ABSTRACT
Breast cancer is the leading cause of cancer deaths in Algerian women. Our aim is to analyze BRCA1 and BRCA2 genes mutations in 100 Algerian patients with a family history suggestive of genetic predisposition to breast cancer. BRCA1 and BRCA2 mutations were searched by High-Resolution Melting (HRM) analysis, followed by direct sequencing, and Multiplex Ligation- Dependent Probe Amplification (MLPA) for large deletions or duplications. An unclassified variant c.5117G>C, p.Gly1706ALA and a pathogenic mutation c.2125_2126insA, p.Phe709TyrfX3 were detected in the BRCA1 gene. No large deletions or duplications were detected with MLPA. One deleterious mutation c.250C>T, p.Gin84X, and one unclassified variant c.9364G>A, p. Ala3122Thr were identified in BRCA2 gene. The pathological significance of this variant has to be specified and analysis of its segregation in the family and differs from those provided in the literature. Although on a limited cohort, our findings suggest a higher frequency of BRCA1/2 mutations in Algeria and it would be of interest to search for the presence of these pathogenic mutations in other family member for preventing the risk of cancer.
