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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pathology of breast and ovarian cancers among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers: results from the Consortium of Investigators of Modifiers of <italic>BRCA1</italic>/<italic>2</italic> (CIMBA)</title><author><name sortKey="Mavaddat, Nasim" sort="Mavaddat, Nasim" uniqKey="Mavaddat N" first="Nasim" last="Mavaddat">Nasim Mavaddat</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A2">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="A3">University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="A4">Faculty of Medicine, University of Southampton, Southampton University Hospitals, NHS Trust, Southampton, UK.</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="A5">Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J." last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="A6">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><nlm:aff id="A7">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="A8">Departments of Medicine, Surgery, and Epidemiology-Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Sherman, Mark" sort="Sherman, Mark" uniqKey="Sherman M" first="Mark" last="Sherman">Mark Sherman</name><affiliation><nlm:aff id="A9">National Cancer Institute, Division of Cancer Epidemiology and Genetics, Hormonal and Reproductive Epidemiology Branch</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="A10">St Michael’s Hospital, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="A11">Department of Laboratory Medicine and Pathology and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="A12">Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="A7">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="A13">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A15">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="A16">Department of Epidemiology, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David" sort="Goldgar, David" uniqKey="Goldgar D" first="David" last="Goldgar">David Goldgar</name><affiliation><nlm:aff id="A17">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="O Alley, Frances" sort="O Alley, Frances" uniqKey="O Alley F" first="Frances" last="O Alley">Frances O Alley</name><affiliation><nlm:aff id="A2">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A18">Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California</nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="A19">Dept. of Molecular and Regenerative medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics</nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="A20">Latvian Biomedical Research and Study Centre, Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V O" last="Hansen">Thomas V O. Hansen</name><affiliation><nlm:aff id="A21">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C." last="Nielsen">Finn C. Nielsen</name><affiliation><nlm:aff id="A21">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="A22">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</nlm:aff></affiliation></author><author><name sortKey="Stavropoulou, Alexandra" sort="Stavropoulou, Alexandra" uniqKey="Stavropoulou A" first="Alexandra" last="Stavropoulou">Alexandra Stavropoulou</name><affiliation><nlm:aff id="A23">Molecular Diagnostics Laboratory, IRRP, National Centre of Scientific Research “Demokritos”, Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="A22">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="A24">Unit of Medical Genetics, Department of Preventive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="A24">Unit of Medical Genetics, Department of Preventive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="A25">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="A26">IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</nlm:aff></affiliation></author><author><name sortKey="Pasini, Barbara" sort="Pasini, Barbara" uniqKey="Pasini B" first="Barbara" last="Pasini">Barbara Pasini</name><affiliation><nlm:aff id="A27">Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="A28">Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy</nlm:aff></affiliation></author><author><name sortKey="Putignano, Anna Laura" sort="Putignano, Anna Laura" uniqKey="Putignano A" first="Anna Laura" last="Putignano">Anna Laura Putignano</name><affiliation><nlm:aff id="A29">Department of Clinical Physiopathology, University of Florence, Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="A30">Department of Molecular Medicine, “Sapienza” University of Rome, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="A31">Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy and IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="A32">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Rashid, Muhammad U" sort="Rashid, Muhammad U" uniqKey="Rashid M" first="Muhammad U." last="Rashid">Muhammad U. Rashid</name><affiliation><nlm:aff id="A32">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B" sort="Hogervorst, Frans B" uniqKey="Hogervorst F" first="Frans B." last="Hogervorst">Frans B. Hogervorst</name><affiliation><nlm:aff id="A34">Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="A35">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="A36">Department of Medical Genetics, University Medical Center Utrecht, The Netherlands</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22144499</idno><idno type="pmc">3272407</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272407</idno><idno type="RBID">PMC:3272407</idno><idno type="doi">10.1158/1055-9965.EPI-11-0775</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">002085</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002085</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pathology of breast and ovarian cancers among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers: results from the Consortium of Investigators of Modifiers of <italic>BRCA1</italic>/<italic>2</italic> (CIMBA)</title><author><name sortKey="Mavaddat, Nasim" sort="Mavaddat, Nasim" uniqKey="Mavaddat N" first="Nasim" last="Mavaddat">Nasim Mavaddat</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A2">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="A3">University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="A4">Faculty of Medicine, University of Southampton, Southampton University Hospitals, NHS Trust, Southampton, UK.</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="A5">Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J." last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="A6">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><nlm:aff id="A7">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="A8">Departments of Medicine, Surgery, and Epidemiology-Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Sherman, Mark" sort="Sherman, Mark" uniqKey="Sherman M" first="Mark" last="Sherman">Mark Sherman</name><affiliation><nlm:aff id="A9">National Cancer Institute, Division of Cancer Epidemiology and Genetics, Hormonal and Reproductive Epidemiology Branch</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="A10">St Michael’s Hospital, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="A11">Department of Laboratory Medicine and Pathology and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="A12">Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="A1">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="A7">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="A13">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A15">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="A16">Department of Epidemiology, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David" sort="Goldgar, David" uniqKey="Goldgar D" first="David" last="Goldgar">David Goldgar</name><affiliation><nlm:aff id="A17">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="O Alley, Frances" sort="O Alley, Frances" uniqKey="O Alley F" first="Frances" last="O Alley">Frances O Alley</name><affiliation><nlm:aff id="A2">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A18">Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California</nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="A19">Dept. of Molecular and Regenerative medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics</nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="A20">Latvian Biomedical Research and Study Centre, Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V O" last="Hansen">Thomas V O. Hansen</name><affiliation><nlm:aff id="A21">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C." last="Nielsen">Finn C. Nielsen</name><affiliation><nlm:aff id="A21">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="A22">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</nlm:aff></affiliation></author><author><name sortKey="Stavropoulou, Alexandra" sort="Stavropoulou, Alexandra" uniqKey="Stavropoulou A" first="Alexandra" last="Stavropoulou">Alexandra Stavropoulou</name><affiliation><nlm:aff id="A23">Molecular Diagnostics Laboratory, IRRP, National Centre of Scientific Research “Demokritos”, Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="A22">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="A24">Unit of Medical Genetics, Department of Preventive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="A24">Unit of Medical Genetics, Department of Preventive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="A25">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="A26">IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</nlm:aff></affiliation></author><author><name sortKey="Pasini, Barbara" sort="Pasini, Barbara" uniqKey="Pasini B" first="Barbara" last="Pasini">Barbara Pasini</name><affiliation><nlm:aff id="A27">Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="A28">Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy</nlm:aff></affiliation></author><author><name sortKey="Putignano, Anna Laura" sort="Putignano, Anna Laura" uniqKey="Putignano A" first="Anna Laura" last="Putignano">Anna Laura Putignano</name><affiliation><nlm:aff id="A29">Department of Clinical Physiopathology, University of Florence, Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="A30">Department of Molecular Medicine, “Sapienza” University of Rome, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="A31">Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy and IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="A32">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Rashid, Muhammad U" sort="Rashid, Muhammad U" uniqKey="Rashid M" first="Muhammad U." last="Rashid">Muhammad U. Rashid</name><affiliation><nlm:aff id="A32">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B" sort="Hogervorst, Frans B" uniqKey="Hogervorst F" first="Frans B." last="Hogervorst">Frans B. Hogervorst</name><affiliation><nlm:aff id="A34">Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="A35">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="A36">Department of Medical Genetics, University Medical Center Utrecht, The Netherlands</nlm:aff></affiliation></author></analytic><series><title level="j">Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology</title><idno type="ISSN">1055-9965</idno><idno type="eISSN">1538-7755</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 id="S1"><title>Background</title><p id="P1">Previous small studies found that <italic>BRCA1</italic> and <italic>BRCA2</italic> breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We used data from 4,325 <italic>BRCA1</italic> and 2,568 <italic>BRCA2</italic> mutation carriers to analyze the pathology of invasive breast, ovarian and contralateral breast cancers.</p></sec><sec id="S3"><title>Results</title><p id="P3">There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among <italic>BRCA1</italic> (<italic>p-trend</italic>=1.2×10<sup>−5</sup>) but increased with age at diagnosis among <italic>BRCA2</italic> carriers (<italic>p-trend</italic>=6.8×10<sup>−6</sup>). The proportion of triple negative tumors decreased with age at diagnosis in <italic>BRCA1</italic> carriers but increased with age at diagnosis of <italic>BRCA2</italic> carriers. In both <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers, ER-negative tumors were of higher histological grade than ER-positive tumors (Grade 3 vs. Grade 1, p=1.2×10<sup>−13</sup> for <italic>BRCA1</italic> and p=0.001 for <italic>BRCA2</italic>). ER and progesterone receptor (PR) expression were independently associated with mutation carrier status (ER-positive odds ratio (OR) for <italic>BRCA2</italic>=9.4, 95%CI:7.0-12.6 and PR-positive OR=1.7, 95%CI:1.3-2.3, under joint analysis). Lobular tumors were more likely to be <italic>BRCA2</italic>-related (OR for <italic>BRCA2</italic>=3.3, 95%CI:2.4-4.4, p=4.4×10<sup>−14</sup>), and medullary tumors <italic>BRCA1</italic>-related (OR for <italic>BRCA2</italic>=0.25, 95%CI:0.18-0.35, p=2.3×10<sup>−15</sup>). ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (p=0.0004 for <italic>BRCA1</italic>; p=0.002 for <italic>BRCA2</italic>). There were no significant differences in ovarian cancer morphology between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (serous:67%; mucinous:1%; endometriod:12%; clear-cell:2%).</p></sec><sec id="S4"><title>Conclusions/Impact</title><p id="P4">Pathology characteristics of <italic>BRCA1</italic> and <italic>BRCA2</italic> tumors may be useful for improving risk prediction algorithms and informing clinical strategies for screening and prophylaxis.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9200608</journal-id><journal-id journal-id-type="pubmed-jr-id">2299</journal-id><journal-id journal-id-type="nlm-ta">Cancer Epidemiol Biomarkers Prev</journal-id><journal-id journal-id-type="iso-abbrev">Cancer Epidemiol. Biomarkers Prev.</journal-id><journal-title-group><journal-title>Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology</journal-title></journal-title-group><issn pub-type="ppub">1055-9965</issn><issn pub-type="epub">1538-7755</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22144499</article-id><article-id pub-id-type="pmc">3272407</article-id><article-id pub-id-type="doi">10.1158/1055-9965.EPI-11-0775</article-id><article-id pub-id-type="manuscript">UKMS39606</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Pathology of breast and ovarian cancers among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers: results from the Consortium of Investigators of Modifiers of <italic>BRCA1</italic>/<italic>2</italic> 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rid="A14">14</xref></contrib><on-behalf-of>for GEMO Study Collaborators</on-behalf-of><xref ref-type="aff" rid="A58">58</xref></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Isaacs</surname><given-names>Claudine</given-names></name><xref ref-type="aff" rid="A62">62</xref></contrib><contrib contrib-type="author"><name><surname>Peshkin</surname><given-names>Beth N.</given-names></name><xref ref-type="aff" rid="A62">62</xref></contrib><contrib contrib-type="author"><name><surname>Caldes</surname><given-names>Trinidad</given-names></name><xref ref-type="aff" rid="A63">63</xref></contrib><contrib contrib-type="author"><name><surname>de al Hoya</surname><given-names>Miguel</given-names></name><xref ref-type="aff" rid="A63">63</xref></contrib><contrib contrib-type="author"><name><surname>Cañadas</surname><given-names>Carmen</given-names></name><xref ref-type="aff" rid="A63">63</xref></contrib><contrib contrib-type="author"><name><surname>Heikkinen</surname><given-names>Tuomas</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Heikkilä</surname><given-names>Päivi</given-names></name><xref ref-type="aff" rid="A64">64</xref></contrib><contrib contrib-type="author"><name><surname>Aittomäki</surname><given-names>Kristiina</given-names></name><xref ref-type="aff" rid="A65">65</xref></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name><xref ref-type="aff" rid="A66">66</xref></contrib><contrib contrib-type="author"><name><surname>Lazaro</surname><given-names>Conxi</given-names></name><xref ref-type="aff" rid="A67">67</xref></contrib><contrib contrib-type="author"><name><surname>Brunet</surname><given-names>Joan</given-names></name><xref ref-type="aff" rid="A68">68</xref></contrib><contrib contrib-type="author"><name><surname>Agnarsson</surname><given-names>Bjarni A.</given-names></name><xref ref-type="aff" rid="A69">69</xref></contrib><contrib contrib-type="author"><name><surname>Arason</surname><given-names>Adalgeir</given-names></name><xref ref-type="aff" rid="A69">69</xref></contrib><contrib contrib-type="author"><name><surname>Barkardottir</surname><given-names>Rosa B.</given-names></name><xref ref-type="aff" rid="A69">69</xref></contrib><contrib contrib-type="author"><name><surname>Dumont</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="A70">70</xref></contrib><contrib contrib-type="author"><name><surname>Simard</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="A71">71</xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="A72">72</xref></contrib><contrib contrib-type="author"><name><surname>Agata</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="A72">72</xref></contrib><contrib contrib-type="author"><name><surname>D’Andrea</surname><given-names>Emma</given-names></name><xref ref-type="aff" rid="A73">73</xref></contrib><contrib contrib-type="author"><name><surname>Yan</surname><given-names>Max</given-names></name><xref ref-type="aff" rid="A74">74</xref></contrib><contrib contrib-type="author"><name><surname>Fox</surname><given-names>Stephen</given-names></name><xref ref-type="aff" rid="A75">75</xref></contrib><on-behalf-of>for kConFab Investigators</on-behalf-of><xref ref-type="aff" rid="A75">75</xref></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name><xref ref-type="aff" rid="A76">76</xref></contrib><contrib contrib-type="author"><name><surname>Rubinstein</surname><given-names>Wendy</given-names></name><xref ref-type="aff" rid="A77">77</xref></contrib><contrib contrib-type="author"><name><surname>Tung</surname><given-names>Nadine</given-names></name><xref ref-type="aff" rid="A78">78</xref></contrib><contrib contrib-type="author"><name><surname>Garber</surname><given-names>Judy E.</given-names></name><xref ref-type="aff" rid="A79">79</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="A80">80</xref></contrib><contrib contrib-type="author"><name><surname>Fredericksen</surname><given-names>Zachary</given-names></name><xref ref-type="aff" rid="A81">81</xref></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>Vernon S.</given-names></name><xref ref-type="aff" rid="A81">81</xref></contrib><contrib contrib-type="author"><name><surname>Lindor</surname><given-names>Noralane M.</given-names></name><xref ref-type="aff" rid="A82">82</xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla</given-names></name><xref ref-type="aff" rid="A83">83</xref></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Sakr</surname><given-names>Rita</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Gaudet</surname><given-names>Mia M.</given-names></name><xref ref-type="aff" rid="A84">84</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="A85">85</xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><xref ref-type="aff" rid="A85">85</xref></contrib><contrib contrib-type="author"><name><surname>Rappaport</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A85">85</xref></contrib><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name><xref ref-type="aff" rid="A86">86</xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name><xref ref-type="aff" rid="A86">86</xref></contrib><contrib contrib-type="author"><name><surname>Sokolenko</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="A87">87</xref></contrib><contrib contrib-type="author"><name><surname>Imyanitov</surname><given-names>Evgeny</given-names></name><xref ref-type="aff" rid="A87">87</xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda Ewart</given-names></name><xref ref-type="aff" rid="A88">88</xref></contrib><contrib contrib-type="author"><name><surname>Senter</surname><given-names>Leigha</given-names></name><xref ref-type="aff" rid="A89">89</xref></contrib><contrib contrib-type="author"><name><surname>Sweet</surname><given-names>Kevin</given-names></name><xref ref-type="aff" rid="A89">89</xref></contrib><contrib contrib-type="author"><name><surname>Thomassen</surname><given-names>Mads</given-names></name><xref ref-type="aff" rid="A90">90</xref></contrib><contrib contrib-type="author"><name><surname>Gerdes</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="A91">91</xref></contrib><contrib contrib-type="author"><name><surname>Kruse</surname><given-names>Torben</given-names></name><xref ref-type="aff" rid="A90">90</xref></contrib><contrib contrib-type="author"><name><surname>Caligo</surname><given-names>Maria</given-names></name><xref ref-type="aff" rid="A92">92</xref></contrib><contrib contrib-type="author"><name><surname>Aretini</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="A92">92</xref></contrib><contrib contrib-type="author"><name><surname>Rantala</surname><given-names>Johanna</given-names></name><xref ref-type="aff" rid="A93">93</xref></contrib><contrib contrib-type="author"><name><surname>von Wachenfeld</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="A94">94</xref></contrib><contrib contrib-type="author"><name><surname>Henriksson</surname><given-names>Karin</given-names></name><xref ref-type="aff" rid="A95">95</xref></contrib><on-behalf-of>for SWE-BRCA Collaborators</on-behalf-of><xref ref-type="aff" rid="A96">96</xref></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Steele</surname><given-names>Linda</given-names></name><xref ref-type="aff" rid="A97">97</xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name><xref ref-type="aff" rid="A97">97</xref></contrib><contrib contrib-type="author"><name><surname>Nussbaum</surname><given-names>Bob</given-names></name><xref ref-type="aff" rid="A98">98</xref></contrib><contrib contrib-type="author"><name><surname>Beattie</surname><given-names>Mary</given-names></name><xref ref-type="aff" rid="A99">99</xref></contrib><contrib contrib-type="author"><name><surname>Odunsi</surname><given-names>Kunle</given-names></name><xref ref-type="aff" rid="A100">100</xref></contrib><contrib contrib-type="author"><name><surname>Sucheston</surname><given-names>Lara</given-names></name><xref ref-type="aff" rid="A101">101</xref></contrib><contrib contrib-type="author"><name><surname>Gayther</surname><given-names>Simon A</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Kate</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gross</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="A102">102</xref></contrib><contrib contrib-type="author"><name><surname>Walsh</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A102">102</xref></contrib><contrib contrib-type="author"><name><surname>Karlan</surname><given-names>Beth</given-names></name><xref ref-type="aff" rid="A102">102</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><on-behalf-of>for the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic></on-behalf-of></contrib-group><aff id="A1"><label>1</label>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK</aff><aff id="A2"><label>2</label>Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</aff><aff id="A3"><label>3</label>University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A4"><label>4</label>Faculty of Medicine, University of Southampton, Southampton University Hospitals, NHS Trust, Southampton, UK.</aff><aff id="A5"><label>5</label>Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A6"><label>6</label>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA</aff><aff id="A7"><label>7</label>Queensland Institute of Medical Research, Brisbane, Australia</aff><aff id="A8"><label>8</label>Departments of Medicine, Surgery, and Epidemiology-Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY</aff><aff id="A9"><label>9</label>National Cancer Institute, Division of Cancer Epidemiology and Genetics, Hormonal and Reproductive Epidemiology Branch</aff><aff id="A10"><label>10</label>St Michael’s Hospital, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada</aff><aff id="A11"><label>11</label>Department of Laboratory Medicine and Pathology and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA</aff><aff id="A12"><label>12</label>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany</aff><aff id="A13"><label>13</label>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</aff><aff id="A14"><label>14</label>INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France</aff><aff id="A15"><label>15</label>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</aff><aff id="A16"><label>16</label>Department of Epidemiology, Columbia University, New York, NY, USA</aff><aff id="A17"><label>17</label>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA</aff><aff id="A18"><label>18</label>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California</aff><aff id="A19"><label>19</label>Dept. of Molecular and Regenerative medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics</aff><aff id="A20"><label>20</label>Latvian Biomedical Research and Study Centre, Riga, Latvia</aff><aff id="A21"><label>21</label>Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</aff><aff id="A22"><label>22</label>Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</aff><aff id="A23"><label>23</label>Molecular Diagnostics Laboratory, IRRP, National Centre of Scientific Research “Demokritos”, Athens, Greece</aff><aff id="A24"><label>24</label>Unit of Medical Genetics, Department of Preventive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</aff><aff id="A25"><label>25</label>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy</aff><aff id="A26"><label>26</label>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</aff><aff id="A27"><label>27</label>Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy</aff><aff id="A28"><label>28</label>Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy</aff><aff id="A29"><label>29</label>Department of Clinical Physiopathology, University of Florence, Florence, Italy</aff><aff id="A30"><label>30</label>Department of Molecular Medicine, “Sapienza” University of Rome, Rome, Italy</aff><aff id="A31"><label>31</label>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy and IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.</aff><aff id="A32"><label>32</label>Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</aff><aff id="A33"><label>33</label>Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore, Pakistan</aff><aff id="A34"><label>34</label>Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</aff><aff id="A35"><label>35</label>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</aff><aff id="A36"><label>36</label>Department of Medical Genetics, University Medical Center Utrecht, The Netherlands</aff><aff id="A37"><label>37</label>Netherlands Cancer Institute, Amsterdam, The Netherlands</aff><aff id="A38"><label>38</label>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</aff><aff id="A39"><label>39</label>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK</aff><aff id="A40"><label>40</label>Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK</aff><aff id="A41"><label>41</label>All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK</aff><aff id="A42"><label>42</label>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK</aff><aff id="A43"><label>43</label>Cheshire & Merseyside Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust, Liverpool, UK</aff><aff id="A44"><label>44</label>Biosample Repository, Fox Chase Cancer Center, Philadelphia, PA, USA</aff><aff id="A45"><label>45</label>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS USA</aff><aff id="A46"><label>46</label>Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University hospital of Cologne, Germany</aff><aff id="A47"><label>47</label>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Germany</aff><aff id="A48"><label>48</label>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Germany</aff><aff id="A49"><label>49</label>Institute of Human Genetics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Germany</aff><aff id="A50"><label>50</label>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Germany</aff><aff id="A51"><label>51</label>Institute of Human Genetics, Department of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany</aff><aff id="A52"><label>52</label>Department of Gynaecology and Obstetrics, University Hospital Ulm, Germany</aff><aff id="A53"><label>53</label>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</aff><aff id="A54"><label>54</label>Institute of Human Genetics, University of Münster, Münster, Germany</aff><aff id="A55"><label>55</label>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Germany</aff><aff id="A56"><label>56</label>Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Germany</aff><aff id="A57"><label>57</label>Institute of Cancer Research, UK</aff><aff id="A58"><label>58</label>Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France</aff><aff id="A59"><label>59</label>Service de Génétique Oncologique, Institut Curie, Paris, France</aff><aff id="A60"><label>60</label>Unité INSERM U830, Institut Curie, Paris, France</aff><aff id="A61"><label>61</label>Université Paris Descartes, Faculté de Médecine, Paris, France</aff><aff id="A62"><label>62</label>Lombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA</aff><aff id="A63"><label>63</label>Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain</aff><aff id="A64"><label>64</label>Department of Pathology, Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A65"><label>65</label>Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A66"><label>66</label>Hereditary Cancer Program, Institut Català d’Oncologia, Germans Trias i Pujol Biopmedical research Institute (IGTP), Badalona, Barcelona, Spain</aff><aff id="A67"><label>67</label>Hereditary Cancer Program, Institut Català d’Oncologia, Hospital Duran i Reynals - Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain</aff><aff id="A68"><label>68</label>Hereditary Cancer Program, Institut Català d’Oncologia, Hospital Josp Trueta - Girona Biomedical Research Institute (IdiBGi), Girona, Spain</aff><aff id="A69"><label>69</label>Department of Pathology, Landspitali, University Hospital, Reykjavik, Iceland, and Faculty of Medicine, University of Iceland, Reykjavik, Iceland</aff><aff id="A70"><label>70</label>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, 2705 Laurier Boulevard, T3-57, Quebec City (Quebec), Canada</aff><aff id="A71"><label>71</label>Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, 2705 Laurier Boulevard, T3-57, Quebec City (Quebec), Canada</aff><aff id="A72"><label>72</label>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Via Gattamelata 64, 35128 Padua, Italy</aff><aff id="A73"><label>73</label>Department of Oncology and Surgical Sciences, University of Padua and Istituto Oncologico Veneto IOV - IRCCS, Via Gattamelata 64, 35128 Padua, Italy</aff><aff id="A74"><label>74</label>Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, 2031, Australia.</aff><aff id="A75"><label>75</label>Peter MacCallum Cancer Centre, Melbourne, Australia</aff><aff id="A76"><label>76</label>Center for Clinical Epidemiology and Biostatistics and Abramson Cancer Center, University of Pennsylvania, Philadelphia, USA</aff><aff id="A77"><label>77</label>Center for Medical Genetics, North Shore University Health System, Evanston, IL USA</aff><aff id="A78"><label>78</label>Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA USA</aff><aff id="A79"><label>79</label>Dana-Farber Cancer Institute, Boston, MA, USA</aff><aff id="A80"><label>80</label>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA</aff><aff id="A81"><label>81</label>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA</aff><aff id="A82"><label>82</label>Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA</aff><aff id="A83"><label>83</label>University of Delaware, Newark, Delaware, USA</aff><aff id="A84"><label>84</label>Epidemiology Research Program, American Cancer Society, Atlanta.</aff><aff id="A85"><label>85</label>Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna</aff><aff id="A86"><label>86</label>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville MD USA</aff><aff id="A87"><label>87</label>Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St. Petersburg, Russia and Department of Medical Genetics, St. Petersburg Pediatric Medical Academy, Russia.</aff><aff id="A88"><label>88</label>Department of Molecular Virology, Immunology and Medical Genetics and the Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University Medical Center</aff><aff id="A89"><label>89</label>Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University Medical Center</aff><aff id="A90"><label>90</label>Department of Clinical Genetics, Odense University Hospital, Denmark</aff><aff id="A91"><label>91</label>Department of Clinical Genetics, Rigshospitalet, Copenhagen University, Denmark</aff><aff id="A92"><label>92</label>Section of Genetic Oncology, Dept. of Laboratory Medicine, University and University Hospital of Pisa, Pisa Italy</aff><aff id="A93"><label>93</label>Department of Clinical Genetics, Karolinska University Hospital, S-17176 Stockholm, Sweden</aff><aff id="A94"><label>94</label>Department of Oncology, Karolinska University Hospital, S-17176 Stockholm, Sweden</aff><aff id="A95"><label>95</label>Oncological Centre, Lund University Hospital, S-22185, Lund, Sweden Stockholm, Karolinska University</aff><aff id="A96"><label>96</label>Karolinska University , Stockholm, Sweden</aff><aff id="A97"><label>97</label>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, CA, USA</aff><aff id="A98"><label>98</label>Department of Medicine, Division of Medical Genetics, University of California San Francisco, USA</aff><aff id="A99"><label>99</label>Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, USA</aff><aff id="A100"><label>100</label>Department of Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, NY</aff><aff id="A101"><label>101</label>Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY</aff><aff id="A102"><label>102</label>Women’s Cancer Program at the Samuel Oschin Cancer Institute and Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars Sinai Medical Center</aff><author-notes><corresp id="CR1">Correspondence to: Antonis Antoniou, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom. Phone: +44 (0)1223 740 145, Fax: +44 (0)1223 740 163, <email>antonis@srl.cam.ac.uk</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>3</day><month>12</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>05</day><month>12</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2012</year></pub-date><volume>21</volume><issue>1</issue><fpage>134</fpage><lpage>147</lpage><abstract><sec id="S1"><title>Background</title><p id="P1">Previous small studies found that <italic>BRCA1</italic> and <italic>BRCA2</italic> breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We used data from 4,325 <italic>BRCA1</italic> and 2,568 <italic>BRCA2</italic> mutation carriers to analyze the pathology of invasive breast, ovarian and contralateral breast cancers.</p></sec><sec id="S3"><title>Results</title><p id="P3">There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among <italic>BRCA1</italic> (<italic>p-trend</italic>=1.2×10<sup>−5</sup>) but increased with age at diagnosis among <italic>BRCA2</italic> carriers (<italic>p-trend</italic>=6.8×10<sup>−6</sup>). The proportion of triple negative tumors decreased with age at diagnosis in <italic>BRCA1</italic> carriers but increased with age at diagnosis of <italic>BRCA2</italic> carriers. In both <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers, ER-negative tumors were of higher histological grade than ER-positive tumors (Grade 3 vs. Grade 1, p=1.2×10<sup>−13</sup> for <italic>BRCA1</italic> and p=0.001 for <italic>BRCA2</italic>). ER and progesterone receptor (PR) expression were independently associated with mutation carrier status (ER-positive odds ratio (OR) for <italic>BRCA2</italic>=9.4, 95%CI:7.0-12.6 and PR-positive OR=1.7, 95%CI:1.3-2.3, under joint analysis). Lobular tumors were more likely to be <italic>BRCA2</italic>-related (OR for <italic>BRCA2</italic>=3.3, 95%CI:2.4-4.4, p=4.4×10<sup>−14</sup>), and medullary tumors <italic>BRCA1</italic>-related (OR for <italic>BRCA2</italic>=0.25, 95%CI:0.18-0.35, p=2.3×10<sup>−15</sup>). ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (p=0.0004 for <italic>BRCA1</italic>; p=0.002 for <italic>BRCA2</italic>). There were no significant differences in ovarian cancer morphology between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (serous:67%; mucinous:1%; endometriod:12%; clear-cell:2%).</p></sec><sec id="S4"><title>Conclusions/Impact</title><p id="P4">Pathology characteristics of <italic>BRCA1</italic> and <italic>BRCA2</italic> tumors may be useful for improving risk prediction algorithms and informing clinical strategies for screening and prophylaxis.</p></sec></abstract><kwd-group><kwd>pathology</kwd><kwd>breast</kwd><kwd><italic>BRCA1</italic></kwd><kwd><italic>BRCA2</italic></kwd><kwd>contralateral</kwd></kwd-group><funding-group><award-group><funding-source country="United Kingdom">Cancer Research UK : </funding-source><award-id>A11174 || CRUK_</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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