title: 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.
authors.affiliation: 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.
authors.forename: Soukaina
authors.initials: S
authors.lastname: Guaoua
authors.affiliation: Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.affiliation: Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
authors.forename: Siham Chafai
authors.initials: SC
authors.lastname: El Alaoui
authors.affiliation: Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
authors.forename: Fatima-Zahra
authors.initials: FZ
authors.lastname: Laarabi
authors.affiliation: 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.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000097:blood / Q000235:genetics; D018567:Breast Neoplasms, Male / Q000235:genetics* / Q000628:therapy; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009018:Morocco; D016896:Treatment Outcome
chemical_list: D018389:Codon, Nonsense
keywords: BRCA2 gene; breast cancer; genetic counseling; male; mutation