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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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2000 |
| País: | Chile |
| Institución: | CONICYT Chile |
| Repositorio: | SciELO Chile |
| OAI Identifier: | oai:scielo:S0034-98872000000900006 |
| Acceso en línea: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006 |
| Access Level: | acceso abierto |
| Palabra clave: | Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms |
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oai:scielo:S0034-98872000000900006 |
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Chile |
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Mutación del gen p53 en el cáncer de colon y recto Roa S,Juan Carlos Roa E,Iván Melo A,Angélica Araya O,Juan C Villaseca H,Miguel A Flores M,Mariano Schneider,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) Sociedad Médica de Santiago http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006 |
| title |
Mutación del gen p53 en el cáncer de colon y recto |
| spellingShingle |
Mutación del gen p53 en el cáncer de colon y recto Roa S,Juan Carlos Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms |
| 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 |
| author |
Roa S,Juan Carlos |
| 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_role |
author |
| author2 |
Roa E,Iván Melo A,Angélica Araya O,Juan C Villaseca H,Miguel A Flores M,Mariano Schneider,Barbara |
| author2_role |
author author author author author author |
| topic |
Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms |
| topic_facet |
Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms |
| 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) |
| publishDate |
2000 |
| format |
article |
| status_str |
publishedVersion |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006 |
| eu_rights_str_mv |
openAccess |
| publisher |
Sociedad Médica de Santiago |
| institution |
CONICYT |
| collection |
SciELO Chile |
| reponame_str |
SciELO Chile |
| instname_str |
CONICYT Chile |
| _version_ |
1878404480843644928 |
| publishDateSort |
2000 |
| author_browse |
Araya O,Juan C Flores M,Mariano Melo A,Angélica Roa E,Iván Roa S,Juan Carlos Schneider,Barbara Villaseca H,Miguel A |
| publisherStr |
Sociedad Médica de Santiago |
| score |
6,924472 |