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