Genetic detection for hereditary cancer syndrome among general population
ObjectiveTo examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. MethodsA total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shanghai Chinese Clinical Medicine Press Co., Ltd.
2025-08-01
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| Series: | Zhongguo Linchuang Yixue |
| Subjects: | |
| Online Access: | https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241386 |
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| Summary: | ObjectiveTo examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. MethodsA 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. ResultsThe 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. ConclusionsHealthy 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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| ISSN: | 1008-6358 |