Work

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

Year: 2014

Type: article

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.

Source: African Health Sciences

DOI: 10.4314/ahs.v14i2.25

Authors: S Guaoua, I Ratbi, J Lyahyai, SC El Alaoui, F Laarabi, A Sefiani

Institutions: Mohammed V University, Institut National d'Hygiène du Maroc

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W1978683051

FWCI: 0.843

Cites: 19

Cited by: 12

Related to: 10