Análisis genético en pacientes con cáncer colorrectal / Microsatellite instability among patients with colorectal cancer
Rev. méd. Chile
; 134(10): 1221-1229, oct. 2006. ilus, tab
Article
en Es
| LILACS
| ID: lil-439911
Biblioteca responsable:
BR1.1
ABSTRACT
Background:
In patients with colorectal carcinoma, insertions or deletions of short sequences of DNA, a phenomenon called microsatellite instability, are observed.Aim:
To look for microsatellite instability and mutations of MLH1 and MSH2 gene mutations in patients with colorectal carcinoma. Material andMethods:
Ten patients with sporadic colorectal carcinoma and 31 patients fulfilling criteria for hereditary nonpolyposis colon cancer (HNPCC), aged 9 to 70 years, were studied. Microsatellite instability was studied in samples of tumor and peripheral blood mononuclear cell DNA. Six markers were amplified by polymerase chain reaction and capillary electrophoresis. In samples with microsatellite instability, mutations of MLH1 and MSH2 genes were studied by direct sequencing.Results:
Thirty four percent of patients had microsatellite instability and among these, 76 percent had a high degree of instability. BAT40 marker had the higher frequency of instability. No mutations for MLH1 and MSH2 genes were observed. However a new polymorphism, C399T, was identified in exon 3 of MSH2 gene. This polymorphism was observed both in patients with sporadic colorectal carcinoma and patients with HNPCC.Conclusions:
There is a high frequency of microsatellite instability among patients with colorectal cancer. A new polymorphism, not previously reported, was identified in MSH2 gene.
Texto completo:
1
Índice:
LILACS
Asunto principal:
Polimorfismo Genético
/
Proteínas Nucleares
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Carcinoma
/
Neoplasias Colorrectales
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Proteínas Adaptadoras Transductoras de Señales
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Inestabilidad de Microsatélites
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Aged
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Child
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Humans
Idioma:
Es
Revista:
Rev. méd. Chile
Asunto de la revista:
MEDICINA
Año:
2006
Tipo del documento:
Article
/
Project document