Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Soukaina Guaoua Ilham Ratbi Jaber Lyahyai Siham Chafai El Alaoui Fatima-Zahra Laarabi Abdelaziz Sefiani

Affiliation:	1. Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco;2. Département de génétique médicale, Institut National d''Hygiène, Rabat, Morocco

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.

Keywords:	male breast cancer BRCA2 gene mutation genetic counseling