Three Novel Mutations of APC Gene Found in a Chinese Family with Familial Adenomatous Polyposis

作     者：Shujuan Gao Min Lin Yan Jin Zhuona Wang Yunqing Zhu Guisheng Liu Xueyan Guo 

作者机构：Department of GastroenterologyShaanxi Provincial People's HospitalXi'an 710068Shaanxi ProvinceChina Baoji Pepole's HospitalBaoji 721000Shaanxi ProvinceChina Medical College of Yan'an University Yan'an 716000Shaanxi ProvinceChina 

出 版 物：《Journal of Clinical and Nursing Research》 (临床护理研究（英文）)

年 卷 期：2022年第6卷第3期

页      面：174-180页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Familial adenomatous polyposis(FAP) Adenomatous polyposis coli(APC) Gene mutation 

摘      要：Objective:To identify the causative adenomatous polyposis coli(APC)gene defects associated with a pedigree of familial adenomatous polyposis(FAP).Methods:FAP was diagnosed based on clinical manifestations,family history,as well as endoscopic and pathological *** blood samples of the FAP pedigree members,colonic polyp patients,and normal individuals were *** DNA was then extracted from those *** mutation analysis was conducted via direct polymerase chain reaction(PCR)***:Three synonymous mutations and a missense mutation were found:c.5034GA(***678Gly),c.5465TA(*** 822Asp),c.5880GA(***960Pro),and c.5274TG(***758Ser)・Among them,the homozygous mutation on APC gene c.5034GA has been reported,while the other three mutations have not been reported in the Chinese Han *** with c.5465TA(***822ASP)missense mutation eventually suffer from colon cancer and have poor *** found no mutation in patients with simple intestinal polyp and in normal *** addition,there were homozygous and heterozygous mutations in different patients from the same ***:Three new mutations of APC gene were firstly reported in Han *** missense mutation of c.5465TA(*** 822Asp)may be the cause of carcinogenesis in this FAP pedigree with poor prognosis.