家族性腺瘤性息肉病易感基因突变类型与临床表型关系的研究进展  

Advance in research on the correlation between genotypes of susceptible mutations and clinical phenotype of familial adenomatous polyposis

作　　者：何圣梁 杜晶[2] 刘方奇 

机构地区：[1]复旦大学附属肿瘤医院大肠外科,复旦大学上海医学院肿瘤学系,上海200032 [2]上海市计划生育科学研究所,200032

出　　处：《中华医学遗传学杂志》2017年第6期919-923,共5页Chinese Journal of Medical Genetics

摘　　要：家族性腺瘤性息肉病是最常见的遗传性结直肠癌之一，其临床表型与患者APC基因的突变位点有关。本文对APC基因检测为阴性但有明确临床表现的患者可能携带的其他基因调控位点，包括MUTYH基因、AXIN基因和表观遗传学改变等进行了概述。随着精准医学理念的推广，有效地结合家族性腺瘤性息肉病患者基因型与表型的对应关系，提供个体化的治疗方案及随访策略将具有积极的临床意义。本文对近年来家族性腺瘤性息肉病APC基因突变与表型相关性方面的最新研究进展进行了综述。Familial adenomatous polyposis （FAP） is one of the most common hereditary colorectal cancers. Its intestinal and extra-intestinal manifestations are correlated with mutation sties of the APC gene. Potential gene modulation sites in patients who have typical clinical manifestations but with unidentified APC mutations are also discussed, which included MUTYH gene, AXIN gene and certain epigenetic changes. With the generalization of Precision Medicine, to offer individualized treatment and surveillance strategy based on the genotype-phenotype correlation will be of great value for FAP patients. This review focuses on the research advance in genotype - phenotype correlation studies of FAP patients.

关 键 词：家族性腺瘤性息肉病 APC基因 MUTYH基因 AXIN基因 表观遗传学 

分 类 号：R394[医药卫生—医学遗传学]