Advance in research on the correlation between genotypes of susceptible mutations and clinical phenotype of familial adenomatous polyposis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 919-923, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-344145
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Genes APC
/
Polipose Adenomatosa do Colo
/
Predisposição Genética para Doença
/
DNA Glicosilases
/
Beta Catenina
/
Estudos de Associação Genética
/
Proteína Axina
/
Genética
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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