Análisis genético en pacientes con cáncer colorrectal

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. Materia...

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Autores principales:	Montenegro M,Yenny, Ramírez-Castro,José Luis, Isaza J,Luis Fernando, Bedoya B,Gabriel, Muñetón-Peña,Carlos Mario
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	Colorectal neoplasms DNA, satellite Microsatellite repeats
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001000002
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id	oai:scielo:S0034-98872006001000002
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spelling	oai:scielo:S0034-988720060010000022006-12-28Análisis genético en pacientes con cáncer colorrectalMontenegro M,YennyRamírez-Castro,José LuisIsaza J,Luis FernandoBedoya B,GabrielMuñetón-Peña,Carlos Mario Colorectal neoplasms DNA, satellite Microsatellite repeats 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 and Methods: 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% 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 geneinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.10 20062006-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001000002es10.4067/S0034-98872006001000002
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Colorectal neoplasms DNA, satellite Microsatellite repeats
spellingShingle	Colorectal neoplasms DNA, satellite Microsatellite repeats Montenegro M,Yenny Ramírez-Castro,José Luis Isaza J,Luis Fernando Bedoya B,Gabriel Muñetón-Peña,Carlos Mario Análisis genético en pacientes con cáncer colorrectal
description	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 and Methods: 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% 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
author	Montenegro M,Yenny Ramírez-Castro,José Luis Isaza J,Luis Fernando Bedoya B,Gabriel Muñetón-Peña,Carlos Mario
author_facet	Montenegro M,Yenny Ramírez-Castro,José Luis Isaza J,Luis Fernando Bedoya B,Gabriel Muñetón-Peña,Carlos Mario
author_sort	Montenegro M,Yenny
title	Análisis genético en pacientes con cáncer colorrectal
title_short	Análisis genético en pacientes con cáncer colorrectal
title_full	Análisis genético en pacientes con cáncer colorrectal
title_fullStr	Análisis genético en pacientes con cáncer colorrectal
title_full_unstemmed	Análisis genético en pacientes con cáncer colorrectal
title_sort	análisis genético en pacientes con cáncer colorrectal
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001000002
work_keys_str_mv	AT montenegromyenny analisisgeneticoenpacientesconcancercolorrectal AT ramirezcastrojoseluis analisisgeneticoenpacientesconcancercolorrectal AT isazajluisfernando analisisgeneticoenpacientesconcancercolorrectal AT bedoyabgabriel analisisgeneticoenpacientesconcancercolorrectal AT munetonpenacarlosmario analisisgeneticoenpacientesconcancercolorrectal
_version_	1718436285360635904

Análisis genético en pacientes con cáncer colorrectal

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