遗传肿瘤易感基因检测在健康体检人群中的应用

陈馨宁; 张丽; 郁俐; 姜惠琴; 黄斐; 张春燕; 潘柏申; 王蓓丽; 郭玮

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

摘要:
目的探讨遗传肿瘤易感基因检测在健康体检人群中的应用。
方法回顾性纳入2021年9月至2024年4月于复旦大学附属中山医院健康管理中心行遗传肿瘤相关基因突变检测的健康体检人群（n=2 928）为研究对象。利用二代测序技术，采用美国医学遗传学与基因组学学会制定的序列变异解读指南进行检出变异的致病性分析，同时收集相关临床、影像和随访资料。
结果本研究中，遗传肿瘤易感基因阳性检出率为3.59%（105/2 928），其中MUTYH（MutY DNA 糖基化酶基因）变异携带率为0.61%（18/2 928），乳腺癌易感基因1/2（breast cancer susceptibility gene 1/2, BRCA1/2）为0.27%（8/2 928），错配修复（mismatch repair, MMR）基因为0.23%（7/2 928）。
结论携带遗传肿瘤易感基因的健康人群常无相关临床表型，能否在健康人群中全面开展检测待进一步探讨。

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.

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