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Title: | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. | Authors: | Heemskerk-Gerritsen B.A.M.;Ito H.;Jakimovska M.;Jakubowska A.;Janni W.;John E.M.;Jung A.;Kang D.;Kets C.M.;Khusnutdinova E.;Ko Y.-D.;Kristensen V.N.;Kurian A.W.;Kwong A.;Lambrechts D.;Le Marchand L.;Li J.;Lindblom A.;Lubinski J.;Mannermaa A.;Manoochehri M.;Margolin S.;Matsuo K.;Mavroudis D.;Meindl A.;Milne R.L.;Mulligan A.M.;Muranen T.A.;Neuhausen S.L.;Nevanlinna H.;Newman W.G.;Olshan A.F.;Olson J.E.;Olsson H.;Park-Simon T.-W.;Peto J.;Petridis C.;Plaseska-Karanfilska D.;Presneau N.;Pylkas K.;Radice P.;Rennert G.;Romero A.;Roylance R.;Saloustros E.;Sawyer E.J.;Schmutzler R.K.;Schwentner L.;Scott C.;See M.-H.;Shah M.;Shen C.-Y.;Shu X.-O.;Siesling S.;Slager S.;Sohn C.;Spinelli J.J.;Stone J.;Tapper W.J.;Tengstrom M.;Teo S.H.;Terry M.B.;Tollenaar R.A.E.M.;Tomlinson I.;Troester M.A.;Vachon C.M.;van Ongeval C.;van Veen E.M.;Winqvist R.;Wolk A.;Zheng W.;Ziogas A.;Easton D.F.;Hall P.;Schmidt M.K.;Kramer I.;Hooning M.J.;Mavaddat N.;Hauptmann M.;Keeman R.;Steyerberg E.W.;Giardiello D.;Antoniou A.C.;Pharoah P.D.P.;Canisius S.;Abu-Ful Z.;Andrulis I.L.;Anton-Culver H.;Aronson K.J.;Augustinsson A.;Becher H.;Beckmann M.W.;Behrens S.;Benitez J.;Bermisheva M.;Bogdanova N.V.;Bojesen S.E.;Bolla M.K.;Bonanni B.;Brauch H.;Bremer M.;Brucker S.Y.;Burwinkel B.;Castelao J.E.;Chan T.L.;Chang-Claude J.;Chanock S.J.;Chenevix-Trench G.;Choi J.-Y.;Clarke C.L.;Borresen-Dale A.-L.;Sahlberg K.;Ottestad L.;Karesen R.;Schlichting E.;Holmen M.M.;Sauer T.;Haakensen V.;Engebraten O.;Naume B.;Fossa A.;Kiserud C.;Reinertsen K.;Helland A.;Riis M.;Geisler J.;Alnaes G.G.;Collee J.M.;Couch F.J.;Cox A.;Cross S.S.;Czene K.;Daly M.B.;Devilee P.;Dork T.;dos-Santos-Silva I.;Dunning A.M.;Dwek M.;Eccles D.M.;Evans D.G.;Fasching P.A.;Flyger H.;Gago-Dominguez M.;Garcia-Closas M.;Garcia-Saenz J.A.;Giles G.G.;Goldgar D.E.;Gonzalez-Neira A.;Haiman C.A.;Hakansson N.;Hamann U.;Hartman M.;Hollestelle A.;Hopper J.L.;Hou M.-F.;Howell A.;Clarke C.;Marsh D.;Scott R.;Baxter R.;Yip D.;Carpenter J.;Davis A. ;Pathmanathan N.;Simpson P.;Graham J.D.;Sachchithananthan M.;Amor D.;Andrews L.;Antill Y.;Balleine R.;Beesley J.;Bennett I.;Bogwitz M.;Botes L.;Brennan M.;Brown M.;Buckley M.;Burke J.;Butow P.;Caldon L.;Campbell I.;Chauhan D.;Chauhan M.;Christian A.;Cohen P.;Colley A.;Crook A.;Cui J.;Cummings M.;Dawson S.-J.;deFazio A.;Delatycki M.;Dickson R.;Dixon J.;Edkins T.;Edwards S.;Farshid G.;Fellows A.;Fenton G.;Field M.;Flanagan J.;Fong P.;Forrest L.;Fox S.;French J.;Friedlander M.;Gaff C.;Gattas M.;George P.;Greening S.;Harris M. ;Hart S.;Hayward N.;Hopper J.;Hoskins C.;Hunt C.;James P.;Jenkins M.;Kidd A.;Kirk J.;Koehler J.;Kollias J.;Lakhani S.;Lawrence M.;Lindeman G.;Lipton L.;Lobb L.;Mann G.;McLachlan S.A.;Meiser B.;Nightingale S.;O'Connell S.;O'Sullivan S.;Ortega D.G.;Pachter N.;Patterson B.;Pearn A.;Phillips K.;Pieper E.;Rickard E.;Robinson B.;Saleh M.;Salisbury E.;Saunders C.;Saunus J.;Sexton A.;Shelling A.;Southey M.C.;Spurdle A.;Taylor J.;Taylor R.;Thorne H.;Trainer A.;Tucker K.;Visvader J.;Walker L.;Williams R.;Winship I.;Young M.A. | Institution: | (Kramer, Keeman, Giardiello, Canisius, Schmidt) The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam 1066 CX, Netherlands (Hooning, Heemskerk-Gerritsen, Hollestelle) Erasmus MC Cancer Institute, Department of Medical Oncology, Rotterdam 3015 CN, Netherlands (Mavaddat, Antoniou, Pharoah, Bolla, Easton) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge CB1 8RN, United Kingdom (Hauptmann) The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Department of Epidemiology and Biostatistics, Amsterdam 1066 CX, Netherlands (Hauptmann) Brandenburg Medical School Theodor Fontane, Institute of Biostatistics and Registry Research, Neuruppin 16816, Germany (Steyerberg, Giardiello) Leiden University Medical Center, Department of Biomedical Data Sciences, Leiden 2333 ZA, Netherlands (Steyerberg) Erasmus MC, Department of Public Health, Rotterdam 3015 GD, Netherlands (Pharoah, Dunning, Shah, Easton) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge CB1 8RN, United Kingdom (Canisius) The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Division of Molecular Carcinogenesis, Amsterdam 1066 CX, Netherlands (Abu-Ful, Rennert) Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa 35254, Israel (Andrulis) Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON M5G 1X5, Canada (Andrulis) University of Toronto, Department of Molecular Genetics, Toronto, ON M5S 1A8, Canada (Anton-Culver, Ziogas) University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA 92617, United States (Aronson) Queen's University, Department of Public Health Sciences, and Cancer Research Institute, Kingston, ON K7L 3N6, Canada (Augustinsson, Olsson) Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund 222 42, Sweden (Becher) University Medical Center Hamburg-Eppendorf, Institute of Medical Biometry and Epidemiology, Hamburg 20246, Germany (Becher) Charite -Universitatsmedizin Berlin, Institute of Biometry and Clinical Epidemiology, Berlin 10117, Germany (Beckmann, Fasching) University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen 91054, Germany (Behrens, Chang-Claude, Jung) German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg 69120, Germany (Benitez) Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain (Benitez, Gonzalez-Neira) Spanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid 28029, Spain (Bermisheva, Khusnutdinova) Ufa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa 450054, Russian Federation (Bogdanova, Bremer) Hannover Medical School, Department of Radiation Oncology, Hannover 30625, Germany (Bogdanova, Dork, Park-Simon) Hannover Medical School, Gynaecology Research Unit, Hannover 30625, Germany (Bogdanova) N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk 223040, Belarus (Bojesen) Copenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev 2730, Denmark (Bojesen) Copenhagen University Hospital, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Herlev 2730, Denmark (Bojesen) University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen 2200, Denmark (Bonanni) IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan 20141, Italy (Brauch) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart 70376, Germany (Brauch) University of Tubingen, iFIT-Cluster of Excellence, Tubingen 72074, Germany (Brauch) German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Tubingen, Tubingen 72074, Germany (Brucker) University of Tubingen, Department of Gynecology and Obstetrics, Tubingen 72076, Germany (Burwinkel) German Cancer Research Center (DKFZ), Molecular Epidemiology Group, C080, Heidelberg 69120, Germany (Burwinkel) University of Heidelberg, Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, Heidelberg 69120, Germany (Castelao) Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo 36312, Spain (Chan, Kwong) Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong (Chan) Hong Kong Sanatorium and Hospital, Department of Pathology, Happy Valley, Hong Kong (Chang-Claude) University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg 20246, Germany (Chanock, Garcia-Closas) National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD 20850, United States (Chenevix-Trench) QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD 4006, Australia (Choi, Kang) Seoul National University Graduate School, Department of Biomedical Sciences, Seoul 03080, South Korea (Choi, Kang) Seoul National University, Cancer Research Institute, Seoul 03080, South Korea (Clarke) University of Sydney, Westmead Institute for Medical Research, Sydney, NSW 2145, Australia (Kristensen) Oslo University Hospital-Radiumhospitalet, Department of Cancer Genetics, Institute for Cancer Research, Oslo 0379, Norway (Kristensen) Oslo University Hospital and University of Olso, Department of Medical Genetics, Oslo 0379, Norway (Collee) Erasmus University Medical Center, Department of Clinical Genetics, Rotterdam 3015 CN, Netherlands (Couch) Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN 55905, United States (Cox) University of Sheffield, Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, Sheffield S10 2TN, United Kingdom (Cross) University of Sheffield, Academic Unit of Pathology, Department of Neuroscience, Sheffield S10 2TN, United Kingdom (Czene, Hall) Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm 171 65, Sweden (Daly) Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA 19111, United States (Devilee) Leiden University Medical Center, Department of Pathology, Leiden, ZA 2333, Netherlands (Devilee) Leiden University Medical Center, Department of Human Genetics, Leiden, ZA 2333, Netherlands (dos-Santos-Silva, Peto) London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology, London WC1E 7HT, United Kingdom (Dwek, Presneau) University of Westminster, School of Life Sciences, London W1B 2HW, United Kingdom (Eccles, Tapper) University of Southampton, Faculty of Medicine, Southampton SO17 1BJ, United Kingdom (Evans, Newman, van Veen) University of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester M13 9WL, United Kingdom (Evans, Newman, van Veen) St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester M13 9WL, United Kingdom (Fasching) University of California at Los Angeles, David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, Los Angeles, CA 90095, United States (Flyger) Copenhagen University Hospital, Department of Breast Surgery, Herlev and Gentofte Hospital, Herlev 2730, Denmark (Gago-Dominguez) Grupo de Medicina Xenomica, Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela 15706, Spain (Gago-Dominguez) University of California San Diego, Moores Cancer Center, La Jolla, CA 92037, United States (Garcia-Saenz) Instituto de Investigacion Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Medical Oncology Department, Hospital Clinico San Carlos, Madrid 28040, Spain (Giles, Southey, Milne) Cancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC 3004, Australia (Giles, Hopper, Milne, Stone) The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC 3010, Australia (Giles, Southey, Milne) Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC 3168, Australia (Goldgar) Huntsman Cancer Institute, University of Utah School of Medicine, Department of Dermatology, Salt Lake City, UT 84112, United States (Haiman) University of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA 90033, United States (Hakansson, Wolk) Karolinska Institutet, Institute of Environmental Medicine, Stockholm 171 77, Sweden (Hamann, Manoochehri) German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg 69120, Germany (Hartman) National University of Singapore and National University Health System, Saw Swee Hock School of Public Health, Singapore 119077, Singapore (Hartman) National University Health System, Department of Surgery, Singapore 119228, Singapore (Hou) Kaohsiung Medical University, Chung-Ho Memorial Hospital, Kaohsiung 807, Taiwan (Republic of China) (Howell) University of Manchester, Division of Cancer Sciences, Manchester M13 9PL, United Kingdom (Ito, Matsuo) Aichi Cancer Center Research Institute, Division of Cancer Epidemiology and Prevention, Nagoya 464-8681, Japan (Ito, Matsuo) Nagoya University Graduate School of Medicine, Division of Cancer Epidemiology, Nagoya 466-8550, Japan (Jakimovska, Plaseska-Karanfilska) MASA, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje 1000, North Macedonia (Jakubowska, Lubinski) Pomeranian Medical University, Department of Genetics and Pathology, Szczecin 71-252, Poland (Jakubowska) Pomeranian Medical University, Independent Laboratory of Molecular Biology and Genetic Diagnostics, Szczecin 71-252, Poland (Janni, Schwentner) University Hospital Ulm, Department of Gynaecology and Obstetrics, Ulm 89075, Germany (John, Kurian) Stanford Cancer Institute, Stanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA 94304, United States (Kang) Seoul National University College of Medicine, Department of Preventive Medicine, Seoul 03080, South Korea (Kets) the Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Department of Clinical Genetics, Amsterdam 1066 CX, Netherlands (Khusnutdinova) Bashkir State University, Department of Genetics and Fundamental Medicine, Ufa 450000, Russian Federation (Ko) Johanniter Krankenhaus, Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Bonn 53177, Germany (Kurian) Stanford University School of Medicine, Department of Health Research and Policy, Stanford, CA 94305, United States (Kwong) The University of Hong Kong, Department of Surgery, Pok Fu Lam, Hong Kong (Kwong) Hong Kong Sanatorium and Hospital, Cancer Genetics Center and Department of Surgery, Happy Valley, Hong Kong (Lambrechts) VIB Center for Cancer Biology, Leuven 3001, Belgium (Lambrechts) University of Leuven, Laboratory for Translational Genetics, Department of Human Genetics, Leuven 3000, Belgium (Le Marchand) University of Hawaii Cancer Center, Epidemiology Program, Honolulu, HI 96813, United States (Li) Genome Institute of Singapore, Human Genetics Division, Singapore 138672, Singapore (Lindblom) Karolinska Institutet, Department of Molecular Medicine and Surgery, Stockholm 171 76, Sweden (Lindblom) Karolinska University Hospital, Department of Clinical Genetics, Stockholm 171 76, Sweden (Mannermaa, Tengstrom) University of Eastern Finland, Translational Cancer Research Area, Kuopio 70210, Finland (Mannermaa) University of Eastern Finland, Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio 70210, Finland (Mannermaa) Kuopio University Hospital, Biobank of Eastern Finland, Kuopio 70210, Finland (Margolin, Hall) Sodersjukhuset, Department of Oncology, Stockholm 118 83, Sweden (Margolin) Karolinska Institutet, Department of Clinical Science and Education, Sodersjukhuset, Stockholm 118 83, Sweden (Mavroudis) University Hospital of Heraklion, Department of Medical Oncology, Heraklion 711 10, Greece (Meindl) University of Munich, Campus Groshadern, Department of Gynecology and Obstetrics, Munich 81377, Germany (Mulligan) University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON M5S 1A8, Canada (Mulligan) University Health Network, Laboratory Medicine Program, Toronto, ON M5G 2C4, Canada (Muranen, Nevanlinna) Helsinki University Hospital, Department of Obstetrics and Gynecology, University of Helsinki, Helsinki 00290, Finland (Neuhausen) Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA 91010, United States (Olshan, Troester) University of North Carolina at Chapel Hill, Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, Chapel Hill, NC 27599, United States (Olson, Scott, Slager) Mayo Clinic, Department of Health Sciences Research, Rochester, MN 55905, United States (Petridis) King's College London, Research Oncology, Guy's Hospital, London SE1 9RT, United Kingdom (Pylkas, Winqvist) University of Oulu, Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, Oulu 90220, Finland (Pylkas, Winqvist) Northern Finland Laboratory Centre Oulu, Laboratory of Cancer Genetics and Tumor Biology, Oulu 90220, Finland (Radice) Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan 20133, Italy (Romero) Hospital Universitario Puerta de Hierro, Medical Oncology Department, Madrid 28222, Spain (Roylance) UCLH Foundation Trust, Department of Oncology, London NW1 2PG, United Kingdom (Saloustros) University Hospital of Larissa, Department of Oncology, Larissa 411 10, Greece (Sawyer) King's College London, School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, London SE1 1UL, United Kingdom (Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne 50937, Germany (Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Integrated Oncology (CIO), Cologne 50937, Germany (Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne 50931, Germany (See) University of Malaya, Breast Cancer Research Unit, University Malaya Cancer Research Institute, Faculty of Medicine, Kuala Lumpur 50603, Malaysia (Shen) Academia Sinica, Institute of Biomedical Sciences, Taipei 115, Taiwan (Republic of China) (Shen) China Medical University, School of Public Health, Taichung 40402, Taiwan (Republic of China) (Shu, Zheng) Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN 37232, United States (Siesling) Netherlands Comprehensive Cancer Organisation (IKNL), Department of Research, Utrecht 3511 DT, Netherlands (Siesling) University of Twente, Department of Health Technology and Service Research, Technical Medical Center, Enschede 7522 NB, Netherlands (Sohn) University Hospital and German Cancer Research Center, National Center for Tumor Diseases, Heidelberg 69120, Germany (Southey) The University of Melbourne, Department of Clinical Pathology, Melbourne, VIC 3010, Australia (Spinelli) BC Cancer, Population Oncology, Vancouver BC V5Z 1G1, Canada (Spinelli) University of British Columbia, School of Population and Public Health, Vancouver BC V6T 1Z4, Canada (Stone) Curtin University and University of Western Australia, The Curtin UWA Centre for Genetic Origins of Health and Disease, Perth, WA 6000, Australia (Tengstrom) Kuopio University Hospital, Department of Oncology, Cancer Center, Kuopio 70210, Finland (Tengstrom) University of Eastern Finland, Institute of Clinical Medicine, Oncology, Kuopio 70210, Finland (Teo) Cancer Research Malaysia, Breast Cancer Research Programme, Subang Jaya, Selangor 47500, Malaysia (Teo) University of Malaya, Department of Surgery, Faculty of Medicine, Kuala Lumpur 50603, Malaysia (Terry) Columbia University, Department of Epidemiology, Mailman School of Public Health, New York, NY 10032, United States (Tollenaar) Leiden University Medical Center, Department of Surgery, Leiden 2333 ZA, Netherlands (Tomlinson) University of Birmingham, Institute of Cancer and Genomic Sciences, Birmingham B15 2TT, United Kingdom (Tomlinson) University of Oxford, Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN, United Kingdom (Vachon) Mayo Clinic, Department of Health Science Research, Division of Epidemiology, Rochester, MN 55905, United States (van Ongeval) Leuven Cancer Institute, University Hospitals Leuven, Leuven Multidisciplinary Breast Center, Department of Radiology, Leuven 3000, Belgium (Wolk) Uppsala University, Department of Surgical Sciences, Uppsala 751 05, Sweden (Schmidt) The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Division of Psychosocial Research and Epidemiology, Amsterdam 1066 CX, Netherlands | Issue Date: | 19-Nov-2020 | Copyright year: | 2020 | Publisher: | Cell Press | Place of publication: | United States | Publication information: | American Journal of Human Genetics. 107 (5) (pp 837-848), 2020. Date of Publication: 05 Nov 2020. | Journal: | American Journal of Human Genetics | Abstract: | Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.Copyright © 2020 American Society of Human Genetics | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.ajhg.2020.09.001 | ISSN: | 0002-9297 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/26711 | Type: | Article | Type of Clinical Study or Trial: | Observational study (cohort, case-control, cross sectional or survey) |
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