Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

ABSTRACT:

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.

SUBMITTER: Guaoua S 

PROVIDER: S-EPMC4196389 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature