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

Autor: Sophie Giraud, Noemie Lang, Solene De Talhouet, Adrien Buisson, Valeria Viassolo, S. Intidhar Labidi-Galy, Valérie Bonadona, Alexandre Bodmer, Aurélie Ayme, Alex Friedlaender, Jean-Christophe Tille, Aurelie Vuilleumier, Christine Lasset, Pierre O. Chappuis, Olivier Tredan, Isabelle Treilleux, Julien Péron
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
endocrine system diseases
Adjuvant chemotherapy
lcsh:Medicine
Triple Negative Breast Neoplasms
ddc:616.07
Triple Negative Breast Neoplasms/genetics/mortality/therapy
Prognostic markers
Breast cancer
0302 clinical medicine
skin and connective tissue diseases
lcsh:Science
Cancer genetics
Adjuvant
ddc:616
Multidisciplinary
BRCA1 Protein
Hazard ratio
Middle Aged
BRCA2 Protein/genetics
Publisher Correction
Neoadjuvant Therapy
Survival Rate
Chemotherapy
Adjuvant
030220 oncology & carcinogenesis
Cohort
Female
Adult
medicine.medical_specialty
Disease-Free Survival
Article
03 medical and health sciences
Germline mutation
Internal medicine
medicine
Chemotherapy
Humans
Pathological
Germ-Line Mutation
BRCA2 Protein
business.industry
lcsh:R
Genetic data
medicine.disease
Confidence interval
030104 developmental biology
BRCA1 Protein/genetics
lcsh:Q
business
Zdroj: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Scientific Reports, Vol. 10, No 1 (2020) P. 7073
ISSN: 2045-2322
Popis: 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.
Databáze: OpenAIRE
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