetics Group, Spanish National Cancer Centre, C/Melchor Fernández Almagro 3</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Spanish Network on Rare Diseases (CIBERER)</institution></nlm:aff></affiliation></author><author><name sortKey="Milne, R L" sort="Milne, R L" uniqKey="Milne R" first="R L" last="Milne">R L Milne</name><affiliation><nlm:aff id="aff3"><institution>Genetic and Molecular Epidemiology Group, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Alonso, R" sort="Alonso, R" uniqKey="Alonso R" first="R" last="Alonso">R. Alonso</name><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Pita, G" sort="Pita, G" uniqKey="Pita G" first="G" last="Pita">G. Pita</name><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Peterlongo, P" sort="Peterlongo, P" uniqKey="Peterlongo P" first="P" last="Peterlongo">P. Peterlongo</name><affiliation><nlm:aff id="aff5"><institution>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff6"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Teule, A" sort="Teule, A" uniqKey="Teule A" first="A" last="Teulé">A. Teulé</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Nathanson, K L" sort="Nathanson, K L" uniqKey="Nathanson K" first="K L" last="Nathanson">K L Nathanson</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Domchek, S M" sort="Domchek, S M" uniqKey="Domchek S" first="S M" last="Domchek">S M Domchek</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Rebbeck, T" sort="Rebbeck, T" uniqKey="Rebbeck T" first="T" last="Rebbeck">T. Rebbeck</name><affiliation><nlm:aff id="aff8"><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lasa, A" sort="Lasa, A" uniqKey="Lasa A" first="A" last="Lasa">A. Lasa</name><affiliation><nlm:aff id="aff9"><institution>Genetics Service, Hospital de la Santa Creu i Sant Pau</institution>, Barcelona,<country>España</country></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, I" sort="Konstantopoulou, I" uniqKey="Konstantopoulou I" first="I" last="Konstantopoulou">I. Konstantopoulou</name><affiliation><nlm:aff id="aff10"><institution>Molecular Diagnostics Lab IRRP, NCSR ‘Demokritos'</institution>, 15310 Agia Paraskevi,<country>Greece</country></nlm:aff></affiliation></author><author><name sortKey="Hogervorst, F B" sort="Hogervorst, F B" uniqKey="Hogervorst F" first="F B" last="Hogervorst">F B Hogervorst</name><affiliation><nlm:aff id="aff11"><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Verhoef, S" sort="Verhoef, S" uniqKey="Verhoef S" first="S" last="Verhoef">S. Verhoef</name><affiliation><nlm:aff id="aff12"><institution>Department of Clinical Genetics, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Dooren, M F" sort="Van Dooren, M F" uniqKey="Van Dooren M" first="M F" last="Van Dooren">M F Van Dooren</name><affiliation><nlm:aff id="aff13"><institution>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Jager, A" sort="Jager, A" uniqKey="Jager A" first="A" last="Jager">A. Jager</name><affiliation><nlm:aff id="aff14"><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Ausems, M G E M" sort="Ausems, M G E M" uniqKey="Ausems M" first="M G E M" last="Ausems">M G E M. Ausems</name><affiliation><nlm:aff id="aff15"><institution>Department of Medical Genetics, University Medical Center Utrecht</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Aalfs, C M" sort="Aalfs, C M" uniqKey="Aalfs C" first="C M" last="Aalfs">C M Aalfs</name><affiliation><nlm:aff id="aff16"><institution>Department of Clinical Genetics, Academic Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Asperen, C J" sort="Van Asperen, C J" uniqKey="Van Asperen C" first="C J" last="Van Asperen">C J Van Asperen</name><affiliation><nlm:aff id="aff17"><institution>Department Of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Vreeswijk, M" sort="Vreeswijk, M" uniqKey="Vreeswijk M" first="M" last="Vreeswijk">M. Vreeswijk</name><affiliation><nlm:aff id="aff18"><institution>Department of Human Genetics and Department of Toxicogenetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Waisfisz, Q" sort="Waisfisz, Q" uniqKey="Waisfisz Q" first="Q" last="Waisfisz">Q. Waisfisz</name><affiliation><nlm:aff id="aff19"><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Roozendaal, C E" sort="Van Roozendaal, C E" uniqKey="Van Roozendaal C" first="C E" last="Van Roozendaal">C E Van Roozendaal</name><affiliation><nlm:aff id="aff20"><institution>Department of Clinical Genetics, University Medical Center</institution>, Maastricht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, M J" sort="Ligtenberg, M J" uniqKey="Ligtenberg M" first="M J" last="Ligtenberg">M J Ligtenberg</name><affiliation><nlm:aff id="aff21"><institution>Department of Human Genetics and Pathology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Easton, D F" sort="Easton, D F" uniqKey="Easton D" first="D F" last="Easton">D F Easton</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Peock, S" sort="Peock, S" uniqKey="Peock S" first="S" last="Peock">S. Peock</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Cook, M" sort="Cook, M" uniqKey="Cook M" first="M" last="Cook">M. Cook</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Oliver, C T" sort="Oliver, C T" uniqKey="Oliver C" first="C T" last="Oliver">C T Oliver</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Frost, D" sort="Frost, D" uniqKey="Frost D" first="D" last="Frost">D. Frost</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Curzon, B" sort="Curzon, B" uniqKey="Curzon B" first="B" last="Curzon">B. Curzon</name><affiliation><nlm:aff id="aff24"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Evans, D G" sort="Evans, D G" uniqKey="Evans D" first="D G" last="Evans">D G Evans</name><affiliation><nlm:aff id="aff25"><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust</institution>, Manchester,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lalloo, F" sort="Lalloo, F" uniqKey="Lalloo F" first="F" last="Lalloo">F. Lalloo</name><affiliation><nlm:aff id="aff25"><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust</institution>, Manchester,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eeles, R" sort="Eeles, R" uniqKey="Eeles R" first="R" last="Eeles">R. Eeles</name><affiliation><nlm:aff id="aff26"><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Izatt, L" sort="Izatt, L" uniqKey="Izatt L" first="L" last="Izatt">L. Izatt</name><affiliation><nlm:aff id="aff27"><institution>Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Davidson, R" sort="Davidson, R" uniqKey="Davidson R" first="R" last="Davidson">R. Davidson</name><affiliation><nlm:aff id="aff28"><institution>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals</institution>, Glasgow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Adlard, J" sort="Adlard, J" uniqKey="Adlard J" first="J" last="Adlard">J. Adlard</name><affiliation><nlm:aff id="aff29"><institution>Yorkshire Regional Genetics Service</institution>, Leeds,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eccles, D" sort="Eccles, D" uniqKey="Eccles D" first="D" last="Eccles">D. Eccles</name><affiliation><nlm:aff id="aff30"><institution>Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ong, K R" sort="Ong, K R" uniqKey="Ong K" first="K-R" last="Ong">K-R Ong</name><affiliation><nlm:aff id="aff31"><institution>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Douglas, F" sort="Douglas, F" uniqKey="Douglas F" first="F" last="Douglas">F. Douglas</name><affiliation><nlm:aff id="aff32"><institution>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Downing, S" sort="Downing, S" uniqKey="Downing S" first="S" last="Downing">S. Downing</name><affiliation><nlm:aff id="aff33"><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital</institution>, Cambridge,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brewer, C" sort="Brewer, C" uniqKey="Brewer C" first="C" last="Brewer">C. Brewer</name><affiliation><nlm:aff id="aff34"><institution>Department of Clinical Genetics, Royal Devon and Exeter Hospital</institution>, Exeter,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Walker, L" sort="Walker, L" uniqKey="Walker L" first="L" last="Walker">L. Walker</name><affiliation><nlm:aff id="aff35"><institution>Oxford Regional Genetics Service, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, H" sort="Nevanlinna, H" uniqKey="Nevanlinna H" first="H" last="Nevanlinna">H. Nevanlinna</name><affiliation><nlm:aff id="aff36"><institution>Department of Obstetrics and Gynecology, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, K" sort="Aittom Ki, K" uniqKey="Aittom Ki K" first="K" last="Aittom Ki">K. Aittom Ki</name><affiliation><nlm:aff id="aff37"><institution>Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Couch, F J" sort="Couch, F J" uniqKey="Couch F" first="F J" last="Couch">F J Couch</name><affiliation><nlm:aff id="aff38"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff39"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Fredericksen, Z" sort="Fredericksen, Z" uniqKey="Fredericksen Z" first="Z" last="Fredericksen">Z. Fredericksen</name><affiliation><nlm:aff id="aff39"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lindor, N M" sort="Lindor, N M" uniqKey="Lindor N" first="N M" last="Lindor">N M Lindor</name><affiliation><nlm:aff id="aff40"><institution>Department of Medical Genetics, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Godwin, A" sort="Godwin, A" uniqKey="Godwin A" first="A" last="Godwin">A. Godwin</name><affiliation><nlm:aff id="aff41"><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, KS,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Isaacs, C" sort="Isaacs, C" uniqKey="Isaacs C" first="C" last="Isaacs">C. Isaacs</name><affiliation><nlm:aff id="aff42"><institution>MD Georgetown University</institution>, Washington, DC,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Caligo, M A" sort="Caligo, M A" uniqKey="Caligo M" first="M A" last="Caligo">M A Caligo</name><affiliation><nlm:aff id="aff43"><institution>Division of Pathology, Department of Oncology, University and University Hospital of Pisa</institution>,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Loman, N" sort="Loman, N" uniqKey="Loman N" first="N" last="Loman">N. Loman</name><affiliation><nlm:aff id="aff44"><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Jernstrom, H" sort="Jernstrom, H" uniqKey="Jernstrom H" first="H" last="Jernström">H. Jernström</name><affiliation><nlm:aff id="aff45"><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Barbany Bustinza, G" sort="Barbany Bustinza, G" uniqKey="Barbany Bustinza G" first="G" last="Barbany-Bustinza">G. Barbany-Bustinza</name><affiliation><nlm:aff id="aff46"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, S-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Liljegren, A" sort="Liljegren, A" uniqKey="Liljegren A" first="A" last="Liljegren">A. Liljegren</name><affiliation><nlm:aff id="aff47"><institution>Department of Oncology, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, H" sort="Ehrencrona, H" uniqKey="Ehrencrona H" first="H" last="Ehrencrona">H. Ehrencrona</name><affiliation><nlm:aff id="aff48"><institution>Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University</institution>, S-751 85 Uppsala,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, M" sort="Stenmark Askmalm, M" uniqKey="Stenmark Askmalm M" first="M" last="Stenmark-Askmalm">M. Stenmark-Askmalm</name><affiliation><nlm:aff id="aff49"><institution>Department of Oncology, University Hospital Linköping</institution>,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Feliubadal, L" sort="Feliubadal, L" uniqKey="Feliubadal L" first="L" last="Feliubadal">L. Feliubadal</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Manoukian, S" sort="Manoukian, S" uniqKey="Manoukian S" first="S" last="Manoukian">S. Manoukian</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Peissel, B" sort="Peissel, B" uniqKey="Peissel B" first="B" last="Peissel">B. Peissel</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Zaffaroni, D" sort="Zaffaroni, D" uniqKey="Zaffaroni D" first="D" last="Zaffaroni">D. Zaffaroni</name><affiliation><nlm:aff id="aff50"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Bonanni, B" sort="Bonanni, B" uniqKey="Bonanni B" first="B" last="Bonanni">B. Bonanni</name><affiliation><nlm:aff id="aff51"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Fortuzzi, S" sort="Fortuzzi, S" uniqKey="Fortuzzi S" first="S" last="Fortuzzi">S. Fortuzzi</name><affiliation><nlm:aff id="aff52"><institution>Cogentech, Consortium for Genomics Technology</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Johannsson, O T" sort="Johannsson, O T" uniqKey="Johannsson O" first="O T" last="Johannsson">O T Johannsson</name><affiliation><nlm:aff id="aff53"><institution>Faculty of Medicine, University of Iceland, Department of Oncology, Landspitali-University Hospital</institution>, Reykjavik,<country>Iceland</country></nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, G" sort="Chenevix Trench, G" uniqKey="Chenevix Trench G" first="G" last="Chenevix-Trench">G. Chenevix-Trench</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Chen, X C" sort="Chen, X C" uniqKey="Chen X" first="X-C" last="Chen">X-C Chen</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Beesley, J" sort="Beesley, J" uniqKey="Beesley J" first="J" last="Beesley">J. Beesley</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Spurdle, A B" sort="Spurdle, A B" uniqKey="Spurdle A" first="A B" last="Spurdle">A B Spurdle</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, O M" sort="Sinilnikova, O M" uniqKey="Sinilnikova O" first="O M" last="Sinilnikova">O M Sinilnikova</name><affiliation><nlm:aff id="aff56"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>, Lyon,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff57"><institution>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Healey, S" sort="Healey, S" uniqKey="Healey S" first="S" last="Healey">S. Healey</name><affiliation><nlm:aff id="aff54"><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Mcguffog, L" sort="Mcguffog, L" uniqKey="Mcguffog L" first="L" last="Mcguffog">L. Mcguffog</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Antoniou, A C" sort="Antoniou, A C" uniqKey="Antoniou A" first="A C" last="Antoniou">A C Antoniou</name><affiliation><nlm:aff id="aff23"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brunet, J" sort="Brunet, J" uniqKey="Brunet J" first="J" last="Brunet">J. Brunet</name><affiliation><nlm:aff id="aff7"><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Radice, P" sort="Radice, P" uniqKey="Radice P" first="P" last="Radice">P. Radice</name><affiliation><nlm:aff id="aff5"><institution>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori</institution>, Milan,<country>Italy</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff6"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J" last="Benítez">J. Benítez</name><affiliation><nlm:aff id="aff1"><institution>Human Genetics Group, Spanish National Cancer Centre, C/Melchor Fernández Almagro 3</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Spanish Network on Rare Diseases (CIBERER)</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author></analytic><series><title level="j">British Journal of Cancer</title><idno type="ISSN">0007-0920</idno><idno type="eISSN">1532-1827</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background:</title><p>Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2.</italic> The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, <italic>PARP1</italic>, and both <italic>BRCA1</italic> and <italic>BRCA2</italic>. In this study, we have evaluated the <italic>XRCC1</italic> gene that participates in the BER pathway, as phenotypic modifier of <italic>BRCA1</italic> and <italic>BRCA2</italic>.</p></sec><sec><title>Methods:</title><p>Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 <italic>BRCA1</italic> and 576 <italic>BRCA2</italic> mutation carriers.</p></sec><sec><title>Results:</title><p>An association was observed between p.Arg280His-rs25489 and breast cancer risk for <italic>BRCA2</italic> mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3–34, <italic>P</italic><0.001). This association was further tested in a second series of 4480 <italic>BRCA1</italic> and 3016 <italic>BRCA2</italic> mutation carriers from the Consortium of Investigators of Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic>.</p></sec><sec><title>Conclusions and inte</title><p>No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Antoniou, A" uniqKey="Antoniou A">A Antoniou</name></author><author><name sortKey="Pharoah, Pd" uniqKey="Pharoah P">PD Pharoah</name></author><author><name sortKey="Narod, S" uniqKey="Narod S">S Narod</name></author><author><name sortKey="Risch, Ha" uniqKey="Risch H">HA Risch</name></author><author><name sortKey="Eyfjord, Je" uniqKey="Eyfjord J">JE Eyfjord</name></author><author><name 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Madrid,<country>Spain</country></aff><aff id="aff5"><label>5</label><institution>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori</institution>, Milan,<country>Italy</country></aff><aff id="aff6"><label>6</label><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, Milan,<country>Italy</country></aff><aff id="aff7"><label>7</label><institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>,<country>Spain</country></aff><aff id="aff8"><label>8</label><institution>Abramson Cancer Center, University of Pennsylvania</institution>, Philadelphia, PA,<country>USA</country></aff><aff id="aff9"><label>9</label><institution>Genetics Service, Hospital de la Santa Creu i Sant Pau</institution>, Barcelona,<country>España</country></aff><aff id="aff10"><label>10</label><institution>Molecular Diagnostics Lab IRRP, NCSR ‘Demokritos'</institution>, 15310 Agia Paraskevi,<country>Greece</country></aff><aff id="aff11"><label>11</label><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff12"><label>12</label><institution>Department of Clinical Genetics, Netherlands Cancer Institute</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff13"><label>13</label><institution>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></aff><aff id="aff14"><label>14</label><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam,<country>The Netherlands</country></aff><aff id="aff15"><label>15</label><institution>Department of Medical Genetics, University Medical Center Utrecht</institution>, Utrecht,<country>The Netherlands</country></aff><aff id="aff16"><label>16</label><institution>Department of Clinical Genetics, Academic Medical Center</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff17"><label>17</label><institution>Department Of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></aff><aff id="aff18"><label>18</label><institution>Department of Human Genetics and Department of Toxicogenetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></aff><aff id="aff19"><label>19</label><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff20"><label>20</label><institution>Department of Clinical Genetics, University Medical Center</institution>, Maastricht,<country>The Netherlands</country></aff><aff id="aff21"><label>21</label><institution>Department of Human Genetics and Pathology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></aff><aff id="aff22"><label>22</label><institution>The Hereditary Breast and Ovarian Cancer Research Group Netherlands</institution></aff><aff id="aff23"><label>23</label><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>,<country>UK</country></aff><aff id="aff24"><label>24</label><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>,<country>UK</country></aff><aff id="aff25"><label>25</label><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust</institution>, Manchester,<country>UK</country></aff><aff id="aff26"><label>26</label><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>,<country>UK</country></aff><aff id="aff27"><label>27</label><institution>Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust</institution>, London,<country>UK</country></aff><aff id="aff28"><label>28</label><institution>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals</institution>, Glasgow,<country>UK</country></aff><aff id="aff29"><label>29</label><institution>Yorkshire Regional Genetics Service</institution>, Leeds,<country>UK</country></aff><aff id="aff30"><label>30</label><institution>Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></aff><aff id="aff31"><label>31</label><institution>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston</institution>, Birmingham,<country>UK</country></aff><aff id="aff32"><label>32</label><institution>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust</institution>, Newcastle upon Tyne,<country>UK</country></aff><aff id="aff33"><label>33</label><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital</institution>, Cambridge,<country>UK</country></aff><aff id="aff34"><label>34</label><institution>Department of Clinical Genetics, Royal Devon and Exeter Hospital</institution>, Exeter,<country>UK</country></aff><aff id="aff35"><label>35</label><institution>Oxford Regional Genetics Service, Churchill Hospital</institution>, Oxford,<country>UK</country></aff><aff id="aff36"><label>36</label><institution>Department of Obstetrics and Gynecology, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></aff><aff id="aff37"><label>37</label><institution>Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></aff><aff id="aff38"><label>38</label><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></aff><aff id="aff39"><label>39</label><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></aff><aff id="aff40"><label>40</label><institution>Department of Medical Genetics, Mayo Clinic</institution>, Rochester, MI,<country>USA</country></aff><aff id="aff41"><label>41</label><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, KS,<country>USA</country></aff><aff id="aff42"><label>42</label><institution>MD Georgetown University</institution>, Washington, DC,<country>USA</country></aff><aff id="aff43"><label>43</label><institution>Division of Pathology, Department of Oncology, University and University Hospital of Pisa</institution>,<country>Italy</country></aff><aff id="aff44"><label>44</label><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></aff><aff id="aff45"><label>45</label><institution>Department of Oncology, Lund University Hospital</institution>, Lund,<country>Sweden</country></aff><aff id="aff46"><label>46</label><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, S-17176 Stockholm,<country>Sweden</country></aff><aff id="aff47"><label>47</label><institution>Department of Oncology, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></aff><aff id="aff48"><label>48</label><institution>Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University</institution>, S-751 85 Uppsala,<country>Sweden</country></aff><aff id="aff49"><label>49</label><institution>Department of Oncology, University Hospital Linköping</institution>,<country>Sweden</country></aff><aff id="aff50"><label>50</label><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori</institution>, Milan,<country>Italy</country></aff><aff id="aff51"><label>51</label><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, Milan,<country>Italy</country></aff><aff id="aff52"><label>52</label><institution>Cogentech, Consortium for Genomics Technology</institution>, Milan,<country>Italy</country></aff><aff id="aff53"><label>53</label><institution>Faculty of Medicine, University of Iceland, Department of Oncology, Landspitali-University Hospital</institution>, Reykjavik,<country>Iceland</country></aff><aff id="aff54"><label>54</label><institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>, Brisbane,<country>Australia</country></aff><aff id="aff55"><label>55</label><institution>Peter MacCallum Cancer Centre</institution>, Melbourne,<country>Australia</country></aff><aff id="aff56"><label>56</label><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>, Lyon,<country>France</country></aff><aff id="aff57"><label>57</label><institution>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon</institution>, Lyon,<country>France</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label>E-mail: <email>aosorio@cnio.es</email></corresp><fn fn-type="present-address" id="note1"><label>58</label><p>See Acknowledgements</p></fn></author-notes><pub-date pub-type="ppub"><day>12</day><month>04</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>22</day><month>03</month><year>2011</year></pub-date><volume>104</volume><issue>8</issue><fpage>1356</fpage><lpage>1361</lpage><history><date date-type="received"><day>22</day><month>11</month><year>2010</year></date><date date-type="rev-recd"><day>04</day><month>02</month><year>2011</year></date><date date-type="accepted"><day>21</day><month>02</month><year>2011</year></date></history><permissions><copyright-statement>Copyright © 2011 Cancer Research UK</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>Cancer Research UK</copyright-holder></permissions><abstract><sec><title>Background:</title><p>Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2.</italic> The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, <italic>PARP1</italic>, and both <italic>BRCA1</italic> and <italic>BRCA2</italic>. In this study, we have evaluated the <italic>XRCC1</italic> gene that participates in the BER pathway, as phenotypic modifier of <italic>BRCA1</italic> and <italic>BRCA2</italic>.</p></sec><sec><title>Methods:</title><p>Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 <italic>BRCA1</italic> and 576 <italic>BRCA2</italic> mutation carriers.</p></sec><sec><title>Results:</title><p>An association was observed between p.Arg280His-rs25489 and breast cancer risk for <italic>BRCA2</italic> mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3–34, <italic>P</italic><0.001). This association was further tested in a second series of 4480 <italic>BRCA1</italic> and 3016 <italic>BRCA2</italic> mutation carriers from the Consortium of Investigators of Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic>.</p></sec><sec><title>Conclusions and inte</title><p>No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers.</p></sec></abstract><kwd-group><kwd><italic>BRCA1</italic></kwd><kwd><italic>BRCA2</italic></kwd><kwd><italic>XRCC1</italic></kwd><kwd>breast cancer</kwd></kwd-group></article-meta></front><body><p>Germ-line mutations in the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes confer a high lifetime risk of developing breast or ovarian cancer. Estimates of the cumulative risk of breast cancer to age 70 vary from 40 to 85%, depending on the study (<xref ref-type="bibr" rid="bib10">Easton <italic>et al</italic>, 1995</xref>; <xref ref-type="bibr" rid="bib14">Ford <italic>et al</italic>, 1998</xref>; <xref ref-type="bibr" rid="bib1">Antoniou <italic>et al</italic>, 2003</xref>; <xref ref-type="bibr" rid="bib7">Chen <italic>et al</italic>, 2006</xref>; <xref ref-type="bibr" rid="bib18">Milne <italic>et al</italic>, 2008</xref>). Environmental and other genetic factors (risk modifiers) are likely to explain these differences, at least in part. The few reliable genetic associations that have been reported to date, have all come from the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA) initiative, which was set up to provide large samples of mutation carriers to reliably assess even modest associations with single-nucleotide polymorphisms (<xref ref-type="bibr" rid="bib8">Chenevix-Trench <italic>et al</italic>, 2007</xref>). The CIMBA has assessed risk in <italic>BRCA1/2</italic> carriers for various SNPs in genes that had been previously found to be associated with increased breast cancer risk in the general population, mostly via genome-wide association studies (<xref ref-type="bibr" rid="bib5">Antoniou <italic>et al</italic>, 2008</xref>, <xref ref-type="bibr" rid="bib3">2009</xref>). However, the first evidence of a modifier came from a candidate gene approach studying the <italic>RAD51</italic> gene, which interacts directly with <italic>BRCA1</italic> and <italic>BRCA2</italic>. All three genes participate in the DNA double-strand break repair by the homologous recombination pathway. Results from the CIMBA study suggested an increased risk of breast cancer for <italic>BRCA2</italic> mutation carriers with two copies of the ‘C' allele at the 135G → C SNP (rs 1801320) in the 5′ untranslated region of <italic>RAD51</italic> (<xref ref-type="bibr" rid="bib4">Antoniou <italic>et al</italic>, 2007</xref>). This result suggests that other genes involved in DNA repair could as also function as cancer risk modifiers for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</p><p>It has been proven that a deficiency in the base excision repair (BER) pathway can give rise to stalling of the replication fork and accumulation of double-strand DNA breaks which, in the presence of a defective <italic>BRCA1</italic> or <italic>BRCA2</italic> background, could persist and lead to cell cycle arrest or cell death (<xref ref-type="bibr" rid="bib11">Farmer <italic>et al</italic>, 2005</xref>). This synthetic lethality interaction led us to hypothesise that SNPs in genes participating in this pathway could be potential modifiers of cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. The <italic>XRCC1</italic> gene is involved in the BER pathway and its association with different types of cancer have been extensively investigated, with no conclusive results (<xref ref-type="bibr" rid="bib16">Kiyohara <italic>et al</italic>, 2006</xref>; <xref ref-type="bibr" rid="bib12">Figueroa <italic>et al</italic>, 2007</xref>; <xref ref-type="bibr" rid="bib19">Naccarati <italic>et al</italic>, 2007</xref>; <xref ref-type="bibr" rid="bib9">Doecke <italic>et al</italic>, 2008</xref>; <xref ref-type="bibr" rid="bib13">Fontana <italic>et al</italic>, 2008</xref>; <xref ref-type="bibr" rid="bib17">McWilliams <italic>et al</italic>, 2008</xref>; <xref ref-type="bibr" rid="bib6">Chang <italic>et al</italic>, 2009</xref>; <xref ref-type="bibr" rid="bib24">Zhai <italic>et al</italic>, 2009</xref>). Four SNPs in <italic>XRCC1</italic>, three of them leading to amino acid changes (p.Arg194Trp, p.Arg280His and p.Gln399Arg) and one in the promoter region (c.-77C>T) are within the most common in terms of minor allele frequency, and a potential effect on the function of the XRCC1 protein has been suggested for them, although no clear association with breast cancer risk has been reported (<xref ref-type="bibr" rid="bib23">Takanami <italic>et al</italic>, 2005</xref>; <xref ref-type="bibr" rid="bib15">Hao <italic>et al</italic>, 2006</xref>; <xref ref-type="bibr" rid="bib21">Sterpone <italic>et al</italic>, 2009</xref>; <xref ref-type="bibr" rid="bib22">Sterpone <italic>et al</italic>, 2010</xref>). Nevertheless, the specific interaction mentioned above suggests that common variation in <italic>XRCC1</italic> may have an effect on breast cancer risk for <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers. In this study, we aimed to assess this hypothesis for the three most studied SNPs in <italic>XRCC1</italic>, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) using a two-stage approach.</p><sec sec-type="materials|methods"><title>Material and methods</title><sec><title>Patients</title><p>Eligible subjects were female carriers of deleterious mutations in <italic>BRCA1</italic> or <italic>BRCA2</italic> aged ≥18 years from which complete information about year of birth, mutation description, age at last follow-up, ages at breast and or ovarian cancer diagnosis and age or date of prophylactic mastectomy was available (<xref ref-type="bibr" rid="bib5">Antoniou <italic>et al</italic>, 2008</xref>). A total of 14 collaborating CIMBA studies from 10 countries, contributed genotypes for the study. Details of each study along with the numbers of samples included from each are provided in <xref rid="tbl1" ref-type="table">Table 1</xref>. The CNIO, ICO and MBCSG studies participated in the first stage in which the three SNPs, rs3213245, rs25489 and rs25487 were analysed and a potential association between rs25489 and breast cancer risk was identified. The remaining CIMBA samples were included in the stage II analysis and contributed genotypes for rs25489 only.</p><p>Subjects who reported having ethnicity other than white European were excluded from the analyses. This gave a total of 7496 female mutation carriers (4480 with mutations in <italic>BRCA1</italic> and 3016 with mutations in <italic>BRCA2</italic>), 3891 of whom had been diagnosed with breast cancer (2293 and 1598 with mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic>, respectively). All carriers participated in clinical and/or research studies at the host institution under IRB-approved protocols.</p></sec><sec><title>Genotyping</title><p>The genotyping platform used by each study is detailed in <xref rid="tbl1" ref-type="table">Table 1</xref>. For 11 studies, matrix assisted laser desorption/ionisation time of flight mass spectrometry was applied to determine allele-specific primer extension products using Sequenom's MassARRAY system and iPLEX technology (Sequenom, San Diego, CA, USA). The design of oligonucleotides was carried out according to the guidelines of Sequenom and performed using MassARRAY Assay Design software (version 3.1). Three studies carried out genotyping by nuclease assay (Taqman). Taqman genotyping reagents were designed by Applied Biosystems (<ext-link ext-link-type="uri" xlink:href="http://www.appliedbiosystems.com/">http://www.appliedbiosystems.
com/</ext-link>) as Assays-by-Design. Genotyping was performed using the ABI PRISM 7900HT, 7700 or 7500 Sequence Detection Systems according to manufacturer's instructions. All studies complied with CIMBA genotyping quality control standards (<ext-link ext-link-type="uri" xlink:href="http://www.srl.cam.ac.uk/consortia/cimba/eligibility/eligibility.html">http://www.srl.cam.ac.uk/consortia/cimba/eligibility/eligibi
lity.html</ext-link>).</p></sec><sec><title>Statistical analysis</title><p>To test for departure from Hardy–Weinberg equilibrium a single individual was randomly selected from each family and Pearson's <italic>χ</italic><sup>2</sup>-test (1 d.f.) was applied to genotypes from this set of individuals. The association of the SNPs with breast cancer risk was assessed by estimating hazard ratios (HRs) and their corresponding 95% confidence intervals (CIs) using weighted multivariable Cox proportional hazards regression with robust estimates of variance (<xref ref-type="bibr" rid="bib2">Antoniou <italic>et al</italic>, 2005</xref>). For each mutation carrier, we modelled the time to diagnosis of breast cancer from birth, censoring at the first of the following events: bilateral prophylactic mastectomy, breast cancer diagnosis, ovarian cancer diagnosis, death and date last know to be alive. Subjects were considered affected if their age at censoring corresponded to their age at diagnosis of breast cancer and unaffected otherwise. Weights were assigned separately for carriers of mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic>, by age (<25, 25–29, 30–34, 35–39, 40–44, 45–49, 50–54, 55–59, 60–64, 65–69, ⩾70) and affection status, so that the weighted observed incidences in the sample agreed with established estimates for mutation carriers (<xref ref-type="bibr" rid="bib1">Antoniou <italic>et al</italic>, 2003</xref>). This approach has been shown to adjust for the bias inherent in the oversampling of affected women because of the ascertainment criteria used (<xref ref-type="bibr" rid="bib2">Antoniou <italic>et al</italic>, 2005</xref>).</p><p>We considered log-additive and co-dominant genetic models and tested for departure from HR=1 by applying a Wald test based on the log−HR estimate and its standard error. Additional independent variables included in all analyses were year of birth (<1930, 1930–1939, 1940–1949, 1950–1959, 1960–1969, ⩾1970), study centre and country. Heterogeneity in HRs by study centre was assessed by the <italic>χ</italic><sup>2</sup> equivalent of a Wald test based on the interaction terms for the per-allele effect by centre (on 13 d.f.). A number of sensitivity analyses were applied, including censoring at bilateral prophylactic oophorectomy (BPO), adjusting for BPO (as a time-varying covariate) and excluding prevalent cases, defined as those diagnosed more than 3 years before the interview.</p><p>All statistical analyses were carried out using Stata: Release 10 (StataCorp. 2007. Stata Statistical Software: Release 10.0. College Station, TX, USA: Stata Corporation LP). Robust estimates of variance were calculated using the cluster sub-command, applied to an identifier variable unique to each family.</p></sec></sec><sec><title>Results and discussion</title><p>In this study, we aimed to evaluate the role of three of the most studied SNPs in the <italic>XRCC1</italic> gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) as modifiers of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. The study was conducted in two stages, the first analysing the three SNPs in 1277 mutation carries (701 in <italic>BRCA1</italic> and 576 in <italic>BRCA2</italic>) from three CIMBA study centres (CNIO, ICO and MBCSG). No evidence of association was detected for c.-77C>T or p.Gln399Arg with breast cancer risk in neither <italic>BRCA1</italic> nor <italic>BRCA2</italic> mutation carriers (<italic>P</italic>⩾0.2). However, an association was observed between p.Arg280His and breast cancer risk for <italic>BRCA2</italic> mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (HR: 22.3, 95% CI: 14.3–34, <italic>P</italic><0.001; <xref rid="tbl2" ref-type="table">Table 2</xref>). The apparent increased risk was consistent with the fact that the 280His allele decreases DNA repair capacity (<xref ref-type="bibr" rid="bib23">Takanami <italic>et al</italic>, 2005</xref>; <xref ref-type="bibr" rid="bib20">Pachkowski <italic>et al</italic>, 2006</xref>), however the analysis was based on a very small number (<italic>N</italic>=2) of homozygous women diagnosed at a very early age and it was therefore essential that this result be investigated in a larger sample set.</p><p>We therefore extended the analysis of the p.Arg280His-rs25489 SNP to 6219 carriers from 11 additional CIMBA study centres. Results from stage II and both stages combined are summarised in <xref rid="tbl2" ref-type="table">Table 2</xref>. No evidence of an association of AA <italic>vs</italic> GG homozygotes with breast cancer risk was observed for <italic>BRCA2</italic> mutation carriers (HR: 0.73, 95% CI: 0.21–2.52, <italic>P</italic>=0.6 in stage II and HR: 1.08, 95% CI: 0.37–3.17, <italic>P</italic>=0.9 in the combined), nor for <italic>BRCA1</italic> mutation carriers or all mutation carriers combined. We observed no evidence of between-study heterogeneity for carriers of mutations in <italic>BRCA2</italic> (<italic>P</italic>=0.8). There was evidence of heterogeneity in the per-allele HR for <italic>BRCA1</italic> mutation carriers (<italic>P</italic>=0.006); exclusion of subjects from potential outlier studies did not eliminated this evidence (<italic>P</italic><0.05) and the estimated HR estimate did not change substantially. Several sensitivity analyses were carried out (see Materials and methods), but results did not change substantially and so only those from the main analysis are presented in this report.</p><p>Our results do not provide support for the hypothesis that the three most common and putatively functional SNPs in <italic>XRCC1</italic> modify breast cancer risk for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. However, given the demonstrated interaction that exists between the homologous recombination and BER DNA repair pathways, additional SNPs in <italic>XRCC1</italic> and other genes involved in BER should be assessed as risk modifiers for <italic>BRCA1/2</italic> mutation carriers in future studies.</p></sec></body><back><ack><p>Spanish National Cancer Centre (CNIO): We thank RM Alonso for her excellent technical assistance. The samples studied at CNIO were recruited by the Spanish Consortium for the Study of Genetic Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic>. This study was partially supported by Mutua Madrileña Foundations. The research leading to these results has received funding from the Ministry of Science (FIS08-1120) and European Community's Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175). The Italian study (Milan Breast Cancer Study Group, MBCSG) is funded in part by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project ‘Hereditary tumors'), Associazione Italiana per la Ricerca sul Cancro (4017), Ministero della Salute (RFPS-2006-3-340203, Extraordinary National Cancer Program 2006 ‘Alleanza contro il Cancro' and ‘Progetto Tumori Femminili'), Ministero dell'Universita' e Ricerca (RBLAO3-BETH) and by funds from Italian citizens who allocated the 5 × 1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5 × 1000'). The MBCSG acknowledges Marco Pierotti and Carla B Ripamonti of the Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy; Monica Barile and Loris Bernard of the Istituto Europeo di Oncologia, Milan, Italy. The Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab): We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contribute to kConFab. The kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. ABS is an NHMRC Senior Research Fellow, and GCT is an NHMRC Senior Principal Research Fellow. The MAYO study is supported in part by National Institute of Health Grants CA116167, CA122340, CA128978, a Specialized Program of Research Excellence grant in Breast Cancer P50 CA116201, a grant from the Breast Cancer Research Foundation, and a grant from the Komen Foundation for the Cure. The PBCS is supported by a grant of the Institute for Tumors of Tuscany. The Swedish BRCA1 and BRCA2 study collaborators (SWE-BRCA): SWE-BRCA collaborators: Per Karlsson, Margareta Nordling, Annika Bergman and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linköping University Hospital; Åke Borg, Niklas Loman, Håkan Olsson, Ulf Kristoffersson, Helena Jernström, Katja Harbst and Karin Henriksson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza and Johanna Rantala, Stockholm, Karolinska University Hospital; Beatrice Melin, Henrik Grönberg, Eva-Lena Stattin and Monica Emanuelsson, Umeå University Hospital; Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Uppsala University Hospital. The UPENN study is supported by the Breast Cancer Research Foundation and the MacDonald Family Foundation. The HEBON Collaborating Centres<italic>:</italic> Coordinating center: Netherlands Cancer Institute, Amsterdam, NL: FBL Hogervorst, S Verhoef, M Verheus, LJ van ‘t Veer, FE van Leeuwen, MA Rookus; Erasmus Medical Center, Rotterdam, NL: M Collée, AMW van den Ouweland, A Jager, MJ Hooning, MMA Tilanus-Linthorst, C Seynaeve; Leiden University Medical Center, NL, Leiden: CJ van Asperen, JT Wijnen, MP Vreeswijk, RA Tollenaar, P Devilee; Radboud University Nijmegen Medical Center, Nijmegen, NL: MJ Ligtenberg, N Hoogerbrugge; University Medical Center Utrecht, Utrecht, NL: MG Ausems, RB van der Luijt; Amsterdam Medical Center, NL: CM Aalfs, TA van Os; VU University Medical Center, Amsterdam, NL: JJP Gille, Q Waisfisz, HEJ Meijers-Heijboer; University Hospital Maastricht, Maastricht, NL: EB Gomez-Garcia, CE van Roozendaal, Marinus J Blok, B Caanen; University Medical Center Groningen University, NL: JC Oosterwijk, AH van der Hout, MJ Mourits; The Netherlands Foundation for the detection of hereditary tumours, Leiden, NL: HF Vasen. The HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088 and NKI2007-3756. Epidemiological study of BRCA1 and BRCA2 mutation carriers (EMBRACE): EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. Bridget Curzon is supported by Cancer Research UK Grant C8197/A10123. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeeles, Elizabeth Bancroft and Lucia D'Mello are also supported by Cancer Research UK Grant C5047/A8385. D Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. Douglas Easton is the PI of the study. EMBRACE Collaborating Centres are: Coordinating Centre, Cambridge: Susan Peock, Margaret Cook, Clare Oliver, Debra Frost. North of Scotland Regional Genetics Service, Aberdeen: Zosia Miedzybrodzka, Helen Gregory. Northern Ireland Regional Genetics Service, Belfast: Patrick Morrison, Lisa Jeffers. West Midlands Regional Clinical Genetics Service, Birmingham: Trevor Cole, Carole McKeown, Kai-ren Ong, Jonathan Hoffman. South West Regional Genetics Service, Bristol: Alan Donaldson. East Anglian Regional Genetics Service, Cambridge: Joan Paterson, Sarah Downing, Amy Taylor. Medical Genetics Services for Wales, Cardiff: Alexandra Murray, Mark T Rogers, Emma McCann. St James's Hospital, Dublin and National Centre for Medical Genetics, Dublin: M John Kennedy, David Barton. South East of Scotland Regional Genetics Service, Edinburgh: Mary Porteous, Sarah Drummond. Peninsula Clinical Genetics Service, Exeter: Carole Brewer, Emma Kivuva, Anne Searle, Selina Goodman, Kathryn Hill. West of Scotland Regional Genetics Service, Glasgow: Rosemarie Davidson, Victoria Murday, Nicola Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah Gibson. South East Thames Regional Genetics Service, Guys Hospital London: Louise Izatt, Chris Jacobs, Caroline Langman, Anna Whaite. North West Thames Regional Genetics Service, Harrow: Huw Dorkins. Leicestershire Clinical Genetics Service, Leicester: Julian Barwell. Yorkshire Regional Genetics Service, Leeds: Julian Adlard, Carol Chu, Julie Miller. Merseyside and Cheshire Clinical Genetics Service, Liverpool: Ian Ellis, Catherine Houghton. Manchester Regional Genetics Service, Manchester: D Gareth Evans, Fiona Lalloo, Jane Taylor. North East Thames Regional Genetics Service, London: Lucy Side, Alison Male, Cheryl Berlin. Nottingham Centre for Medical Genetics, Nottingham: Jacqueline Eason, Rebecca Collier. Northern Clinical Genetics Service, Newcastle: Fiona Douglas, Oonagh Claber. Oxford Regional Genetics Service, Oxford: Lisa Walker, Diane McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner. The Institute of Cancer Research and Royal Marsden NHS Foundation Trust: Ros Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth Bancroft, Lucia D'Mello, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer Wiggins, Elena Castro, Anitra Mitra, Lisa Robertson. North Trent Clinical Genetics Service, Sheffield: Jackie Cook, Oliver Quarrell, Cathryn Bardsley. South West Thames Regional Genetics Service, London: Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton: Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna McBride, Sarah Smalley. University of Kansas Medical Center: AK Godwin was funded by U01CA69631, 5U01CA113916 and the Eileen Stein Jacoby Fund. The HEBCS study has been financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society and the Sigrid Juselius Foundation. Iceland Landspitali – University Hospital study is supported by the Landspitali University Hospital Research Fund and the Icelandic association: ‘Walking for Breast Cancer Research'. 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study</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="left"></col><col align="char" char="."></col><col align="char" char="."></col><col align="left"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50"><bold>Study</bold></th><th align="left" valign="top" charoff="50"><bold>Country of residence</bold></th><th align="char" valign="top" char="." charoff="50"><bold><italic>BRCA1</italic></bold></th><th align="char" valign="top" char="." charoff="50"><bold><italic>BRCA2</italic></bold></th><th align="left" valign="top" charoff="50"><bold>Genotyping platform</bold></th></tr></thead><tbody valign="top"><tr><td align="left" valign="top" charoff="50">Spanish National Cancer Centre<xref ref-type="fn" rid="t1-fn1">a</xref><sup>,</sup><xref ref-type="fn" rid="t1-fn2">b</xref></td><td align="left" valign="top" charoff="50">Spain and Greece<xref ref-type="fn" rid="t1-fn1">a</xref></td><td align="char" valign="top" char="." charoff="50">144</td><td align="char" valign="top" char="." charoff="50">147</td><td align="left" valign="top" charoff="50">Taqman</td></tr><tr><td align="left" valign="top" charoff="50">Catalan Institute of Oncology<xref ref-type="fn" rid="t1-fn2">b</xref></td><td align="left" valign="top" charoff="50">Spain</td><td align="char" valign="top" char="." charoff="50">144</td><td align="char" valign="top" char="." charoff="50">177</td><td align="left" valign="top" charoff="50">Taqman</td></tr><tr><td align="left" valign="top" charoff="50">Hereditary Breast and Ovarian study Netherlands</td><td align="left" valign="top" charoff="50">The Netherlands</td><td align="char" valign="top" char="." charoff="50">791</td><td align="char" valign="top" char="." charoff="50">308</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Epidemiological study of BRCA1 and BRCA2 mutation carriers</td><td align="left" valign="top" charoff="50">UK and Eire</td><td align="char" valign="top" char="." charoff="50">997</td><td align="char" valign="top" char="." charoff="50">817</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Fox Chase Cancer Center</td><td align="left" valign="top" charoff="50">USA</td><td align="char" valign="top" char="." charoff="50">83</td><td align="char" valign="top" char="." charoff="50">54</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Georgetown</td><td align="left" valign="top" charoff="50">USA</td><td align="char" valign="top" char="." charoff="50">43</td><td align="char" valign="top" char="." charoff="50">35</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Helsinki Breast Cancer Study</td><td align="left" valign="top" charoff="50">Finland</td><td align="char" valign="top" char="." charoff="50">103</td><td align="char" valign="top" char="." charoff="50">104</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Iceland Landspitali – University Hospital</td><td align="left" valign="top" charoff="50">Iceland</td><td align="char" valign="top" char="." charoff="50">0</td><td align="char" valign="top" char="." charoff="50">133</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Kathleen Cuningham Consortium for Research into Familial Breast Cancer</td><td align="left" valign="top" charoff="50">Australia</td><td align="char" valign="top" char="." charoff="50">592</td><td align="char" valign="top" char="." charoff="50">478</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Mayo Clinic</td><td align="left" valign="top" charoff="50">USA</td><td align="char" valign="top" char="." charoff="50">231</td><td align="char" valign="top" char="." charoff="50">126</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Milan Breast Cancer Study Group<xref ref-type="fn" rid="t1-fn2">b</xref></td><td align="left" valign="top" charoff="50">Italy</td><td align="char" valign="top" char="." charoff="50">413</td><td align="char" valign="top" char="." charoff="50">252</td><td align="left" valign="top" charoff="50">Taqman</td></tr><tr><td align="left" valign="top" charoff="50">Pisa Breast Cancer Study</td><td align="left" valign="top" charoff="50">Italy</td><td align="char" valign="top" char="." charoff="50">86</td><td align="char" valign="top" char="." charoff="50">56</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Swedish Breast Cancer Study</td><td align="left" valign="top" charoff="50">Sweden</td><td align="char" valign="top" char="." charoff="50">536</td><td align="char" valign="top" char="." charoff="50">176</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">University of Pennsylvania</td><td align="left" valign="top" charoff="50">USA</td><td align="char" valign="top" char="." charoff="50">317</td><td align="char" valign="top" char="." charoff="50">153</td><td align="left" valign="top" charoff="50">iPlex</td></tr><tr><td align="left" valign="top" charoff="50">Total<xref ref-type="fn" rid="t1-fn3">c</xref></td><td align="left" valign="top" charoff="50"> </td><td align="char" valign="top" char="." charoff="50">4480</td><td align="char" valign="top" char="." charoff="50">3016</td><td align="left" valign="top" charoff="50"> </td></tr></tbody></table><table-wrap-foot><fn id="t1-fn1"><label>a</label><p>The Spanish National Cancer Centre series consisted of mutation carriers from the Spanish Consortium for the Study of Genetic Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic> and the National Centre for Sensor Research Demokritos, Athens and Greece.</p></fn><fn id="t1-fn2"><label>b</label><p>Series included in stage I of the study.</p></fn><fn id="t1-fn3"><label>c</label><p>Mutation carriers that failed genotyping are not included in the totals.</p></fn></table-wrap-foot></table-wrap><table-wrap id="tbl2"><label>Table 2</label><caption><title>Genotype frequencies of <italic>XRCC1</italic>-rs25489 by mutation and disease status and hazard ratio estimates from stages I and II and combined</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="left"></col><col align="char" char="("></col><col align="char" char="("></col><col align="char" char="."></col><col align="left"></col><col align="left"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50"> </th><th align="left" valign="top" charoff="50"><bold>Genotype</bold></th><th align="char" valign="top" char="(" charoff="50"><bold>Unaffected (%)</bold></th><th align="char" valign="top" char="(" charoff="50"><bold>Affected (%)</bold></th><th align="char" valign="top" char="." charoff="50"><bold>HR</bold></th><th align="left" valign="top" charoff="50"><bold>95% CI</bold></th><th align="left" valign="top" charoff="50"><bold><italic>P</italic>-value</bold></th></tr></thead><tbody valign="top"><tr><td colspan="7" align="left" valign="top" charoff="50"><italic>Stage I</italic></td></tr><tr><td align="left" valign="top" charoff="50"> BRCA1 (<italic>n</italic>=701)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">300 (89.8)</td><td align="char" valign="top" char="(" charoff="50">317 (86.4)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">33 (9.88)</td><td align="char" valign="top" char="(" charoff="50">49 (13.4)</td><td align="char" valign="top" char="." charoff="50">1.29</td><td align="left" valign="top" charoff="50">0.85–1.97</td><td align="char" valign="top" char="." charoff="50">0.2</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AA</td><td align="char" valign="top" char="(" charoff="50">1 (0.30)</td><td align="char" valign="top" char="(" charoff="50">1 (0.27)</td><td align="char" valign="top" char="." charoff="50">0.87</td><td align="left" valign="top" charoff="50">0.24–3.20</td><td align="char" valign="top" char="." charoff="50">0.8</td></tr><tr><td align="left" valign="top" charoff="50"> BRCA2 (<italic>n</italic>=576)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">226 (88.3)</td><td align="char" valign="top" char="(" charoff="50">283 (88.4)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">30 (11.7)</td><td align="char" valign="top" char="(" charoff="50">35 (10.9)</td><td align="char" valign="top" char="." charoff="50">1.20</td><td align="left" valign="top" charoff="50">0.69–2.08</td><td align="char" valign="top" char="." charoff="50">0.5</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"><bold>AA</bold></td><td align="char" valign="top" char="(" charoff="50"><bold>0</bold></td><td align="char" valign="top" char="(" charoff="50"><bold>2 (0.63)</bold></td><td align="char" valign="top" char="." charoff="50"><bold>22.3</bold></td><td align="left" valign="top" charoff="50"><bold>14.6–34.0</bold></td><td align="char" valign="top" char="." charoff="50"><bold><0.001</bold></td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td><td align="char" valign="top" char="(" charoff="50"> </td><td align="char" valign="top" char="(" charoff="50"> </td><td align="char" valign="top" char="." charoff="50"> </td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td colspan="7" align="left" valign="top" charoff="50"><italic>Stage II</italic></td></tr><tr><td align="left" valign="top" charoff="50"> BRCA1 (<italic>n</italic>=4480)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">1659 (89.5)</td><td align="char" valign="top" char="(" charoff="50">1757 (91.2)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">192 (10.4)</td><td align="char" valign="top" char="(" charoff="50">166 (8.62)</td><td align="char" valign="top" char="." charoff="50">0.83</td><td align="left" valign="top" charoff="50">0.67–1.02</td><td align="char" valign="top" char="." charoff="50">0.07</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AA</td><td align="char" valign="top" char="(" charoff="50">2 (0.11)</td><td align="char" valign="top" char="(" charoff="50">3 (0.16)</td><td align="char" valign="top" char="." charoff="50">1.26</td><td align="left" valign="top" charoff="50">0.30–5.32</td><td align="char" valign="top" char="." charoff="50">0.8</td></tr><tr><td align="left" valign="top" charoff="50"> BRCA2 (<italic>n</italic>=3016)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">1045 (89.9)</td><td align="char" valign="top" char="(" charoff="50">1143 (89.2)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">112 (9.64)</td><td align="char" valign="top" char="(" charoff="50">131 (10.3)</td><td align="char" valign="top" char="." charoff="50">0.98</td><td align="left" valign="top" charoff="50">0.77–1.25</td><td align="char" valign="top" char="." charoff="50">0.9</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AA</td><td align="char" valign="top" char="(" charoff="50">5 (0.43)</td><td align="char" valign="top" char="(" charoff="50">4 (0.31)</td><td align="char" valign="top" char="." charoff="50">0.73</td><td align="left" valign="top" charoff="50">0.21–2.52</td><td align="char" valign="top" char="." charoff="50">0.6</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td><td align="char" valign="top" char="(" charoff="50"> </td><td align="char" valign="top" char="(" charoff="50"> </td><td align="char" valign="top" char="." charoff="50"> </td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td colspan="7" align="left" valign="top" charoff="50"><italic>Combined</italic></td></tr><tr><td align="left" valign="top" charoff="50"> BRCA1 (<italic>n</italic>=5181)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">1959 (89.6)</td><td align="char" valign="top" char="(" charoff="50">2074 (90.5)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">225 (10.3)</td><td align="char" valign="top" char="(" charoff="50">215 (9.38)</td><td align="char" valign="top" char="." charoff="50">0.89</td><td align="left" valign="top" charoff="50">0.74–1.07</td><td align="char" valign="top" char="." charoff="50">0.2</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AA</td><td align="char" valign="top" char="(" charoff="50">3 (0.14)</td><td align="char" valign="top" char="(" charoff="50">4 (0.17)</td><td align="char" valign="top" char="." charoff="50">0.72</td><td align="left" valign="top" charoff="50">0.20–2.60</td><td align="char" valign="top" char="." charoff="50">0.6</td></tr><tr><td align="left" valign="top" charoff="50"> BRCA2 (<italic>n</italic>=3592)</td><td align="left" valign="top" charoff="50">GG</td><td align="char" valign="top" char="(" charoff="50">1271 (89.6)</td><td align="char" valign="top" char="(" charoff="50">1426 (89.2)</td><td align="char" valign="top" char="." charoff="50">1.00</td><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50"> </td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AG</td><td align="char" valign="top" char="(" charoff="50">142 (10)</td><td align="char" valign="top" char="(" charoff="50">166 (10.4)</td><td align="char" valign="top" char="." charoff="50">1.02</td><td align="left" valign="top" charoff="50">0.81–1.28</td><td align="char" valign="top" char="." charoff="50">0.9</td></tr><tr><td align="left" valign="top" charoff="50"> </td><td align="left" valign="top" charoff="50">AA</td><td align="char" valign="top" char="(" charoff="50">5 (0.35)</td><td align="char" valign="top" char="(" charoff="50">6 (0.38)</td><td align="char" valign="top" char="." charoff="50">1.08</td><td align="left" valign="top" charoff="50">0.37–3.14</td><td align="char" valign="top" char="." charoff="50">0.9</td></tr></tbody></table><table-wrap-foot><fn id="t2-fn1"><p>Abbreviations: CI=confidence interval; HR=hazard ratio. Statistically significant results are highlighted in bold.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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