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Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes

De Talhouet, Solene
Peron, Julien
Treilleux, Isabelle
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Published in Scientific reports. 2020, vol. 10, no. 1, 7073
Abstract BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the prognostic value of BRCA germline mutations in breast cancer (BC) patients. We collected clinical, pathological and genetic data of a cohort 925 BC patients preselected for genetic screening and treated with neoadjuvant or adjuvant chemotherapy, of whom 266 were BRCA carriers. Overall, 171 women carried a BRCA1 mutation, 95 carried a BRCA2 mutation, and 659 were non-carriers. In the entire cohort, there was a prolonged disease-free survival (DFS) for BRCA carriers (hazard ratio (HR) = 0.63; 95% confidence interval (CI), 0.44-0.90 for BRCA1; HR = 0.72; 95%CI, 0.47-1.1 for BRCA2; p = 0.020) and a trend toward prolonged disease-specific survival (DSS; HR = 0.65; 95%CI, 0.40-1.1 for BRCA1; HR = 0.78; 95%CI, 0.44-1.38 for BRCA2; p = 0.19) though not statistically significant. In the TNBC group, BRCA carriers had prolonged DFS (adjusted HR = 0.50; 95%CI, 0.28-0.89 for BRCA1; adjusted HR = 0.37; 95%CI, 0.11-1.25, for BRCA2; p = 0.034) and DSS (adjusted HR = 0.42; 95%CI, 0.21-0.82 for BRCA1; adjusted HR = 0.45; 95%CI, 0.11-1.9 for BRCA2; p = 0.023). In the non-TNBC group, the BRCA1 or BRCA2 mutations did not have any impact on survival. These results suggest that BRCA1/BRCA2 germline mutations are associated with prolonged survival only if women were diagnosed with TNBC.
Keywords AdultBRCA1 Protein/geneticsBRCA2 Protein/geneticsChemotherapyAdjuvantDisease-Free SurvivalFemaleGerm-Line MutationHumansMiddle AgedNeoadjuvant TherapySurvival RateTriple Negative Breast Neoplasms/genetics/mortality/therapy
PMID: 32341426
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Research group Métastases du foie (657)
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DE TALHOUET, Solene et al. Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. In: Scientific Reports, 2020, vol. 10, n° 1, p. 7073. doi: 10.1038/s41598-020-63759-1 https://archive-ouverte.unige.ch/unige:146862

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Deposited on : 2020-12-22

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