[Advance in research on the correlation between genotypes of susceptible mutations and clinical phenotype of familial adenomatous polyposis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 919-923, 2017 Dec 10.
Article
em Zh
| MEDLINE
| ID: mdl-29188631
ABSTRACT
Familial adenomatous polyposis (FAP) is one of the most common hereditary colorectal cancers. Its intestinal and extra-intestinal manifestations are correlated with mutation sties of the APC gene. Potential gene modulation sites in patients who have typical clinical manifestations but with unidentified APC mutations are also discussed, which included MUTYH gene, AXIN gene and certain epigenetic changes. With the generalization of Precision Medicine, to offer individualized treatment and surveillance strategy based on the genotype-phenotype correlation will be of great value for FAP patients. This review focuses on the research advance in genotype - phenotype correlation studies of FAP patients.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polipose Adenomatosa do Colo
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Mutação
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2017
Tipo de documento:
Article