Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer

Amina Barakat¹  Naima Ghailani Nourouti¹  Mohcine Bennani Mechita¹  Mohamed Mansouri¹  Joaira Bakkach¹  Touria Derkaoui¹  ElMostafa El Fahime²  Carlos Cortijo Bringas³  Jaime Martinez De Villarreal³  Ali Loudiyi⁴ 

[1] Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi;Functional Genomic Plateform, Units of Technical Support to Scientific Research, National Center of Scientific and Technical Research;Genetracer Biotech Laboratory;Oncology Clinic Al AMAL of Tangier;

关键词: Breast cancer;    Young women;    BRCA1;    BRCA2;    Germline mutations;    Genetic testing;   

DOI  :  10.1186/s12885-020-07352-9

来源: DOAJ

【 摘 要 】

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

【 授权许可】

Unknown