ArticleAnnals of surgery2007
CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.
Article in Annals of surgery, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 4 of them syntheses that pooled it.
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60 citing papers in PubMed, 4 syntheses or guidelines pooled it, 173 citations in OpenAlex.
- Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women.Journal of cancer research and clinical oncology · 2023Pooled it
- Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance.Familial cancer · 2012Guideline
- A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2012Pooled it
- Preemptive surgery for premalignant foregut lesions.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2009Pooled it
- Hidden in Plain Sight: Gastric Adenocarcinoma in Endoscopically Normal Mucosa in a CDH1 Mutation Carrier.ACG case reports journal · 2026Article
- Jeff Norton and the Definition of 'Un'.Annals of surgical oncology · 2024Article
- Festschrift for Dr. Jeffrey A. Norton, 12-13 October 2023, Stanford, CA, USA.Annals of surgical oncology · 2024Article
- Review
- Pioneering use of genetic analysis foreGastroenterology · 2023Article
- [Hereditary diffuse gastric cancer].Chirurgie (Heidelberg, Germany) · 2023Review
- CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study.Familial cancer · 2023Article
- Presentation and treatment of aggressive, Triple-Negative carcinosarcoma of the breast.Clinical case reports · 2022Article
- Article
- Evaluation of confocal laser endomicroscopy for detection of occult gastric carcinoma inJournal of gastrointestinal oncology · 2021Article
- Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.Cancers · 2021Review
- Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.Cancers · 2020Article
- Indications for Total Gastrectomy in CDH1 Mutation Carriers and Outcomes of Risk-Reducing Minimally Invasive and Open Gastrectomies.JAMA surgery · 2020Article
- Review
- Consensus statement of the Hellenic and Cypriot Gastric Cancer Study Group on the diagnosis, staging and management of gastric cancer.Updates in surgery · 2020Article
- Network-Based Genetic Profiling Reveals Cellular Pathway Differences Between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma.International journal of environmental research and public health · 2020Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApproximately 1% to 3% of all gastric cancers are associated with families exhibiting an autosomal dominant pattern of susceptibility. E-cadherin (CDH1) truncating mutations have been shown to be present in approximately 30% of families with hereditary diffuse gastric cancer (HDGC) and are associated with a significantly increased risk of gastric cancer and lobular breast cancer.
methodsIndividuals from a large kindred with HDGC who were identified to have a CDH1 mutation prospectively underwent comprehensive screening with stool occult blood testing, standard upper gastrointestinal endoscopy with random gastric biopsies, high-magnification endoscopy with random gastric biopsies, endoscopic ultrasonography, CT, and PET scans to evaluate the stomach for occult cancer. Subsequently, they each underwent total gastrectomy with D-2 node dissection and Roux-en-Y esophagojejunostomy. The stomach and resected lymph nodes were evaluated pathologically.
resultsSix patients were identified as CDH1 carriers from a single family. There were 2 men and 4 women. The mean age was 54 years (range, 51-57 years). No patient had any signs or symptoms of gastric cancer. Exhaustive preoperative stomach evaluation was normal in each case, and the stomach and adjacent lymph nodes appeared normal at surgery. However, each patient (6 of 6, 100%) was found to have multiple foci of T1 invasive diffuse gastric adenocarcinoma (pure signet-ring cell type). No patient had lymph node or distant metastases. Each was staged as T1N0M0. Each patient recovered uneventfully without morbidity or mortality.
conclusionsCDH1 mutations in individuals from families with HDGC are associated with gastric cancer in a highly penetrant fashion. CDH1 mutations are an indication for total gastrectomy in these patients. This mutation will identify patients with cancer before other detectable symptoms or signs of the disease.
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