ArticleFrontiers in oncology2025
The use of whole genome sequencing to study young patients with 100+ adenomas of the colon.
Article in Frontiers in oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Modern descendants of Kyordyughen warrior (Yakutia, 4200 years before present) in populations of Far East.Journal of human genetics · 2026Article
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8 authors.
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Abstract
Objective: Adenomatous polyposis syndrome (APS) is a rare hereditary disease characterized by the development of multiple (more than 20) adenomas of the colon with a high-risk of malignant transformation without surgical treatment. The most aggressive form of APS, with >100 polyps before the age of 45 years, is mostly caused by germline pathogenic variants in the Patients and methods: DNA from blood samples of 10 patients (with age of APS manifestation between 15 and 45 years) with over 100 adenomatous colonic polyps identified by endoscopic examination was subjected to whole genome sequencing (WGS). Prior genetic testing did not detect any germline pathogenic variants in the Results: Pathogenic and likely pathogenic germline variants in non-coding regions of genes were identified in 3 patients. Two unrelated patients had the same c.-190G>A (rs879253785) in the 1B promoter of the Conclusion: Our results demonstrate that WGS is a useful genetic testing method for young patients with over 100 adenomatous colonic polyps, when routine DNA diagnostic methods fail to establish the genetic cause of the disease.
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