Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families
The novel stop gain mutant (NM_000251.2:c.1486delT:p.L496*) in <i>MSH2</i> is deemed pathogenic for LS, and the mutant (NM_001258271.1:c.884 + 4A > G) in <i>MLH1</i> has been further confirmed to be pathogenic. These findings expand the spectrum of mismatch repair gene variations in the ethnic group Han of China and reaffirm the importance of genetic testing for LS.
Authors
- Juyi Li (ORCID: https://orcid.org/0000-0002-5141-4655)
- Haichun Ni
- Aiping Deng (ORCID: https://orcid.org/0000-0003-2119-7570)
- Jin Hu (ORCID: https://orcid.org/0000-0002-7773-9191)
- Wei Cai
- Xiufang Wang (ORCID: https://orcid.org/0000-0002-4223-8004)
- Hui Huang
- Lin Zhu (ORCID: https://orcid.org/0000-0003-0336-8209)
Institutions
- Central Hospital of Wuhan (CN)
- Tongji Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-03-14
- DOI
- https://doi.org/10.3389/fmed.2025.1527249
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47