Cáncer hereditario de colon: Aportes del diagnóstico genético molecular / Molecular and genetic studies for hereditary colon cancer in two patients and their families
Rev. méd. Chile
; 138(12): 1530-1534, dic. 2010. ilus
Article
em Es
| LILACS
| ID: lil-583050
Biblioteca responsável:
BR1.1
ABSTRACT
Background:
About 30 percent of cases of colon cancer (CC) have a family history of CC, and only 5 percent are hereditary forms. Hereditary forms have an increased risk of CC and other tumors.Aim:
To report the molecular and genetic study in two families with hereditary CC. Material andMethods:
Molecular analysis of the adenomatous polyposis coli (APC) gene of familial adenomatous polyposis (FAP), was done in a patient with multiple benign polyps and his children. Molecular analysis was performed for MLH1 gene mutation of hereditary non-polyposis colon cancer (HNPCC) in an asymptomatic patient with family history of multiple cancers and his mother with a confrmed mutation in the MLH1 gene.Results:
The patient with FAP had an insertion of 17 base pairs in exon 9 of the APC gene and two of his children had the same mutation. The patient with history of HNPCC did not have the family mutation on MLH1.Conclusions:
In the case of FAP, molecular study was performed in his children since manifestations in carriers of the mutation may begin in childhood. If the second patient would have had the mutation, the study of his children could have been postponed until the age of 18, when the risk for CC is increased.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Linhagem
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Polipose Adenomatosa do Colo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Chile