Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.
Cancer Lett
; 302(2): 113-8, 2011 Mar 28.
Article
em En
| MEDLINE
| ID: mdl-21236561
ABSTRACT
A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Deleção de Sequência
/
Predisposição Genética para Doença
/
Anemia de Fanconi
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Female
/
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Cancer Lett
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Finlândia