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Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Identifieur interne : 006158 ( Main/Exploration ); précédent : 006157; suivant : 006159

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Auteurs : A. Osorio [Espagne] ; R L Milne [Espagne] ; R. Alonso [Espagne] ; G. Pita [Espagne] ; P. Peterlongo [Italie] ; A. Teulé [Espagne] ; K L Nathanson [États-Unis] ; S M Domchek [États-Unis] ; T. Rebbeck [États-Unis] ; A. Lasa [Espagne] ; I. Konstantopoulou [Grèce] ; F B Hogervorst [Pays-Bas] ; S. Verhoef [Pays-Bas] ; M F Van Dooren [Pays-Bas] ; A. Jager [Pays-Bas] ; M G E M. Ausems [Pays-Bas] ; C M Aalfs [Pays-Bas] ; C J Van Asperen [Pays-Bas] ; M. Vreeswijk [Pays-Bas] ; Q. Waisfisz [Pays-Bas] ; C E Van Roozendaal [Pays-Bas] ; M J Ligtenberg [Pays-Bas] ; D F Easton [Royaume-Uni] ; S. Peock [Royaume-Uni] ; M. Cook [Royaume-Uni] ; C T Oliver [Royaume-Uni] ; D. Frost [Royaume-Uni] ; B. Curzon [Royaume-Uni] ; D G Evans [Royaume-Uni] ; F. Lalloo [Royaume-Uni] ; R. Eeles [Royaume-Uni] ; L. Izatt [Royaume-Uni] ; R. Davidson [Royaume-Uni] ; J. Adlard [Royaume-Uni] ; D. Eccles [Royaume-Uni] ; K-R Ong [Royaume-Uni] ; F. Douglas [Royaume-Uni] ; S. Downing [Royaume-Uni] ; C. Brewer [Royaume-Uni] ; L. Walker [Royaume-Uni] ; H. Nevanlinna [Finlande] ; K. Aittom Ki [Finlande] ; F J Couch [États-Unis] ; Z. Fredericksen [États-Unis] ; N M Lindor [États-Unis] ; A. Godwin [États-Unis] ; C. Isaacs [États-Unis] ; M A Caligo [Italie] ; N. Loman [Suède] ; H. Jernström [Suède] ; G. Barbany-Bustinza [Suède] ; A. Liljegren [Suède] ; H. Ehrencrona [Suède] ; M. Stenmark-Askmalm [Suède] ; L. Feliubadal [Espagne] ; S. Manoukian [Italie] ; B. Peissel [Italie] ; D. Zaffaroni [Italie] ; B. Bonanni [Italie] ; S. Fortuzzi [Italie] ; O T Johannsson [Islande] ; G. Chenevix-Trench [Australie] ; X-C Chen [Australie] ; J. Beesley [Australie] ; A B Spurdle [Australie] ; O M Sinilnikova [France] ; S. Healey [Australie] ; L. Mcguffog [Royaume-Uni] ; A C Antoniou [Royaume-Uni] ; J. Brunet [Espagne] ; P. Radice [Italie] ; J. Benítez [Espagne]

Source :

RBID : PMC:3078599

Abstract

Background:

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 BRCA1 and BRCA2. 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, PARP1, and both BRCA1 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2.

Methods:

Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 BRCA1 and 576 BRCA2 mutation carriers.

Results:

An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3–34, P<0.001). This association was further tested in a second series of 4480 BRCA1 and 3016 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.

Conclusions and inte

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.


Url:
DOI: 10.1038/bjc.2011.91
PubMed: 21427728
PubMed Central: 3078599


Affiliations:

Links toward previous steps (curation, corpus...)

Le document en format XML

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<name sortKey="Alonso, R" sort="Alonso, R" uniqKey="Alonso R" first="R" last="Alonso">R. Alonso</name>
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<name sortKey="Pita, G" sort="Pita, G" uniqKey="Pita G" first="G" last="Pita">G. Pita</name>
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<name sortKey="Peterlongo, P" sort="Peterlongo, P" uniqKey="Peterlongo P" first="P" last="Peterlongo">P. Peterlongo</name>
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<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>
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<country xml:lang="fr">Italie</country>
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<nlm:aff id="aff6">
<institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>
, Milan,
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</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Teule, A" sort="Teule, A" uniqKey="Teule A" first="A" last="Teulé">A. Teulé</name>
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<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
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<country xml:lang="fr">Espagne</country>
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<name sortKey="Nathanson, K L" sort="Nathanson, K L" uniqKey="Nathanson K" first="K L" last="Nathanson">K L Nathanson</name>
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<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
, Philadelphia, PA,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Domchek, S M" sort="Domchek, S M" uniqKey="Domchek S" first="S M" last="Domchek">S M Domchek</name>
<affiliation wicri:level="1">
<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
, Philadelphia, PA,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Rebbeck, T" sort="Rebbeck, T" uniqKey="Rebbeck T" first="T" last="Rebbeck">T. Rebbeck</name>
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<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Lasa, A" sort="Lasa, A" uniqKey="Lasa A" first="A" last="Lasa">A. Lasa</name>
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<institution>Genetics Service, Hospital de la Santa Creu i Sant Pau</institution>
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</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Konstantopoulou, I" sort="Konstantopoulou, I" uniqKey="Konstantopoulou I" first="I" last="Konstantopoulou">I. Konstantopoulou</name>
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<nlm:aff id="aff10">
<institution>Molecular Diagnostics Lab IRRP, NCSR ‘Demokritos'</institution>
, 15310 Agia Paraskevi,
<country>Greece</country>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Hogervorst, F B" sort="Hogervorst, F B" uniqKey="Hogervorst F" first="F B" last="Hogervorst">F B Hogervorst</name>
<affiliation wicri:level="1">
<nlm:aff id="aff11">
<institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Verhoef, S" sort="Verhoef, S" uniqKey="Verhoef S" first="S" last="Verhoef">S. Verhoef</name>
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<nlm:aff id="aff12">
<institution>Department of Clinical Genetics, Netherlands Cancer Institute</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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 wicri:level="1">
<nlm:aff id="aff13">
<institution>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center</institution>
, Rotterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Jager, A" sort="Jager, A" uniqKey="Jager A" first="A" last="Jager">A. Jager</name>
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<nlm:aff id="aff14">
<institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>
, Rotterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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<nlm:aff id="aff15">
<institution>Department of Medical Genetics, University Medical Center Utrecht</institution>
, Utrecht,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Aalfs, C M" sort="Aalfs, C M" uniqKey="Aalfs C" first="C M" last="Aalfs">C M Aalfs</name>
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<nlm:aff id="aff16">
<institution>Department of Clinical Genetics, Academic Medical Center</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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<nlm:aff id="aff17">
<institution>Department Of Clinical Genetics, Leiden University Medical Center</institution>
, Leiden,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Vreeswijk, M" sort="Vreeswijk, M" uniqKey="Vreeswijk M" first="M" last="Vreeswijk">M. Vreeswijk</name>
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<institution>Department of Human Genetics and Department of Toxicogenetics, Leiden University Medical Center</institution>
, Leiden,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Waisfisz, Q" sort="Waisfisz, Q" uniqKey="Waisfisz Q" first="Q" last="Waisfisz">Q. Waisfisz</name>
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<nlm:aff id="aff19">
<institution>Department of Clinical Genetics, VU University Medical Center</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<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 wicri:level="1">
<nlm:aff id="aff20">
<institution>Department of Clinical Genetics, University Medical Center</institution>
, Maastricht,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Ligtenberg, M J" sort="Ligtenberg, M J" uniqKey="Ligtenberg M" first="M J" last="Ligtenberg">M J Ligtenberg</name>
<affiliation wicri:level="1">
<nlm:aff id="aff21">
<institution>Department of Human Genetics and Pathology, Radboud University Nijmegen Medical Centre</institution>
, Nijmegen,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Easton, D F" sort="Easton, D F" uniqKey="Easton D" first="D F" last="Easton">D F Easton</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Peock, S" sort="Peock, S" uniqKey="Peock S" first="S" last="Peock">S. Peock</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Cook, M" sort="Cook, M" uniqKey="Cook M" first="M" last="Cook">M. Cook</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Frost, D" sort="Frost, D" uniqKey="Frost D" first="D" last="Frost">D. Frost</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Curzon, B" sort="Curzon, B" uniqKey="Curzon B" first="B" last="Curzon">B. Curzon</name>
<affiliation wicri:level="1">
<nlm:aff id="aff24">
<institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Lalloo, F" sort="Lalloo, F" uniqKey="Lalloo F" first="F" last="Lalloo">F. Lalloo</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Eeles, R" sort="Eeles, R" uniqKey="Eeles R" first="R" last="Eeles">R. Eeles</name>
<affiliation wicri:level="1">
<nlm:aff id="aff26">
<institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Izatt, L" sort="Izatt, L" uniqKey="Izatt L" first="L" last="Izatt">L. Izatt</name>
<affiliation wicri:level="1">
<nlm:aff id="aff27">
<institution>Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust</institution>
, London,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Davidson, R" sort="Davidson, R" uniqKey="Davidson R" first="R" last="Davidson">R. Davidson</name>
<affiliation wicri:level="1">
<nlm:aff id="aff28">
<institution>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals</institution>
, Glasgow,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Adlard, J" sort="Adlard, J" uniqKey="Adlard J" first="J" last="Adlard">J. Adlard</name>
<affiliation wicri:level="1">
<nlm:aff id="aff29">
<institution>Yorkshire Regional Genetics Service</institution>
, Leeds,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Eccles, D" sort="Eccles, D" uniqKey="Eccles D" first="D" last="Eccles">D. Eccles</name>
<affiliation wicri:level="1">
<nlm:aff id="aff30">
<institution>Wessex Clinical Genetics Service, Princess Anne Hospital</institution>
, Southampton,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Douglas, F" sort="Douglas, F" uniqKey="Douglas F" first="F" last="Douglas">F. Douglas</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Downing, S" sort="Downing, S" uniqKey="Downing S" first="S" last="Downing">S. Downing</name>
<affiliation wicri:level="1">
<nlm:aff id="aff33">
<institution>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital</institution>
, Cambridge,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Brewer, C" sort="Brewer, C" uniqKey="Brewer C" first="C" last="Brewer">C. Brewer</name>
<affiliation wicri:level="1">
<nlm:aff id="aff34">
<institution>Department of Clinical Genetics, Royal Devon and Exeter Hospital</institution>
, Exeter,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Walker, L" sort="Walker, L" uniqKey="Walker L" first="L" last="Walker">L. Walker</name>
<affiliation wicri:level="1">
<nlm:aff id="aff35">
<institution>Oxford Regional Genetics Service, Churchill Hospital</institution>
, Oxford,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, H" sort="Nevanlinna, H" uniqKey="Nevanlinna H" first="H" last="Nevanlinna">H. Nevanlinna</name>
<affiliation wicri:level="1">
<nlm:aff id="aff36">
<institution>Department of Obstetrics and Gynecology, Helsinki University Central Hospital</institution>
, Helsinki,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff37">
<institution>Clinical Genetics, Helsinki University Central Hospital</institution>
, Helsinki,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff38">
<institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff39">
<institution>Department of Health Sciences Research, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Fredericksen, Z" sort="Fredericksen, Z" uniqKey="Fredericksen Z" first="Z" last="Fredericksen">Z. Fredericksen</name>
<affiliation wicri:level="1">
<nlm:aff id="aff39">
<institution>Department of Health Sciences Research, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff40">
<institution>Department of Medical Genetics, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Godwin, A" sort="Godwin, A" uniqKey="Godwin A" first="A" last="Godwin">A. Godwin</name>
<affiliation wicri:level="1">
<nlm:aff id="aff41">
<institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>
, KS,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Isaacs, C" sort="Isaacs, C" uniqKey="Isaacs C" first="C" last="Isaacs">C. Isaacs</name>
<affiliation wicri:level="1">
<nlm:aff id="aff42">
<institution>MD Georgetown University</institution>
, Washington, DC,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff43">
<institution>Division of Pathology, Department of Oncology, University and University Hospital of Pisa</institution>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Loman, N" sort="Loman, N" uniqKey="Loman N" first="N" last="Loman">N. Loman</name>
<affiliation wicri:level="1">
<nlm:aff id="aff44">
<institution>Department of Oncology, Lund University Hospital</institution>
, Lund,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Jernstrom, H" sort="Jernstrom, H" uniqKey="Jernstrom H" first="H" last="Jernström">H. Jernström</name>
<affiliation wicri:level="1">
<nlm:aff id="aff45">
<institution>Department of Oncology, Lund University Hospital</institution>
, Lund,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff46">
<institution>Department of Clinical Genetics, Karolinska University Hospital</institution>
, S-17176 Stockholm,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Liljegren, A" sort="Liljegren, A" uniqKey="Liljegren A" first="A" last="Liljegren">A. Liljegren</name>
<affiliation wicri:level="1">
<nlm:aff id="aff47">
<institution>Department of Oncology, Karolinska University Hospital</institution>
, Stockholm,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ehrencrona, H" sort="Ehrencrona, H" uniqKey="Ehrencrona H" first="H" last="Ehrencrona">H. Ehrencrona</name>
<affiliation wicri:level="1">
<nlm:aff id="aff48">
<institution>Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University</institution>
, S-751 85 Uppsala,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff49">
<institution>Department of Oncology, University Hospital Linköping</institution>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Feliubadal, L" sort="Feliubadal, L" uniqKey="Feliubadal L" first="L" last="Feliubadal">L. Feliubadal</name>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Manoukian, S" sort="Manoukian, S" uniqKey="Manoukian S" first="S" last="Manoukian">S. Manoukian</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Peissel, B" sort="Peissel, B" uniqKey="Peissel B" first="B" last="Peissel">B. Peissel</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Zaffaroni, D" sort="Zaffaroni, D" uniqKey="Zaffaroni D" first="D" last="Zaffaroni">D. Zaffaroni</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Bonanni, B" sort="Bonanni, B" uniqKey="Bonanni B" first="B" last="Bonanni">B. Bonanni</name>
<affiliation wicri:level="1">
<nlm:aff id="aff51">
<institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Fortuzzi, S" sort="Fortuzzi, S" uniqKey="Fortuzzi S" first="S" last="Fortuzzi">S. Fortuzzi</name>
<affiliation wicri:level="1">
<nlm:aff id="aff52">
<institution>Cogentech, Consortium for Genomics Technology</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff53">
<institution>Faculty of Medicine, University of Iceland, Department of Oncology, Landspitali-University Hospital</institution>
, Reykjavik,
<country>Iceland</country>
</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Beesley, J" sort="Beesley, J" uniqKey="Beesley J" first="J" last="Beesley">J. Beesley</name>
<affiliation wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff57">
<institution>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon</institution>
, Lyon,
<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Healey, S" sort="Healey, S" uniqKey="Healey S" first="S" last="Healey">S. Healey</name>
<affiliation wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Mcguffog, L" sort="Mcguffog, L" uniqKey="Mcguffog L" first="L" last="Mcguffog">L. Mcguffog</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Brunet, J" sort="Brunet, J" uniqKey="Brunet J" first="J" last="Brunet">J. Brunet</name>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Radice, P" sort="Radice, P" uniqKey="Radice P" first="P" last="Radice">P. Radice</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff6">
<institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J" last="Benítez">J. Benítez</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation>
<nlm:aff id="aff2">
<institution>Spanish Network on Rare Diseases (CIBERER)</institution>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff4">
<institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>
, Madrid,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<idno type="wicri:Area/Pmc/Curation">000090</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000090</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002325</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002325</idno>
<idno type="wicri:Area/Ncbi/Merge">000A18</idno>
<idno type="wicri:Area/Ncbi/Curation">000A18</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000A18</idno>
<idno type="wicri:doubleKey">0007-0920:2011:Osorio A:evaluation:of:the</idno>
<idno type="wicri:Area/Main/Merge">006519</idno>
<idno type="wicri:Area/Main/Curation">006158</idno>
<idno type="wicri:Area/Main/Exploration">006158</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 wicri:level="1">
<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>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff3">
<institution>Genetic and Molecular Epidemiology Group, Spanish National Cancer Centre</institution>
, Madrid,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Alonso, R" sort="Alonso, R" uniqKey="Alonso R" first="R" last="Alonso">R. Alonso</name>
<affiliation wicri:level="1">
<nlm:aff id="aff4">
<institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>
, Madrid,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Pita, G" sort="Pita, G" uniqKey="Pita G" first="G" last="Pita">G. Pita</name>
<affiliation wicri:level="1">
<nlm:aff id="aff4">
<institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>
, Madrid,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Peterlongo, P" sort="Peterlongo, P" uniqKey="Peterlongo P" first="P" last="Peterlongo">P. Peterlongo</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff6">
<institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Teule, A" sort="Teule, A" uniqKey="Teule A" first="A" last="Teulé">A. Teulé</name>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
, Philadelphia, PA,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
, Philadelphia, PA,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Rebbeck, T" sort="Rebbeck, T" uniqKey="Rebbeck T" first="T" last="Rebbeck">T. Rebbeck</name>
<affiliation wicri:level="1">
<nlm:aff id="aff8">
<institution>Abramson Cancer Center, University of Pennsylvania</institution>
, Philadelphia, PA,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Lasa, A" sort="Lasa, A" uniqKey="Lasa A" first="A" last="Lasa">A. Lasa</name>
<affiliation wicri:level="1">
<nlm:aff id="aff9">
<institution>Genetics Service, Hospital de la Santa Creu i Sant Pau</institution>
, Barcelona,
<country>España</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Konstantopoulou, I" sort="Konstantopoulou, I" uniqKey="Konstantopoulou I" first="I" last="Konstantopoulou">I. Konstantopoulou</name>
<affiliation wicri:level="1">
<nlm:aff id="aff10">
<institution>Molecular Diagnostics Lab IRRP, NCSR ‘Demokritos'</institution>
, 15310 Agia Paraskevi,
<country>Greece</country>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff11">
<institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Verhoef, S" sort="Verhoef, S" uniqKey="Verhoef S" first="S" last="Verhoef">S. Verhoef</name>
<affiliation wicri:level="1">
<nlm:aff id="aff12">
<institution>Department of Clinical Genetics, Netherlands Cancer Institute</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff13">
<institution>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center</institution>
, Rotterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Jager, A" sort="Jager, A" uniqKey="Jager A" first="A" last="Jager">A. Jager</name>
<affiliation wicri:level="1">
<nlm:aff id="aff14">
<institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>
, Rotterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff15">
<institution>Department of Medical Genetics, University Medical Center Utrecht</institution>
, Utrecht,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff16">
<institution>Department of Clinical Genetics, Academic Medical Center</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff17">
<institution>Department Of Clinical Genetics, Leiden University Medical Center</institution>
, Leiden,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Vreeswijk, M" sort="Vreeswijk, M" uniqKey="Vreeswijk M" first="M" last="Vreeswijk">M. Vreeswijk</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Waisfisz, Q" sort="Waisfisz, Q" uniqKey="Waisfisz Q" first="Q" last="Waisfisz">Q. Waisfisz</name>
<affiliation wicri:level="1">
<nlm:aff id="aff19">
<institution>Department of Clinical Genetics, VU University Medical Center</institution>
, Amsterdam,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff20">
<institution>Department of Clinical Genetics, University Medical Center</institution>
, Maastricht,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff21">
<institution>Department of Human Genetics and Pathology, Radboud University Nijmegen Medical Centre</institution>
, Nijmegen,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Peock, S" sort="Peock, S" uniqKey="Peock S" first="S" last="Peock">S. Peock</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Cook, M" sort="Cook, M" uniqKey="Cook M" first="M" last="Cook">M. Cook</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Frost, D" sort="Frost, D" uniqKey="Frost D" first="D" last="Frost">D. Frost</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Curzon, B" sort="Curzon, B" uniqKey="Curzon B" first="B" last="Curzon">B. Curzon</name>
<affiliation wicri:level="1">
<nlm:aff id="aff24">
<institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Lalloo, F" sort="Lalloo, F" uniqKey="Lalloo F" first="F" last="Lalloo">F. Lalloo</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Eeles, R" sort="Eeles, R" uniqKey="Eeles R" first="R" last="Eeles">R. Eeles</name>
<affiliation wicri:level="1">
<nlm:aff id="aff26">
<institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Izatt, L" sort="Izatt, L" uniqKey="Izatt L" first="L" last="Izatt">L. Izatt</name>
<affiliation wicri:level="1">
<nlm:aff id="aff27">
<institution>Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust</institution>
, London,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Davidson, R" sort="Davidson, R" uniqKey="Davidson R" first="R" last="Davidson">R. Davidson</name>
<affiliation wicri:level="1">
<nlm:aff id="aff28">
<institution>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals</institution>
, Glasgow,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Adlard, J" sort="Adlard, J" uniqKey="Adlard J" first="J" last="Adlard">J. Adlard</name>
<affiliation wicri:level="1">
<nlm:aff id="aff29">
<institution>Yorkshire Regional Genetics Service</institution>
, Leeds,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Eccles, D" sort="Eccles, D" uniqKey="Eccles D" first="D" last="Eccles">D. Eccles</name>
<affiliation wicri:level="1">
<nlm:aff id="aff30">
<institution>Wessex Clinical Genetics Service, Princess Anne Hospital</institution>
, Southampton,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Douglas, F" sort="Douglas, F" uniqKey="Douglas F" first="F" last="Douglas">F. Douglas</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Downing, S" sort="Downing, S" uniqKey="Downing S" first="S" last="Downing">S. Downing</name>
<affiliation wicri:level="1">
<nlm:aff id="aff33">
<institution>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital</institution>
, Cambridge,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Brewer, C" sort="Brewer, C" uniqKey="Brewer C" first="C" last="Brewer">C. Brewer</name>
<affiliation wicri:level="1">
<nlm:aff id="aff34">
<institution>Department of Clinical Genetics, Royal Devon and Exeter Hospital</institution>
, Exeter,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Walker, L" sort="Walker, L" uniqKey="Walker L" first="L" last="Walker">L. Walker</name>
<affiliation wicri:level="1">
<nlm:aff id="aff35">
<institution>Oxford Regional Genetics Service, Churchill Hospital</institution>
, Oxford,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, H" sort="Nevanlinna, H" uniqKey="Nevanlinna H" first="H" last="Nevanlinna">H. Nevanlinna</name>
<affiliation wicri:level="1">
<nlm:aff id="aff36">
<institution>Department of Obstetrics and Gynecology, Helsinki University Central Hospital</institution>
, Helsinki,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff37">
<institution>Clinical Genetics, Helsinki University Central Hospital</institution>
, Helsinki,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff38">
<institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff39">
<institution>Department of Health Sciences Research, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Fredericksen, Z" sort="Fredericksen, Z" uniqKey="Fredericksen Z" first="Z" last="Fredericksen">Z. Fredericksen</name>
<affiliation wicri:level="1">
<nlm:aff id="aff39">
<institution>Department of Health Sciences Research, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff40">
<institution>Department of Medical Genetics, Mayo Clinic</institution>
, Rochester, MI,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Godwin, A" sort="Godwin, A" uniqKey="Godwin A" first="A" last="Godwin">A. Godwin</name>
<affiliation wicri:level="1">
<nlm:aff id="aff41">
<institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>
, KS,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Isaacs, C" sort="Isaacs, C" uniqKey="Isaacs C" first="C" last="Isaacs">C. Isaacs</name>
<affiliation wicri:level="1">
<nlm:aff id="aff42">
<institution>MD Georgetown University</institution>
, Washington, DC,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff43">
<institution>Division of Pathology, Department of Oncology, University and University Hospital of Pisa</institution>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Loman, N" sort="Loman, N" uniqKey="Loman N" first="N" last="Loman">N. Loman</name>
<affiliation wicri:level="1">
<nlm:aff id="aff44">
<institution>Department of Oncology, Lund University Hospital</institution>
, Lund,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Jernstrom, H" sort="Jernstrom, H" uniqKey="Jernstrom H" first="H" last="Jernström">H. Jernström</name>
<affiliation wicri:level="1">
<nlm:aff id="aff45">
<institution>Department of Oncology, Lund University Hospital</institution>
, Lund,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff46">
<institution>Department of Clinical Genetics, Karolinska University Hospital</institution>
, S-17176 Stockholm,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Liljegren, A" sort="Liljegren, A" uniqKey="Liljegren A" first="A" last="Liljegren">A. Liljegren</name>
<affiliation wicri:level="1">
<nlm:aff id="aff47">
<institution>Department of Oncology, Karolinska University Hospital</institution>
, Stockholm,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ehrencrona, H" sort="Ehrencrona, H" uniqKey="Ehrencrona H" first="H" last="Ehrencrona">H. Ehrencrona</name>
<affiliation wicri:level="1">
<nlm:aff id="aff48">
<institution>Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University</institution>
, S-751 85 Uppsala,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff49">
<institution>Department of Oncology, University Hospital Linköping</institution>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Feliubadal, L" sort="Feliubadal, L" uniqKey="Feliubadal L" first="L" last="Feliubadal">L. Feliubadal</name>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Manoukian, S" sort="Manoukian, S" uniqKey="Manoukian S" first="S" last="Manoukian">S. Manoukian</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Peissel, B" sort="Peissel, B" uniqKey="Peissel B" first="B" last="Peissel">B. Peissel</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Zaffaroni, D" sort="Zaffaroni, D" uniqKey="Zaffaroni D" first="D" last="Zaffaroni">D. Zaffaroni</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Bonanni, B" sort="Bonanni, B" uniqKey="Bonanni B" first="B" last="Bonanni">B. Bonanni</name>
<affiliation wicri:level="1">
<nlm:aff id="aff51">
<institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Fortuzzi, S" sort="Fortuzzi, S" uniqKey="Fortuzzi S" first="S" last="Fortuzzi">S. Fortuzzi</name>
<affiliation wicri:level="1">
<nlm:aff id="aff52">
<institution>Cogentech, Consortium for Genomics Technology</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff53">
<institution>Faculty of Medicine, University of Iceland, Department of Oncology, Landspitali-University Hospital</institution>
, Reykjavik,
<country>Iceland</country>
</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Beesley, J" sort="Beesley, J" uniqKey="Beesley J" first="J" last="Beesley">J. Beesley</name>
<affiliation wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff57">
<institution>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon</institution>
, Lyon,
<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Healey, S" sort="Healey, S" uniqKey="Healey S" first="S" last="Healey">S. Healey</name>
<affiliation wicri:level="1">
<nlm:aff id="aff54">
<institution>Genetics and Population Health Division, Queensland Institute of Medical Research</institution>
, Brisbane,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Mcguffog, L" sort="Mcguffog, L" uniqKey="Mcguffog L" first="L" last="Mcguffog">L. Mcguffog</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1">
<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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Brunet, J" sort="Brunet, J" uniqKey="Brunet J" first="J" last="Brunet">J. Brunet</name>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Hereditary Cancer Program, Catalan Institute of Oncology</institution>
,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Radice, P" sort="Radice, P" uniqKey="Radice P" first="P" last="Radice">P. Radice</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff6">
<institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>
, Milan,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J" last="Benítez">J. Benítez</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation>
<nlm:aff id="aff2">
<institution>Spanish Network on Rare Diseases (CIBERER)</institution>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff4">
<institution>Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre</institution>
, Madrid,
<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
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<li>Italie</li>
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