BRCA1 mutations in Brazilian patients
Genet. mol. biol
;
27(4): 500-504, Dec. 2004. tab
Artigo
em Inglês
| LILACS
| ID: lil-391220
ABSTRACT
BRCA1 mutations are known to be responsible for the majority of hereditary breast and ovarian cancers in women with early onset and a family history of the disease. In this paper we present a mutational survey conducted in 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male patients. All 22 coding exons and intron-exon junctions were sequenced. Constitutional mutations were found in seven families, consisting of one insertion (insC5382) in exon 20 (four patients), one four base-pair deletion (3450-3453delCAAG) in exon 11 resulting in a premature stop codon (one patient), one transition (IVS17+2T> C) in intron 17 affecting a mRNA splicing site (one patient), and a C> T transition resulting in a stop-codon (Q1135X) in exon 11 (one patient). The identification of these mutations which are associated to hereditary breast and ovarian cancers will contribute to the characterization of the mutational spectrum of BRCA1 and to the improvement of genetic counseling for familial breast/ovarian cancer patients in Brazil.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Neoplasias Ovarianas
/
Neoplasias da Mama
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Instituto Nacional de Câncer/BR
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