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 |
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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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