Mutación del gen p53 en el cáncer de colon y recto

Background: Genetic events associated to colorectal carcinoma are well characterized, but there is scanty information about this issue in Chilean subjects. Aim: To determine the frequency and distribution of exons 5, 6, 7, 8 and 9 mutations and the immunohistochemical expression of p53 gene in biops...

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Autores principales:	Roa S,Juan Carlos, Roa E,Iván, Melo A,Angélica, Araya O,Juan C, Villaseca H,Miguel A, Flores M,Mariano, Schneider,Barbara
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2000
Materias:	Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006
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spelling	oai:scielo:S0034-988720000009000062005-11-15Mutación del gen p53 en el cáncer de colon y rectoRoa S,Juan CarlosRoa E,IvánMelo A,AngélicaAraya O,Juan CVillaseca H,Miguel AFlores M,MarianoSchneider,Barbara Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms Background: Genetic events associated to colorectal carcinoma are well characterized, but there is scanty information about this issue in Chilean subjects. Aim: To determine the frequency and distribution of exons 5, 6, 7, 8 and 9 mutations and the immunohistochemical expression of p53 gene in biopsy samples of colorectal carcinoma. Material and methods: p53 gene exons 5, 6, 7, 8 and 9 were directly sequenced in 42 biopsy samples of colorectal carcinoma. Immunohistochemical expression of p53 was determined in 35 samples. Results: Thirty one discrete mutations (12 transitions, 11 transversions and 8 insertions) were observed in 21 samples (60%). Nine samples had mutations in exon 5, twelve samples had mutations in exon 6, seven samples had mutations in exon 7 and three samples had mutations in exons 8 and 9. Immunohistochemical expression of p53 protein was observed in 18 of 35 cases. There was a high correlation between the genetic alteration and immunohistochemistry, when p53 was expressed in more the 20% of cells. The positive and negative predictive values of p53 expression were 87 and 80% respectively. There was a non significant lower mortality among patients with mutations in their biopsies. Conclusions: These results confirm the involvement of p53 gene mutations in colonic carcinogenesis. Immunohistochemical methods for the detection of p53 protein have a high predictive value (Rev Méd Chile 2000; 128: 996-1004)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.9 20002000-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006es10.4067/S0034-98872000000900006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms
spellingShingle	Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms Roa S,Juan Carlos Roa E,Iván Melo A,Angélica Araya O,Juan C Villaseca H,Miguel A Flores M,Mariano Schneider,Barbara Mutación del gen p53 en el cáncer de colon y recto
description	Background: Genetic events associated to colorectal carcinoma are well characterized, but there is scanty information about this issue in Chilean subjects. Aim: To determine the frequency and distribution of exons 5, 6, 7, 8 and 9 mutations and the immunohistochemical expression of p53 gene in biopsy samples of colorectal carcinoma. Material and methods: p53 gene exons 5, 6, 7, 8 and 9 were directly sequenced in 42 biopsy samples of colorectal carcinoma. Immunohistochemical expression of p53 was determined in 35 samples. Results: Thirty one discrete mutations (12 transitions, 11 transversions and 8 insertions) were observed in 21 samples (60%). Nine samples had mutations in exon 5, twelve samples had mutations in exon 6, seven samples had mutations in exon 7 and three samples had mutations in exons 8 and 9. Immunohistochemical expression of p53 protein was observed in 18 of 35 cases. There was a high correlation between the genetic alteration and immunohistochemistry, when p53 was expressed in more the 20% of cells. The positive and negative predictive values of p53 expression were 87 and 80% respectively. There was a non significant lower mortality among patients with mutations in their biopsies. Conclusions: These results confirm the involvement of p53 gene mutations in colonic carcinogenesis. Immunohistochemical methods for the detection of p53 protein have a high predictive value (Rev Méd Chile 2000; 128: 996-1004)
author	Roa S,Juan Carlos Roa E,Iván Melo A,Angélica Araya O,Juan C Villaseca H,Miguel A Flores M,Mariano Schneider,Barbara
author_facet	Roa S,Juan Carlos Roa E,Iván Melo A,Angélica Araya O,Juan C Villaseca H,Miguel A Flores M,Mariano Schneider,Barbara
author_sort	Roa S,Juan Carlos
title	Mutación del gen p53 en el cáncer de colon y recto
title_short	Mutación del gen p53 en el cáncer de colon y recto
title_full	Mutación del gen p53 en el cáncer de colon y recto
title_fullStr	Mutación del gen p53 en el cáncer de colon y recto
title_full_unstemmed	Mutación del gen p53 en el cáncer de colon y recto
title_sort	mutación del gen p53 en el cáncer de colon y recto
publisher	Sociedad Médica de Santiago
publishDate	2000
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006
work_keys_str_mv	AT roasjuancarlos mutaciondelgenp53enelcancerdecolonyrecto AT roaeivan mutaciondelgenp53enelcancerdecolonyrecto AT meloaangelica mutaciondelgenp53enelcancerdecolonyrecto AT arayaojuanc mutaciondelgenp53enelcancerdecolonyrecto AT villasecahmiguela mutaciondelgenp53enelcancerdecolonyrecto AT floresmmariano mutaciondelgenp53enelcancerdecolonyrecto AT schneiderbarbara mutaciondelgenp53enelcancerdecolonyrecto
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Mutación del gen p53 en el cáncer de colon y recto

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