Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families.
Nat Genet
; 8(4): 392-8, 1994 Dec.
Article
em En
| MEDLINE
| ID: mdl-7894492
ABSTRACT
Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of ovarian cancer. We have identified BRCA1 mutations in 12 of 30 (40%) Canadian families with breast and/or ovarian cancer, including six of the eight families (75%) that contained two cases of early-onset breast cancer and two cases of ovarian cancer. Six frameshift mutations account for all 12 mutant alleles, including nucleotide insertions (two mutations) and deletions (four mutations). Four independent families carried the same 1 basepair (bp) insertion mutation in codon 1755 and four other families shared a 2 bp deletion mutation in codons 22-23. These families were not known to be related, but haplotype analysis suggests that the carriers of each of these mutations have common ancestors.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Fatores de Transcrição
/
Neoplasias da Mama
/
Mutação da Fase de Leitura
/
Proteínas de Neoplasias
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Canadá