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African health sciences · Jun 2014
Case ReportsNovel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
- Soukaina Guaoua, Ilham Ratbi, Jaber Lyahyai, Siham Chafai El Alaoui, Fatima-Zahra Laarabi, and Abdelaziz Sefiani.
- Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco ; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
- Afr Health Sci. 2014 Jun 1; 14 (2): 468-71.
BackgroundBreast 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.ObjectiveMolecular study of BRCA2 gene in man with familial breast cancer.MethodsPCR and direct sequencing of BRCA2 gene.ResultsIdentification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.
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