Selma MOHAMED BRAHIM
Centre National d’Oncologie, Mauritania
Title: BRCA1/2 mutation in a cohort of young women Breast cancer in Mauritania
Biography
Biography: Selma MOHAMED BRAHIM
Abstract
Breast cancer (BC) is the leading cause of death in African women. The aim of this cross –sectional study was to assess the incidence, clinico-pathological characteristics, risk factors and outcome of breast cancer in Mauritania. BC of women under the age of 40 is a complex disease because more than 90% of young patients with BC are symptomatic. Data on BC in young women breast cancer is limited and the cancer characteristics mutation BRCA1/A2 genes are less well studied.
This study was aimed to provide the first data on young women in BC the incidence, clinico-pathological characteristics, risk factors and related gene mutations in Mauritania.
Materials and methods Thirty-three percent young women were referred to the Centre National d’Oncologie (CNO) in Mauritania between January 2009 and December 2020.we evaluated clinical characteristic, treatment selection and screening mutation BRCA1/A2 genes.
Results The Thirty-three percent young women with BC recruited in this study were aged between 21 and 39 years. Infiltrating ductal carcinoma was the predominant histological type in 90% of cases. Multimodal treatment was based on mastectomy followed by adjuvant therapy including chemotherapy, radiation therapy and/or hormonal therapy, depending on tumor stage and its histological features. Metastases mainly occurred in the bones (59%).
We identified five predominant BRCA1/2 variants: (c.815_824insAGCTATGTGG,c.2612C>T,c.813_814insTAGCCATGTG, c.201-18del) and (c.4986+6T>C). We also found one BRCA2 missense variants (c.10247A>G). Interestingly, we identified two novel BRCA DNA variants in of which 1 were predicted as pathogenic
Conclusion Further research is needed to address gaps in knowledge pertaining to care of young women breast cancer patients and survivors.