Analysis of novel mutations in BRCA1 in Iranian families with breast cancer.
Hereditas
; 151(2-3): 38-42, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-25041116
ABSTRACT
In Iran and the rest of the world, breast cancer (BC) is the most common malignancy in women. Familial history and age are significant risk factors for the development of this disease in Iran. Most hereditary BCs are associated with inherited mutations in the BRCA1 and BRCA2 genes. Some recent studies demonstrated that BRCA1 mutations are seen in high-risk women with family histories of BC. In this report we investigated all BRCA1 exons from 40 female patients with family histories of BC and one BC twin, and report a novel mutation in this gene in one patient. As controls, BRCA1 exons from 100 normal women and the BC-free twin of the BC twin were also examined for this mutation. None of the women in the normal group harbored the mutation. Whether this variation is specific for the Iranian population or for special subgroups remains to be determined.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Mutação em Linhagem Germinativa
/
Proteína BRCA1
/
Predisposição Genética para Doença
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Hereditas
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Irã