Article
Genotype-phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis.
Cancer science - 1 Dec 2023
Shimamoto Yusaku, Takeuchi Yoji, Ishiguro Shingo, Nakatsuka Shin-Ichi, Yunokizaki Hiroshi, Ezoe Yasumasa, Nakajima Takeshi, Tanaka Kumiko, Ishihara Ryu, Takayama Tetsuji, Yoshida Teruhiko, Sugano Kokichi, Mutoh Michihiro, Ishikawa Hideki
Abstract excerpt
Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype-phenotype correlations. Therefore, we investigated FAP patients and the association between the severe...
Topics
- Humans
- Genes, APC
- Desmoid Tumors
- Genotype
- Adenomatous Polyposis Coli
- Phenotype
- Stomach Neoplasms
- Genetic Association Studies
- Mutation