ArticleWorld journal of gastroenterology2025
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.
Article in World journal of gastroenterology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed.
- Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer.Genes · 2026Review
- TruncatingJournal of cancer prevention · 2026Article
- Expanding the genetic landscape of colorectal polyposis: Progress and challenges.World journal of gastroenterology · 2025Article
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Authors and funding
11 authors.
Funding
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Abstract
backgroundAdenomatous polyposis confers an increased risk of developing colorectal cancer.
aimTo investigate the underlying variant landscape in patients with suspected polyposis who lack variants in the
methodsTwenty-seven participants were included in the study and subjected to germline whole-exome sequencing. In addition, their clinical-pathological, personal, and family history data were collected.
resultsThe mean age at diagnosis was 51 years, and most participants had attenuated forms of polyposis (88.9%), with 63.0% diagnosed with a primary tumor, mostly colorectal cancer (76.5%). Among the variants identified, 17 were classified as pathogenic or likely pathogenic (in 12 participants), including variants in genes involved in the Wnt/β-catenin signaling pathway, such as
conclusionThis study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the
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