The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

التفاصيل البيبلوغرافية
العنوان:	The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
المؤلفون:	Lakeman, Inge M M, van den Broek, Alexandra J, Vos, Juliën A M, Barnes, Daniel R, Adlard, Julian, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A, Chung, Wendy K, Claes, Kathleen B M, Collée, J Margriet, Couch, Fergus J, Daly, Mary B, Dennis, Joe, Dhawan, Mallika, Domchek, Susan M, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gayther, Simon A, Gerdes, Anne-Marie, Godwin, Andrew K, Goldgar, David E, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hogervorst, Frans B L, Hooning, Maartje J, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kets, Carolien M, Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue K, Parsons, Michael T, Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A, Schmutzler, Rita K, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tung, Nadine, van Rensburg, Elizabeth J, Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, van Asperen, Christi J, Bernstein, Jonine L, Offit, Kenneth, Easton, Douglas F, Rookus, Matti A, Chenevix-Trench, Georgia, Antoniou, Antonis C, Robson, Mark, Schmidt, Marjanka K
المساهمون:	1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. 2Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 3Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. 4Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. 5Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. 6Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. 7Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. 8Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland. 9BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 10Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany. 11Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany. 12Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA. 13Hereditary cancer Genetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain. 14Department of Medical Oncology, Vall d'Hebron Barcelona Hospital Campus, University Hospital of Vall d'Hebron, Barcelona, Spain. 15Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain. 16Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. 17Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden. 18Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain. 19SOD Genetica Molecolare. University Hospital, Pisa, Italy. 20Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA. 21Centre for Medical Genetics, Ghent University, Ghent, Belgium. 22Department of Clinical Genetics, Erasmus University Medical Center, CA, Rotterdam, The Netherlands. 23Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. 24Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA. 25Cancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, USA. 26Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA. 27Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK. 28Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany. 29Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. 30North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. 31Hereditary Cancer Program, ONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain. 32Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic. 33The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel. 34Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel. 35Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA, USA. 36Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA. 37Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core. Cedars-Sinai Medical Center, Los Angeles, CA, USA. 38Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. 39Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA. 40Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA. 41Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. 42Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. 43Waukesha Memorial Hospital-Pro Health Care, Waukesha, WI, USA. 44Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. 45Family Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. 46Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands. 47Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia. 48Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA. 49The University of Chicago Pritzker School of Medicine, Chicago, IL, USA. 50N.N. Petrov Institute of Oncology, St. Petersburg, Russia. 51Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA. 52Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. 53Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. 54Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland. 55Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, VIC, Australia. 56Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. 57Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania. 58State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania. 59Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. 60Genetic Epidemiology of Cancer team, Paris, France. 61Institut Curie, Paris, France. 62Mines ParisTech, Fontainebleau, France. 63Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA. 64Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA. 65Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. 66David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, USA. 67Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece. 68Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong. 69Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong. 70Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong. 71Département de Génétique, CHU de Grenoble, Grenoble, France. 72Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. 73Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy. 74NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, USA. 75Service de Biologie de la reproduction, Cytogénétique et Génétique Médicale, CHI Poissy-Saint Germain, Poissy, France. 76Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. 77Service de Génétique, Institut Curie, Paris, France. 78Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. 79Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. 80Cancer Genetics Service, National Cancer Centre, Singapore, Singapore. 81Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore. 82Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. 83Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA. 84Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea. 85Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. 86Cancer Research Institute, Seoul National University, Seoul, Korea. 87Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. 88Genome Diagnostics Program, IFOM-the FIRC Institute of Molecular Oncology, Milan, Italy. 89Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy. 90Clinical Genetics, Karolinska Institutet, Stockholm, Sweden. 91Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel. 92Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA. 93Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. 94Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA. 95Genomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, QC, Canada. 96Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria. 97Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. 98Department of Tumour Biology, INSERM U830, Paris, France. 99Université Paris Descartes, Paris, France. 100Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. 101Dept of OB/GYN, Medical University of Vienna, Vienna, Austria. 102Department of Genetics, Portuguese Oncology Institute, Porto, Portugal. 103Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal. 104Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia. 105Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. 106Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark. 107Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. 108Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada. 109Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge. Vol Box 134, Level 6 Addenbrooke's Treatment Centre, Addenbrooke's Hosptital, Cambridge, UK. 110Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA. 111Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA. 112Department of Genetics, University of Pretoria, Arcadia, South Africa. 113Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain. 114Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain. 115Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. 116Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. 117Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK. 118Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands. 119Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. mk.schmidt@nki.nl. 120Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. mk.schmidt@nki.nl. 121Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands. mk.schmidt@nki.nl. #Contributed equally.
المصدر:	Genetics in medicine : official journal of the American College of Medical Genetics ; 23 ; 9 ; 1726 ; 1737 ; United Kingdom ; United States ; Canada
بيانات النشر:	Nature Publishing Group
سنة النشر:	2021
المجموعة:	Hirsla - Landspítali University Hospital research archive
مصطلحات موضوعية:	Brjóstakrabbamein, Gen, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Risk Factors
الوصف:	To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download ; Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making. ; Alpe d'HuZes/Dutch Cancer Society (KWF Kankerbestrijding) project Dutch Cancer Society (KWF Kankerbestrijding) project Cancer Research UK iCOGS: the European Community's Seventh Framework Programme
نوع الوثيقة:	article in journal/newspaper
اللغة:	English
تدمد:	1530-0366
العلاقة:	https://www.nature.com/articles/s41436-021-01198-7Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460445Test/; Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators, Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Wappenschmidt B, Devilee P, van Asperen CJ, Bernstein JL, Offit K, Easton DF, Rookus MA, Chenevix-Trench G, Antoniou AC, Robson M, Schmidt MK. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med. 2021 Sep;23(9):1726-1737. doi:10.1038/s41436-021-01198-7.; http://hdl.handle.net/2336/621933Test; Genetics in medicine : official journal of the American College of Medical Genetics
DOI:	10.1038/s41436-021-01198-7
الإتاحة:	https://doi.org/10.1038/s41436-021-01198-7Test http://hdl.handle.net/2336/621933Test
حقوق:	© 2021. The Author(s). ; Open Access - Opinn aðgangur
رقم الانضمام:	edsbas.24A6E7CD
قاعدة البيانات:	BASE

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تدمد:	15300366
DOI:	10.1038/s41436-021-01198-7