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Cancer Res ; 63(1): 154-8, 2003 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-12517792

RESUMEN

Mutations in the currently known mismatch repair genes cannot explain all cases of hereditary nonpolyposis colorectal cancer (HNPCC), and novel predisposing genes are actively sought. Recently, mutations in the DNA repair gene EXO1 have been implicated in HNPCC. One truncating and several missense changes were observed in familial colorectal cancer (CRC) cases but not in controls. We evaluated a series of European CRC patients and population controls to clarify whether EXO1 variants may indeed predispose to familial CRC. Several variants observed in patients were also observed in controls with similar frequencies, including the truncating variant proposed previously to be a disease-causing mutation. Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene.


Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales/genética , Exodesoxirribonucleasas/genética , Variación Genética , Secuencia de Aminoácidos , Enzimas Reparadoras del ADN , Familia , Humanos , Datos de Secuencia Molecular , Polimorfismo Conformacional Retorcido-Simple , Valores de Referencia , Mapeo Restrictivo , Alineación de Secuencia , Homología de Secuencia de Aminoácido
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