Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1 / Hereditary colorectal cancer: Molecular analysis of APC and MLH1 genes
Rev. méd. Chile
; 134(7): 841-848, jul. 2006. ilus
Article
em Es
| LILACS
| ID: lil-434584
Biblioteca responsável:
BR1.1
RESUMO
Background:
Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC).Aim:
To screen mutations in FAP and HNPCC families in Chile. Materials andMethods:
Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed through polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein.Results:
In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA.Discussion:
Germ-line mutations were identified in the three families. The relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Neoplasias Colorretais
/
Genes APC
/
Polipose Adenomatosa do Colo
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
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Female
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Humans
/
Male
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2006
Tipo de documento:
Article
/
Project document
País de afiliação:
Chile
País de publicação:
Chile