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

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 fir...

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Detalles Bibliográficos
Autores: 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, 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., Heemskerk Gerritsen, Bernadette A. M., Van der Kolk, Lizet E., 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, Van der Luijt, Rob B., Jensen, Uffe Birk, Schmutzler, Rita Katharina, Bressac de Paillerets, Brigitte, Kets, Carolien M., Buecher, Bruno, Caputo, Sandrine M., Ausems, Margreet G. E. M., Gregory, Helen, Dennis, Joe, Caron, Olivier, Thull, Darcy L., Faivre, Laurence, Mcguffog, Lesley, Fert Ferrer, Sandra, Gauthier Villars, Marion, Mensenkamp, Arjen R., Radice, Paolo, Gesta, Paul, Leroux, Dominique, Longy, Michel, Mari, Véronique, Van Deurzen, Carolien H. M., Teo, Soo Hwang, Mazoyer, Sylvie, Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Mooij, Thea M., Sokolowska, Johanna, Chung, Wendy K., 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, Sharma, Priyanka, Hogervorst, Frans B. L., Oosterwijk, Jan C., Brennan, Paul, Coupier, Isabelle, Harrington, Patricia A., Wappenschmidt, Barbara, Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Åke, Van Doorn, Helena C., 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, Golmard, Lisa, 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, Bignon, Yves Jean, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Barouk Simonet, Emmanuelle, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Elan, Camille, Eason, Jacqueline, Hulick, Peter J., Giraud, Sophie, Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Montagna, Marco, Mulligan, Anna Marie, Hollestelle, Antoinette, Mebirouk, Noura, 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., 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., Mortemousque, Isabelle, Hanson, Helen, Hake, Christopher R., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Offit, Kenneth, Holland, Helene, Blok, Marinus J., Jiao, Yue, Walker, Lisa, John, Esther M., Joseph, Vijai, Houdayer, Claude, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Prieur, Fabienne, 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, Dunning, Alison M., Pauw, Antoine de, Olah, Edith, Collée, J. Margriet, Hooning, Maartje J., Morrison, Patrick J., Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Hamann, Ute, Belotti, Muriel, Laurent, Maïté, Peterlongo, Paolo, Jakubowska, Anna, Stadler, Zsofia K., Kriege, Mieke, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Pujol, Pascal, 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, Konstantopoulou, Irene, Rookus, Matti A.
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/178786
Acceso en línea:https://hdl.handle.net/2445/178786
Access Level:acceso abierto
Palabra clave:Càncer de mama
Factors de risc en les malalties
Breast cancer
Risk factors in diseases
Descripción
Sumario: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.

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