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
Inge M. M. Lakeman, Alexandra J. van den Broek, Julien A M Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis, Aðalgeir Arason, Norbert Arnold, Banu Arun, Judith Balmañà, Daniel Barrowdale, Javier Benı́tez, Åke Borg, Trinidad Caldés, Maria A. Caligo, Wendy K. Chung, Kathleen Claes, Emmanuelle Barouk-Simonet, Muriel Belotti, Pascaline Berthet, Yves‐Jean Bignon, Valérie Bonadona, Brigitte Bressac–de Paillerets, Bruno Buecher, Sandrine M. Caputo, Olivier Caron, Laurent Castera, Virginie Caux‐Moncoutier, Chrystelle Colas, Marie‐Agnès Collonge‐Rame, Isabelle Coupier, Antoine De Pauw, Capucine Delnatte, Camille Elan, Laurence Faivre, Sandra Fert Ferrer, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Lisa Golmard, Claude Houdayer, Christine Lasset, Maïté Laurent, Dominique Leroux, Michel Longy, Véronique Mari, Sylvie Mazoyer, Noura Mebirouk, Isabelle Mortemousque, Fabienne Prieur, Pascal Pujol, Claire Saule, Helene Schuster, Nicolas Sévenet, Hagay Sobol, Johanna Sokolowska, Laurence Venat‐Bouvet, Munaza Ahmed, Julian Barwell, Angela Brady, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Alison M. Dunning, Jacqueline Eason, Diana M. Eccles, Helen Gregory, Helen Hanson, Patricia A. Harrington, Alex Henderson, Shirley Hodgson, Michael J. Kennedy, Fiona Lalloo, Clare Miller, Patrick J. Morrison, Kai‐Ren Ong, Aoife O’Shaughnessy-Kirwan, Jo Perkins, Mary Porteous, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, J. Margriet Collée, Fergus J. Couch, Mary B. Daly, Joe Dennis, Mallika Dhawan, Susan M. Domchek, Ros Eeles, Christoph Engel, D. Gareth Evans, Lídia Feliubadaló, Lenka Foretová, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy Garber
Abstract
PURPOSE: ) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: and CBC risk. RESULTS: 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.