Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado

Background: In colorectal cancer, BRAF and KRAS mutation are mutually exclusive, but both are independent prognostic factors for the disease. Aim: To determine the frequency of BRAF V600E mutation in colorectal cancer. Material and Methods: A KRAS mutation study was carried out in 100 tissue samples...

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Autores principales:	Roa,Iván, Game,Anakaren, Bizama,Carolina, Schalper,Kurt
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2014
Materias:	Colonic neoplasms Mutation Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21 (ras)
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100009
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spelling	oai:scielo:S0034-988720140001000092014-08-18Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutadoRoa,IvánGame,AnakarenBizama,CarolinaSchalper,Kurt Colonic neoplasms Mutation Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21 (ras) Background: In colorectal cancer, BRAF and KRAS mutation are mutually exclusive, but both are independent prognostic factors for the disease. Aim: To determine the frequency of BRAF V600E mutation in colorectal cancer. Material and Methods: A KRAS mutation study was carried out in 100 tissue samples of primary and metastatic adenocarcinomas of colon and rectum from patients aged 61.1 ± 62 years (56 women). Negative KRAS mutation cases underwent study of BRAF V600E mutation by restriction fragment length polymorphism (RFLP) and direct sequencing. Results: Primary tumors were located in the colon and rectum in 88 and six cases respectively. Five were liver metastases and in one case, the sample location was undetermined. Forty two samples were KRAS positive (mutated). In 12 of the 58 KRAS negative (wild type) samples, the V600E mutation in codon 15 of the BRAF gene was demonstrated. No differences in the frequency and distribution of mutations, stratified by gender, age, primary tumor versus metastasis, or tumor location were observed. Conclusions: Twelve percent of KRAS negative colorectal cancer samples showed BRAF gene mutation. Considering that 42% of samples have a KRAS mutation, 54% of patients should not respond to therapies with monoclonal antibodies directed against epidermic growth factor (EGFR) pathway.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.142 n.1 20142014-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100009es10.4067/S0034-98872014000100009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Colonic neoplasms Mutation Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21 (ras)
spellingShingle	Colonic neoplasms Mutation Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21 (ras) Roa,Iván Game,Anakaren Bizama,Carolina Schalper,Kurt Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
description	Background: In colorectal cancer, BRAF and KRAS mutation are mutually exclusive, but both are independent prognostic factors for the disease. Aim: To determine the frequency of BRAF V600E mutation in colorectal cancer. Material and Methods: A KRAS mutation study was carried out in 100 tissue samples of primary and metastatic adenocarcinomas of colon and rectum from patients aged 61.1 ± 62 years (56 women). Negative KRAS mutation cases underwent study of BRAF V600E mutation by restriction fragment length polymorphism (RFLP) and direct sequencing. Results: Primary tumors were located in the colon and rectum in 88 and six cases respectively. Five were liver metastases and in one case, the sample location was undetermined. Forty two samples were KRAS positive (mutated). In 12 of the 58 KRAS negative (wild type) samples, the V600E mutation in codon 15 of the BRAF gene was demonstrated. No differences in the frequency and distribution of mutations, stratified by gender, age, primary tumor versus metastasis, or tumor location were observed. Conclusions: Twelve percent of KRAS negative colorectal cancer samples showed BRAF gene mutation. Considering that 42% of samples have a KRAS mutation, 54% of patients should not respond to therapies with monoclonal antibodies directed against epidermic growth factor (EGFR) pathway.
author	Roa,Iván Game,Anakaren Bizama,Carolina Schalper,Kurt
author_facet	Roa,Iván Game,Anakaren Bizama,Carolina Schalper,Kurt
author_sort	Roa,Iván
title	Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
title_short	Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
title_full	Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
title_fullStr	Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
title_full_unstemmed	Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado
title_sort	mutación del gen braf en pacientes con cánceres de colon y recto con kras no mutado
publisher	Sociedad Médica de Santiago
publishDate	2014
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100009
work_keys_str_mv	AT roaivan mutaciondelgenbrafenpacientesconcanceresdecolonyrectoconkrasnomutado AT gameanakaren mutaciondelgenbrafenpacientesconcanceresdecolonyrectoconkrasnomutado AT bizamacarolina mutaciondelgenbrafenpacientesconcanceresdecolonyrectoconkrasnomutado AT schalperkurt mutaciondelgenbrafenpacientesconcanceresdecolonyrectoconkrasnomutado
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Mutación del gen BRAF en pacientes con cánceres de colon y recto con KRAS no mutado

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