Rapid detection of BRCA1 mutations by the protein truncation test.
Nat Genet
; 10(2): 208-12, 1995 Jun.
Article
em En
| MEDLINE
| ID: mdl-7663517
ABSTRACT
More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PTT) to screen for mutations in exon 11, which encodes 61% of BRCA1. In 45 patients from breast and/or ovarian cancer families we found six novel mutations two single nucleotide insertions, three small deletions (1-5 bp) and a nonsense mutation identified two unrelated families. Furthermore, we were able to amplify the remaining coding region by RT-PCR using lymphocyte RNA. Combined with PTT, we detected aberrantly spliced products affecting exons 5 and 6 in one of two BRCA1-linked families examined. The protein truncation test promises to become a valuable technique in detecting BRCA1 mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Fatores de Transcrição
/
Neoplasias da Mama
/
Mutação
/
Proteínas de Neoplasias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article