Genetic detection for hereditary cancer syndrome among general population
10.12025/j.issn.1008-6358.2025.20241386
- VernacularTitle:遗传肿瘤易感基因检测在健康体检人群中的应用
- Author:
Xinning CHEN
1
;
Li ZHANG
1
;
Li YU
1
;
Huiqin JIANG
1
;
Fei HUANG
1
;
Chunyan ZHANG
2
;
Baishen PAN
1
;
Beili WANG
1
;
Wei GUO
3
Author Information
1. Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
2. Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China;Department of Laboratory Medicine, Shanghai Geriatric Medical Center, Shanghai 201100, China.
3. Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China;Department of Laboratory Medicine, Shanghai Geriatric Medical Center, Shanghai 201100, China;Department of Laboratory Medicine, Wusong Branch, Zhongshan Hospital, Fudan University, Shanghai 201900, China;Department of Laboratory Medicine, Zhongshan Hospital (Xiamen Branch), Fudan University, Xiamen 361015, Fujian, China.
- Publication Type:Originalarticle
- Keywords:
hereditary cancer;
susceptible gene;
genetic mutation;
next generation sequencing
- From:
Chinese Journal of Clinical Medicine
2025;32(4):627-633
- CountryChina
- Language:Chinese
-
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.
