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Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
Guaoua, Soukaina; Ratbi, Ilham; Lyahyai, Jaber; El Alaoui, Siham Chafai; Laarabi, Fatima-Zahra; Sefiani, Abdelaziz.
Affiliation
  • Guaoua S; 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.
  • Ratbi I; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
  • Lyahyai J; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
  • El Alaoui SC; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
  • Laarabi FZ; Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco.
  • Sefiani A; 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 ; 14(2): 468-71, 2014 Jun.
Article in En | MEDLINE | ID: mdl-25320599
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Breast Neoplasms, Male / Genetic Predisposition to Disease / Genes, BRCA2 Type of study: Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: Africa Language: En Journal: Afr Health Sci Journal subject: MEDICINA / SERVICOS DE SAUDE Year: 2014 Document type: Article Affiliation country: Morocco
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Breast Neoplasms, Male / Genetic Predisposition to Disease / Genes, BRCA2 Type of study: Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: Africa Language: En Journal: Afr Health Sci Journal subject: MEDICINA / SERVICOS DE SAUDE Year: 2014 Document type: Article Affiliation country: Morocco