Background: Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations.
Objective: Molecular study of BRCA2 gene in man with familial breast cancer.
Methods: PCR and direct sequencing of BRCA2 gene.
Results: Identification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.
Keywords: BRCA2 gene; breast cancer; genetic counseling; male; mutation.