ArticleFrontiers in medicine2025
Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families.
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- A novel frameshift variant inFrontiers in medicine · 2026Article
- Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome.Frontiers in medicine · 2025Article
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Authors and funding
8 authors.
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Abstract
Background: This study aimed to analyze the pathogenic variants in one family with colorectal cancer and another with endometrial cancer and provide appropriate personalized prevention strategies for carriers of these genetic mutations. Methods: One proband with colorectal cancer and another with endometrial cancer and their family members were enrolled in this study. Whole-exome sequencing was used to identify pathogenic gene mutations in both families. We compared the structural difference between the wild-type and mutant MSH2 proteins using SWISS-MODEL and PyMOL visualization software. Results: We identified one novel mutation (NM_000251.2:c.1486delT:p.L496*) in the Conclusion: The novel stop gain mutant (NM_000251.2:c.1486delT:p.L496*) in
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