ArticleGastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association2018
First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region.
Article in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- NovelFrontiers in genetics · 2026Article
- Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With theCase reports in genetics · 2026Article
- A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.Familial cancer · 2025Article
- The Role of Prophylactic Gastrectomy in Gastric Adenocarcinoma and Proximal Polyposis of the Stomach: A Systematic Review.Journal of clinical medicine · 2025Review
- 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.Clinical journal of gastroenterology · 2024Article
- Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data.Hereditary cancer in clinical practice · 2024Review
- Consideration of a Novel Surgical Approach in the Management of Gastric Adenocarcinoma and Proximal Polyposis Syndrome.JCO precision oncology · 2024Article
- Gastric fundic gland polyposis and cancer development after eradication of Helicobacter pylori in patient with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024Article
- Two families with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): case reports and literature review.Journal of gastrointestinal oncology · 2023Article
- The comprehensive review of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) from diagnosis and treatment.Annals of gastroenterological surgery · 2023Review
- Gastric Cancer: A Practical Review on Management of Individuals with Hereditary or Familial Risk for Gastric Cancer.GE Portuguese journal of gastroenterology · 2023Review
- Early Prophylactic Gastrectomy for the Management of Gastric Adenomatous Proximal Polyposis Syndrome (GAPPS).ACS case reviews in surgery · 2022Article
- Constitutional chromothripsis of theJournal of medical genetics · 2022Article
- Four cases of gastric adenocarcinoma and proximal polyposis of the stomach treated by robotic total gastrectomy.Surgical case reports · 2022Article
- Prophylactic laparoscopic total gastrectomy for gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): the first report in Asia.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2022Article
- Effects of the Wnt/Contrast media & molecular imaging · 2022Article
- RareGut · 2021Article
- Article
- Two Asian families with gastric adenocarcinoma and proximal polyposis of the stomach successfully treated via laparoscopic total gastrectomy.Clinical journal of gastroenterology · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 48-year-old Japanese female with left hypochondralgia presented at our hospital. Esophagogastroduodenoscopy (EGD) revealed gastric cancers and carpeting fundic gland polyposis (FGPs) without Helicobacter pylori infection. Computed tomography showed multiple liver metastases. Total colonoscopy revealed a colonic tubular adenoma but not polyposis. She was diagnosed as having advanced gastric cancer with liver metastasis and received chemotherapy. Her mother had died from gastric cancer, and her elderly brother and niece had FGPs as revealed by EGD. Thus, the pedigree was diagnosed as gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Germline mutation analysis exhibited a point mutation in exon1B of the APC gene (c.-191T > C). Adenocarcinoma showed a gastric mucinous phenotype and was positive for a somatic mutation of p53, suggesting that p53 mutation may play a role in FGPs carcinogenesis. This is the first family with GAPPS in Asia in whom germline mutation of APC exon 1B has been detected.
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