PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC). PREDICT f...

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Autores: Muranen, Taru A.; Morra, Anna; Khan, Sofia; Barnes, Daniel R.; Bolla, Manjeet K.; Dennis, Joe; Keeman, Renske; Leslie, Goska; Parsons, Michael T.; Wang, Qin; Ahearn, Thomas U.; Aittomäki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Behrens, Sabine; Bialkowska, Katarzyna; Bojesen, Stig E.; Camp, Nicola J.; Chang Claude, Jenny; Czene, Kamila; Devilee, Peter; Domchek, Susan M.; Dunning, Alison M.; Engel, Christoph; Evans, D. Gareth; Gago Dominguez, Manuela; García Closas, Montserrat; Gerdes, Anne Marie; Glendon, Gord; Guénel, Pascal; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hooning, Maartje J.; Hoppe, Reiner; Izatt, Louise; Jakubowska, Anna; James, Paul A.; Kristensen, Vessela N.; Lalloo, Fiona; Lindeman, Geoffrey J.; Mannermaa, Arto; Margolin, Sara; Neuhausen, Susan L.; Newman, William G.; Peterlongo, Paolo; Phillips, Kelly Anne; Pujana Genestar, M. Ángel; Rantala, Johanna; Rønlund, Karina; Saloustros, Emmanouil; Schmutzler, Rita Katharina; Schneeweiss, Andreas; Singer, Christian F.; Suvanto, Maija; Yen Tan, Yen; Teixeira, Manuel R.; Thomassen, Mads; Tischkowitz, Marc; Tripathi, Vishakha; Wappenschmidt, Barbara; Zhao, Emily; Easton, Douglas F.; Antoniou, Antonis C.; Chenevix Trench, Georgia; Pharoah, Paul D. P.; Schmidt, Marjanka K.; Blomqvist, Carl; Nevanlinna, Heli
Tipo de documento: Artigo
Data de publicação:2023
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositório:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/224348
Acesso em linha:https://hdl.handle.net/2445/224348
Nível de acesso:Acesso aberto
Palavra-chave:Càncer de mama
Pronòstic mèdic
Breast cancer
Prognosis
Resumo:We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC). PREDICT for estrogen receptor (ER)-negative breast cancer had modest discrimination for BRCA1 carrier patients overall (Gonen & Heller unbiased concordance 0.65 in CIMBA, 0.64 in BCAC), but it distinguished clearly the high-mortality group from lower risk categories. In an analysis of low to high risk categories by PREDICT score percentiles, the observed mortality was consistently lower than the expected mortality, but the confidence intervals always included the calibration slope. Altogether, our results encourage the use of the PREDICT ER-negative model in management of breast cancer patients with germline BRCA1 variants. For the PREDICT ER-positive model, the discrimination was slightly lower in BRCA2 variant carriers (concordance 0.60 in CIMBA, 0.65 in BCAC). Especially, inclusion of the tumor grade distorted the prognostic estimates. The breast cancer mortality of BRCA2 carriers was underestimated at the low end of the PREDICT score distribution, whereas at the high end, the mortality was overestimated. These data suggest that BRCA2 status should also be taken into consideration with tumor characteristics, when estimating the prognosis of ER-positive breast cancer patients.

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