Predicted chemotherapy benefit for breast cancer patients with germline pathogenic variants in cancer susceptibility genes
Menée aux Etats-Unis à partir des données de quatre laboratoires d'analyse et de deux registres des cancers portant sur 714 patientes atteintes d'un cancer du sein diagnostiqué entre 2013 et 2017 et porteuses de variants génétiques pathogènes (BRCA1, BRCA2, CHEK2, ATM, PALB2, MLH1, MSH2, MSH6 ou PMS2), cette étude évalue l'association entre les résultats d'un score de récidive, fourni par un test basé sur l'expression de 21 gènes, et le bénéfice d'une chimiothérapie
Breast cancer patients increasingly undergo genetic testing. To examine chemotherapy indications for germline pathogenic variant (PVs) carriers, we linked results of germline testing to Georgia and California SEER registry records, including 21-gene recurrence score (RS) results, for breast cancer patients diagnosed in 2013-2017. All statistical tests were two-sided. 37,349 patients had RS results, of whom 714 had BRCA1, BRCA2, CHEK2, ATM, PALB2 or Lynch Syndrome (LS: MLH1, MSH2, MSH6, PMS2) PVs. For women aged ≥50 y at breast cancer diagnosis, RS often exceeded the chemotherapy benefit threshold (≥26) with BRCA1 (71.7% versus 14.4% with none, p<.001), PALB2 (37.1%, p=.001), and BRCA2 (44.3%, p<.001) PVs; results were similar for women diagnosed at age <50 y. PVs in BRCA1, but not BRCA2, PALB2, ATM, CHEK2 or LS genes, were associated with elevated RS on multivariable analysis (p<.001). Results may inform RS testing decisions in breast cancer patients with PVs.
JNCI Cancer Spectrum , article en libre accès, 2019