ArticleHuman molecular genetics2021
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Pharmacogenomics: A Genetic Approach to Drug Development and Therapy.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Three-dimensional genome structure and function.MedComm · 2023Review
- TheInternational journal of molecular sciences · 2023Article
- Molecular factors, diagnosis and management of gastrointestinal tract neuroendocrine tumors: An update.World journal of clinical cases · 2022Review
- Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.American journal of human genetics · 2022Article
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Authors and funding
24 authors at 4 institutions in 3 countries.
Funding
Abstract
Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization and organoid culture. We detected a heterozygous deletion at the cystic fibrosis locus (7q31.2) perfectly segregating with the intestinal tumor predisposition in the family. The deletion removes a topologically associating domain border between CFTR and WNT2, aberrantly activating WNT2 in the intestinal epithelium. These consequences suggest that the deletion predisposes to small intestinal neuroendocrine tumors and small and large intestinal adenocarcinomas, and reveals the broad tumorigenic effects of aberrant WNT activation in the human intestine.
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Registered trials
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