APC基因启动子1B区域罕见变异在经典型家族性腺瘤性息肉病中的作用

Abstract

Familial adenomatous polyposis (FAP) is most commonly caused by germline variants in the adenomatous polyposis coli (APC) gene. Although definite pathogenic variants could be detected in the majority of individuals with FAP, there are still numerous variant-negative FAP patients.