Genetic Analysis of A Familial Adenomatous Polyposis Pedigree / 胃肠病学

ABSTRACT

Background: The adenomatous polyposis coli (APC) gene mutation is closely related to the risk of familial adenomatous polyposis (FAP). Aims: To analyze the genetic etiology of a FAP pedigree. Methods: FAP was diagnosed in a patient with repeated hematochezia after the receiving of endoscopy, pathological analysis and family history investigation. Genetic analysis was conducted by new-generation sequencing (NGS) technique in the FAP family members. Results: A heterozygous mutation of APC gene c.2800_2803delACTT (p.T934fs) was existed in the family members, which led to the frame shifts of APC gene and resulted in the change of encoding amino acids sequence and formed the abnormal proteins. This mutation could lead to serious FAP symptoms with early onset of colorectal adenoma and carcinogenesis. Conclusions: NGS can diagnose the disease much earlier and more accurately, and provide a new detection method for the early prevention of genetic diseases. The heterozygous mutation of p.T934fs is the root etiology of the clinical phenotype of this FAP pedigree, and polypectomy should be considered in affected members for preventing the carcinogenesis of colon.