ArticleClinical journal of gastroenterology2024
A case of an unreported point mutation in promoter 1B of the adenomatous polyposis coli gene, which is responsible for gastric adenocarcinoma and proximal polyposis of the stomach.
Article in Clinical journal of gastroenterology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Clinicopathological Features and Management of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).Annals of surgical oncology · 2026Article
- The Role of Prophylactic Gastrectomy in Gastric Adenocarcinoma and Proximal Polyposis of the Stomach: A Systematic Review.Journal of clinical medicine · 2025Review
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8 authors at 2 institutions in 1 country.
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Abstract
A 35-year-old woman of Asian descent with epigastralgia was referred to our hospital. Esophagogastroduodenoscopy revealed gastric cancer in the upper body and carpeting fundic gland polyposis in the fornix and body. Computed tomography revealed no metastases. Total colonoscopy and capsule endoscopy revealed no polyposis, except in the stomach. The patient was diagnosed with advanced gastric cancer and underwent open total gastrectomy. We speculated that her gastric cancer was a hereditary tumor due to its early onset and accompanying fundic gland polyposis. Germline multi-gene panel testing identified a single-nucleotide variant, c.-191 T > G, in exon 1B of the adenomatous polyposis coli gene, which can cause gastric adenocarcinoma and proximal polyposis of the stomach. To our knowledge, this is the first manuscript to report the variant (c.-191 T > G) in promoter 1B of the adenomatous polyposis coli gene, which is related to a predisposition to gastric adenocarcinoma and proximal polyposis of the stomach.
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