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

De Talhouet, Solene; Peron, Julien; Vuilleumier, Aurélie; Friedlaender, Alex; Viassolo, Valeria; Ayme, Aurélie; Bodmer, Alexandre; Treilleux, Isabelle; Lang, Noémie; Tille, Jean-Christophe; Chappuis, Pierre; Buisson, Adrien; Giraud, Sophie; Lasset, Christine; Bonadona, Valerie; Trédan, Olivier; Labidi-Galy, Sana Intidhar

doi:10.1038/s41598-020-63759-1

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Title		Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes
Authors		De Talhouet, Solene Peron, Julien Vuilleumier, Aurélie Friedlaender, Alex Viassolo, Valeria Ayme, Aurélie Bodmer, Alexandre Treilleux, Isabelle Lang, Noémie Tille, Jean-Christophe Chappuis, Pierre Buisson, Adrien Giraud, Sophie Lasset, Christine Bonadona, Valerie Trédan, Olivier Labidi-Galy, Sana Intidhar show all authors [1 - 17]
Published in		Scientific Reports. 2020, vol. 10, no. 1, p. 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		Adult — BRCA1 Protein/genetics — BRCA2 Protein/genetics — Chemotherapy — Adjuvant — Disease-Free Survival — Female — Germ-Line Mutation — Humans — Middle Aged — Neoadjuvant Therapy — Survival Rate — Triple Negative Breast Neoplasms/genetics/mortality/therapy
Identifiers		DOI: 10.1038/s41598-020-63759-1 PMID: 32341426
Full text		Article (Published version) (1.6 MB) - Free access Supplemental data (238 Kb) - Free access
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine Faculté de médecine / Section de médecine fondamentale / Département de pathologie et immunologie
Research group		Métastases du foie (657)
Citation (ISO format)		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