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...
| Authors: | ; ; ; ; ; ; |
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| Format: | Article |
| Status: | Published version |
| Publication date: | 2000 |
| Country: | Chile |
| Institution: | Agencia Nacional de Investigación y Desarrollo |
| Repository: | SciELO Chile |
| Language: | Spanish |
| OAI Identifier: | oai:scielo:S0034-98872000000900006 |
| Online Access: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000900006 |
| Access Level: | Open access |
| Keyword: | Carcinoma Colonic neoplasms p53 Gene Mutation Rectal neoplasms |
| Summary: | 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) |
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