中国临床医学2025，Vol.32Issue(4)：627-633,7.DOI:10.12025/j.issn.1008-6358.2025.20241386
遗传肿瘤易感基因检测在健康体检人群中的应用
Genetic detection for hereditary cancer syndrome among general population
摘要
Abstract
Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome(HCS)among general population.Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital,Fudan University,from September 2021 to April 2024 were enrolled retrospectively.Next generation sequencing was employed to identify susceptible genes for HCS.American College of Medical Genetics and Genomics(ACMG)guideline was used to analyze the pathogenicity of variants.Clinical data,imagings,follow-up data were also collected.Results The overall mutation rate of HCS panel was 3.59%(105/2 928),with 0.61%(18/2 928)for MutY DNA glycosylase(MUTYH),0.27%(8/2 928)for breast cancer susceptibility gene 1/2(BRCA1/2)and 0.23%(7/2 928)for mismatch repair(MMR)genes.Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes.Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.关键词
遗传性肿瘤/易感基因/基因变异/二代测序Key words
hereditary cancer/susceptible gene/genetic mutation/next generation sequencing分类
医药卫生引用本文复制引用
陈馨宁,张丽,郁俐,姜惠琴,黄斐,张春燕,潘柏申,王蓓丽,郭玮..遗传肿瘤易感基因检测在健康体检人群中的应用[J].中国临床医学,2025,32(4):627-633,7.基金项目
国家重点研发计划(2022YFC3602301,2022YFC3602302),上海市临床重点专科建设项目(shslczdzk03302),上海市宝山区医学重点专科(BSZK-2023-A18).Supported by National Key Research and Development Program of China(2022YFC3602301,2022YFC3602302),Constructing Project of Clinical Key Disciplines in Shanghai(shslczdzk03302),Medical Key Discipline of Shanghai Baoshan(BSZK-2023-A18). （2022YFC3602301,2022YFC3602302）
