ArticleFrontiers in genetics2026
A novel pathogenic
Article in Frontiers in genetics, 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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7 authors.
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Abstract
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder characterized by the development of numerous colorectal polyps and a high predisposition to colorectal cancer, primarily caused by germline variants in the Methods: A three-generation Chinese FAP pedigree was recruited. Peripheral blood samples were collected from family members to extract genomic DNA. Whole-exome sequencing (WES) was performed to screen candidate variants, and Sanger sequencing was used for verification. SW480 cells (endogenously deficient in functional APC) were divided into three groups: empty vector group, APC-wild-type (APC-WT) group, and APC-mutant group. Western blot analysis was conducted to detect β-catenin protein expression levels, to evaluate the functional impact of the identified variant. Results: The proband's FAP-associated colorectal cancer was identified as exhibiting microsatellite instability high (MSI-H) with a classic MLH1/PMS2 dual loss pattern. A novel germline variant Conclusion: The novel
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