RESUMO

BACKGROUND: Mutations in BRCA genes are associated with an elevated incidence of colorectal cancer (CRC). While 20% of CRC patients have a familial history of colonic malignancies, in only 5% is the genetic setting understood. Thus, a majority of these patients lack any known genetic marker. Our aim was to explore the relevance of BRCA mutations to serve as such markers in the genetic screening and counseling of CRC patients. PATIENTS AND METHODS: 136 consecutive Israeli Jewish patients with sporadic CRC were screened for BRCA "Ashkenazi mutations": 185delAG, 5382insC and 6174delT. Carrier status was evaluated employing PCR, restriction analysis, SSCP and a Pronto BRCA kit. RESULTS: We found one 185delAG and two 6174delT carriers, altogether three Ashkenazi carriers out of 87 Ashkenazi patients tested, 3.5%. No carriers were found among the Arabs and non-Ashkenazi Jews surveyed. CONCLUSIONS: Our preliminary results show elevated rates of BRCA "Ashkenazi mutations" in Ashkenazi CRC patients, suggesting their involvement in CRC carcinogenesis. An implementation of a wider study will establish the role of these mutations as genetic markers for CRC.

Assuntos

Neoplasias Colorretais/genética , Genes BRCA1 , Judeus/genética , Mutação , Proteínas de Neoplasias/genética , Fatores de Transcrição/genética , Árabes/genética , Proteína BRCA2 , Neoplasias Colorretais/sangue , Neoplasias Colorretais/etnologia , DNA/sangue , DNA/genética , Análise Mutacional de DNA , Europa Oriental/etnologia , Feminino , Frequência do Gene , Marcadores Genéticos , Predisposição Genética para Doença , Genótipo , Humanos , Israel/epidemiologia , Judeus/classificação , Masculino , Mutagênese Insercional , Mutação Puntual , Países Escandinavos e Nórdicos/etnologia , Deleção de Sequência , América do Sul/etnologia

Assuntos

Ataxia Telangiectasia/diagnóstico , Diagnóstico Pré-Natal , Adulto , Líquido Amniótico/análise , Líquido Amniótico/citologia , Ataxia Telangiectasia/genética , Cromossomos Humanos 13-15 , Feminino , Humanos , Mutagênicos/análise , Gravidez , Translocação Genética