ArticleFrontiers in medicine2026
A novel frameshift variant in
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: This study aimed to characterize the pathogenic variants in three colon cancer families suspected of Lynch syndrome (LS), providing experimental evidence for precision screening and genetic counseling of the disease. Methods: Three suspected LS families were first identified, and subsequently, immunohistochemical analysis was performed on colon tissue samples from probands to assess the expression of four DNA mismatch repair proteins. Whole-exome sequencing was conducted to screen for potential pathogenic variants within the families. The SWISS-MODEL online platform was used to predict the three-dimensional structures of the mutant and wild-type proteins based on bioinformatics analysis. The predicted structures were then visualized using PyMOL software. Results: Two known Conclusion: The
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