INTESTINE Vol.22 No.5(10-4)

Theme Molecular biology of colorectal tumors
Title Cases of suspected attenuated familial adenomatous polyposis
Publish Date 2018/09
Author Hiroyuki Takamaru Endoscopy Division, National Cancer Center Hospital
Author Kokichi Sugano Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute
Author Kengo Kasuga Endoscopy Division, National Cancer Center Hospital
Author Yutaka Saito Endoscopy Division, National Cancer Center Hospital
[ Summary ] Attenuated familial adenomatous polyposis (FAP) has been described as subtype of FAP with a milder clinical course.
The mutations in APC associated with attenuated FAP have been detected in parts of the gene different from classical FAP. The clinical and genetic diagnoses of attenuated FAP is sometimes deviated. Patients with Lynch syndrome, also known as serrated polyposis syndrome, have a number of flat lesions in the proximal colon. Patients with attenuated FAP may also present with such lesions in the proximal colon. An understanding of both genetic and clinical findings helps us to understand patients with such colon lesions.
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