ArticleJournal of medical genetics2004
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 140 papers, 4 of them syntheses that pooled it.
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Who cites it
140 citing papers in PubMed, 4 syntheses or guidelines pooled it, 363 citations in OpenAlex.
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- 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
- Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.BMC cancer · 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
- Immune, molecular and genetic profiles of gastric signet ring cell carcinoma: Recent progress and future challenges.International journal of cancer · 2026Review
- Hereditary diffuse gastric cancer with carcinogenesis from ectopic gastric mucosa in the duodenum.Clinical journal of gastroenterology · 2026Article
- A Canadian algorithm for upper gastrointestinal cancer management.Frontiers in oncology · 2025Article
- Dual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.World journal of gastrointestinal oncology · 2024Article
- Costs of Cancer Prevention: Physical and Psychosocial Sequelae of Risk-Reducing Total Gastrectomy.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Article
- Case Series of 11Genes · 2023Review
- What Is Known about Breast Cancer in Young Women?Cancers · 2023Review
- Current advances in understanding the molecular profile of hereditary diffuse gastric cancer and its clinical implications.Journal of experimental & clinical cancer research : CR · 2023Review
- Hereditary Diffuse Gastric Cancer: A 2022 Update.Journal of personalized medicine · 2022Review
- Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.The American journal of gastroenterology · 2022Article
- E-cadherin Expression in Canine Gastric Carcinomas: Association with Clinicopathological Parameters.Veterinary sciences · 2022Article
- Article
- Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations.Journal of human genetics · 2021Review
- Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.Cancers · 2021Review
- Tumor-infiltrating B cell is associated with the control of progression of gastric cancer.Immunologic research · 2021Article
- Hydrogen inhibits the proliferation and migration of gastric cancer cells by modulating lncRNA MALAT1/miR-124-3p/EZH2 axis.Cancer cell international · 2021Article
80 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
31 authors at 15 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations.
methodsForty three new gastric cancer (GC) families were ascertained from multiple sources. In 42 of these families at least one gastric cancer was pathologically confirmed to be a diffuse gastric cancer (DGC); the other family had intestinal type gastric cancers. Screening of the entire coding region of the CDH1 gene and all intron/exon boundaries was performed by bi-directional sequencing.
resultsNovel mutations were found in 13 of the 42 DGC families (31% overall). Twelve of these mutations occur among the 25 families with multiple cases of gastric cancer and with pathologic confirmation of diffuse gastric cancer phenotype in at least one individual under the age of 50 years. The mutations found include small insertions and deletions, splice site mutations, and three non-conservative amino acid substitutions (A298T, W409R, and R732Q). All three missense mutations conferred loss of E-cadherin function in in vitro assays. Multiple cases of breast cancers including pathologically confirmed lobular breast cancers were observed both in mutation positive and negative families.
conclusionGermline truncating CDH1 mutations are found in 48% of families with multiple cases of gastric cancer and at least one documented case of DGC in an individual under 50 years of age. We recommend that these criteria be used for selecting families for CDH1 mutational analysis.
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