Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

ABSTRACT:

Background and study aim

Carrying a pathogenic BRCA1/2 variant increases greatly young women's risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania.

Methods

Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.

Results

We identified 16 pathogenic or likely pathogenic (PV) variants carried by 38 patients. Two predominant BRCA1 PV variants were found: c.815_824dup and c.4986 + 6 T > C in 13 and 7 patients, respectively. Interestingly, three novels BRCA1/2 predicted pathogenic variants have also been detected. Notably, no specific distribution of BRCA1/2 variants was observed regarding triple negative breast cancer (TNBC) or patient gender status.<

SUBMITTER: Brahim SM 

PROVIDER: S-EPMC9301826 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature