Análisis molecular del cáncer de colon esporádico

Background: In Chile, colorectal cancer (CRC) is often diagnosed in late stages. Thus, surgical treatment must be complemented with chemotherapy. KRAS mutations and microsatellite instability have been detected in these tumors. However, the response to treatment in patients without KRAS mutations va...

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Autores principales:	Hurtado,Claudia, Wielandt,Ana María, Zárate,Alejandro J, Kronberg,Udo, Castro,Magdalena, Yamagiwa,Ken, Ito,Takashi, Eishi,Yoshinobu, Contreras,Luis, López-Köstner,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2015
Materias:	BRAF protein, human Colonic neoplasms KRAS protein, human PIK3CA protein, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000300005
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spelling	oai:scielo:S0034-988720150003000052015-08-11Análisis molecular del cáncer de colon esporádicoHurtado,ClaudiaWielandt,Ana MaríaZárate,Alejandro JKronberg,UdoCastro,MagdalenaYamagiwa,KenIto,TakashiEishi,YoshinobuContreras,LuisLópez-Köstner,Francisco BRAF protein, human Colonic neoplasms KRAS protein, human PIK3CA protein, human Background: In Chile, colorectal cancer (CRC) is often diagnosed in late stages. Thus, surgical treatment must be complemented with chemotherapy. KRAS mutations and microsatellite instability have been detected in these tumors. However, the response to treatment in patients without KRAS mutations varies and requires a better understanding. Aim: To determine the frequency and distribution of somatic point mutations in KRAS, BRAF and PIK3CA genes and microsatellite instability status (MSI) in patients with colon cancer (CC). Material and Methods: A prospective observational study of patients undergoing surgery for colon cancer. Tumor-derived DNA was analyzed by polymerase chain reaction (PCR) for the most frequent mutations of KRAS, BRAF and PIK3CA. PCR was also used to analyze MSI. Results: Fifty-eight patients with sporadic CC were analyzed, 16 showed KRAS mutations (G12R, G12D, G12V, G13D) and out of the 42 patients that did not show any mutation, 10 had mutations in BRAF (V600E) and PIK3CA (E542K, E545D, E545K, Q546E, H1047R). BRAF mutations alone or in combination with PIK3CA mutations were observed in 27% of high MSI tumors and in 2% of tumors without instability (p < 0.049). A higher percentage of high MSI tumors were located in the right colon (p < 0.001), and showed BRAF mutation (p < 0.020). Conclusions: The highest percentage of high MSI and BRAF mutations was observed in the right colon. Therefore, this study suggests the presence of different molecular features between right and left colon tumors that should be considered when defining the therapeutic management.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.143 n.3 20152015-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000300005es10.4067/S0034-98872015000300005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	BRAF protein, human Colonic neoplasms KRAS protein, human PIK3CA protein, human
spellingShingle	BRAF protein, human Colonic neoplasms KRAS protein, human PIK3CA protein, human Hurtado,Claudia Wielandt,Ana María Zárate,Alejandro J Kronberg,Udo Castro,Magdalena Yamagiwa,Ken Ito,Takashi Eishi,Yoshinobu Contreras,Luis López-Köstner,Francisco Análisis molecular del cáncer de colon esporádico
description	Background: In Chile, colorectal cancer (CRC) is often diagnosed in late stages. Thus, surgical treatment must be complemented with chemotherapy. KRAS mutations and microsatellite instability have been detected in these tumors. However, the response to treatment in patients without KRAS mutations varies and requires a better understanding. Aim: To determine the frequency and distribution of somatic point mutations in KRAS, BRAF and PIK3CA genes and microsatellite instability status (MSI) in patients with colon cancer (CC). Material and Methods: A prospective observational study of patients undergoing surgery for colon cancer. Tumor-derived DNA was analyzed by polymerase chain reaction (PCR) for the most frequent mutations of KRAS, BRAF and PIK3CA. PCR was also used to analyze MSI. Results: Fifty-eight patients with sporadic CC were analyzed, 16 showed KRAS mutations (G12R, G12D, G12V, G13D) and out of the 42 patients that did not show any mutation, 10 had mutations in BRAF (V600E) and PIK3CA (E542K, E545D, E545K, Q546E, H1047R). BRAF mutations alone or in combination with PIK3CA mutations were observed in 27% of high MSI tumors and in 2% of tumors without instability (p < 0.049). A higher percentage of high MSI tumors were located in the right colon (p < 0.001), and showed BRAF mutation (p < 0.020). Conclusions: The highest percentage of high MSI and BRAF mutations was observed in the right colon. Therefore, this study suggests the presence of different molecular features between right and left colon tumors that should be considered when defining the therapeutic management.
author	Hurtado,Claudia Wielandt,Ana María Zárate,Alejandro J Kronberg,Udo Castro,Magdalena Yamagiwa,Ken Ito,Takashi Eishi,Yoshinobu Contreras,Luis López-Köstner,Francisco
author_facet	Hurtado,Claudia Wielandt,Ana María Zárate,Alejandro J Kronberg,Udo Castro,Magdalena Yamagiwa,Ken Ito,Takashi Eishi,Yoshinobu Contreras,Luis López-Köstner,Francisco
author_sort	Hurtado,Claudia
title	Análisis molecular del cáncer de colon esporádico
title_short	Análisis molecular del cáncer de colon esporádico
title_full	Análisis molecular del cáncer de colon esporádico
title_fullStr	Análisis molecular del cáncer de colon esporádico
title_full_unstemmed	Análisis molecular del cáncer de colon esporádico
title_sort	análisis molecular del cáncer de colon esporádico
publisher	Sociedad Médica de Santiago
publishDate	2015
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000300005
work_keys_str_mv	AT hurtadoclaudia analisismoleculardelcancerdecolonesporadico AT wielandtanamaria analisismoleculardelcancerdecolonesporadico AT zaratealejandroj analisismoleculardelcancerdecolonesporadico AT kronbergudo analisismoleculardelcancerdecolonesporadico AT castromagdalena analisismoleculardelcancerdecolonesporadico AT yamagiwaken analisismoleculardelcancerdecolonesporadico AT itotakashi analisismoleculardelcancerdecolonesporadico AT eishiyoshinobu analisismoleculardelcancerdecolonesporadico AT contrerasluis analisismoleculardelcancerdecolonesporadico AT lopezkostnerfrancisco analisismoleculardelcancerdecolonesporadico
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Análisis molecular del cáncer de colon esporádico

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