Title: | 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 |
Author: | 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 Mebirouk, Noura Mortemousque, Isabelle Blok, Marinus J. Prieur, Fabienne Dunning, Alison M. Hamann, Ute Pujol, Pascal Konstantopoulou, Irene Heemskerk Gerritsen, Bernadette A. M. Jensen, Uffe Birk Mcguffog, Lesley Isaacs, Claudine Saule, Claire Piedmonte, Marion Schuster, Helene Sevenet, Nicolas Sobol, Hagay Mooij, Thea M. Sokolowska, Johanna Gómez Garcia, Encarna B. Venat Bouvet, Laurence Miller, Austin Singer, Christian F. Claes, Kathleen B. M. Ahmed, Munaza Teixeira, Manuel R. Barwell, Julian Brady, Angela Izatt, Louise Hogervorst, Frans B. L. Oosterwijk, Jan C. Brennan, Paul Coupier, Isabelle Harrington, Patricia A. Wappenschmidt, Barbara Henderson, Alex Hodgson, Shirley Kwong, Ava Borg, Åke Kennedy, M. John Porteous, Mary E. Rogers, Mark T. Side, Lucy E. Gomes, Denise Molina Caux Moncoutier, Virginie Snape, Katie Rantala, Johanna Dhawan, Mallika Benitez, Javier Domchek, Susan M. Eeles, Rosalind A. Engel, Christoph Legrand, Clémentine Evans, D. Gareth Risch, Harvey A. James, Paul A. Feliubadaló i Elorza, Maria Lídia Devilee, Peter Berthet, Pascaline Teulé-Vega, Àlex Foretova, Lenka Castera, Laurent Friedman, Eitan Frost, Debra Rennert, Gad Barouk Simonet, Emmanuelle Ganz, Patricia A. Leslie, Goska Garber, Judy Eason, Jacqueline Hulick, Peter J. Giraud, Sophie Imyanitov, Evgeny N. Glendon, Gord Thomassen, Mads Janavicius, Ramunas Montagna, Marco Mulligan, Anna Marie Hollestelle, Antoinette Jager, Agnes Koppert, Linetta B. Van Asperen, Christi J. Cook, Jackie Koudijs, Marco Caldés, Trinidad Van den Ouweland, Ans M. W. Van der Baan, Frederieke H. Miller, Clare Van der Hout, Annemieke H. Van der Kolk, Lizet E. Van der Luijt, Rob B. Thull, Darcy L. Van Deurzen, Carolien H. M. Chung, Wendy K. Sharma, Priyanka Van Doorn, Helena C. Golmard, Lisa Bignon, Yves Jean Elan, Camille Colas, Chrystelle Van Engelen, Klaartje Brewer, Carole Van Hest, Liselotte P. Van Os, Theo A. M. Caligo, Maria A. Bernstein, Jonine L. Verhoef, Senno Tischkowitz, Marc Vogel, Maartje J. Hanson, Helen Hake, Christopher R. Wijnen, Juul T. Lalloo, Fiona Beesley, Jonathan Fox, Stephen Collonge Rame, Marie Agnès Simard, Jacques Offit, Kenneth Holland, Helene Jiao, Yue Walker, Lisa John, Esther M. Joseph, Vijai Houdayer, Claude Gerdes, Anne Marie Karlan, Beth Y. Lesueur, Fabienne Loud, Jennifer T. Lubiński, Jan Aalfs, Cora M. Manoukian, Siranoush Davidson, Rosemarie Mouret Fourme, Emmanuelle Gayther, Simon A. Nathanson, Katherine L. Neuhausen, Susan L. Nevanlinna, Heli Lasset, Christine Yie, Joanne Ngeow Yuen Pauw, Antoine de Olah, Edith Collée, J. Margriet Hooning, Maartje J. Morrison, Patrick J. Olopade, Olufunmilayo I. Van Asperen, Christi J. Park, Sue K. Parsons, Michael T. Donaldson, Alan Belotti, Muriel Laurent, Maïté Peterlongo, Paolo Jakubowska, Anna Stadler, Zsofia K. Kriege, Mieke Stoppa Lyonnet, Dominique Sutter, Christian Ong, Kai Ren Delnatte, Capucine Tan, Yen Yen Toland, Amanda E. Tung, Nadine Van Rensburg, Elizabeth J. Couch, Fergus J. Spurdle, Amanda B. Vega, Ana Godwin, Andrew K. Easton, Douglas F. Bonadona, Valérie Rookus, Matti A. Chenevix-Trench, Georgia Antoniou, Antonis C. O’shaughnessy Kirwan, Aoife Robson, Mark Hahnen, Eric Eccles, Diana Schmidt, Marjanka K. Meijers Heijboer, Hanne E. J. Hopper, John L. Adank, Muriel A. Gemo Study Collaborators Phillips, Kelly Anne Embrace Collaborators Ocgn Investigators Goldgar, David E. Daly, Mary B. Hebon Investigators Perkins, Jo Kconfab Investigators Schmutzler, Rita K. Bressac de Paillerets, Brigitte Kets, Carolien M. Buecher, Bruno Caputo, Sandrine M. Ausems, Margreet G. E. M. Gregory, Helen Dennis, Joe Caron, Olivier Faivre, Laurence Fert Ferrer, Sandra Gauthier Villars, Marion Mensenkamp, Arjen R. Radice, Paolo Gesta, Paul Leroux, Dominique Longy, Michel Mari, Véronique Teo, Soo Hwang Mazoyer, Sylvie |
Keywords: | Càncer de mama Factors de risc en les malalties Breast cancer Risk factors in diseases |
Issue Date: | 10-Jun-2021 |
Publisher: | Springer Science and Business Media LLC |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41436-021-01198-7 |
It is part of: | Genetics in Medicine, 2021 |
URI: | http://hdl.handle.net/2445/178786 |
Related resource: | https://doi.org/10.1038/s41436-021-01198-7 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
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