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