ArticleJournal of medical genetics2019
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome.European journal of human genetics : EJHG · 2026Review
- The Changing Landscape of Hereditary Diffuse Gastric Cancer.Journal of gastric cancer · 2026Review
- CDH1 reduces endothelial cell permeability by enhancing CDH5 membrane expression under chronic intermittent hypoxia.European journal of medical research · 2025Article
- Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.Future science OA · 2025Article
- Dual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.World journal of gastrointestinal oncology · 2024Article
- Decoding the basis of histological variation in human cancer.Nature reviews. Cancer · 2024Review
- Chromoendoscopy in Combination with Random Biopsies for Patients with Pathogenic CDH1 Mutations Undergoing Endoscopic Surveillance.Journal of gastrointestinal cancer · 2023Article
- Current advances in understanding the molecular profile of hereditary diffuse gastric cancer and its clinical implications.Journal of experimental & clinical cancer research : CR · 2023Review
- Transversal Perspectives of Integrative Oncology Care in Gastric and Lobular Breast Cancer.Cancer treatment and research · 2023Article
- Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.The Lancet. Oncology · 2023Article
- Association ofGastro hep advances · 2023Article
- Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches.International journal of molecular sciences · 2022Review
- Diagnosis of MALT Lymphoma from Surveillance Endoscopy of a Patient with aGE Portuguese journal of gastroenterology · 2022Article
- GermlineCancers · 2021Article
- Improving the overall diagnostic rate of early gastric cancer by managing family members with hereditary cancer syndromes.Oncology letters · 2020Review
- Genetic Gastric Cancer Risk Syndromes.Current treatment options in gastroenterology · 2020Article
- First report of a Mexican family with mutation in the CDH1 gene.Molecular genetics & genomic medicine · 2020Article
- Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2020Article
- Family's History Based on theInternational journal of molecular sciences · 2020Article
- Hereditary gastric cancer: Three rules to reduce missed diagnoses.World journal of gastroenterology · 2020Review
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 1 country.
Funding
Abstract
introductionHereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. There is considerable heterogeneity in its clinical manifestations. This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC.
methodsOne hundred and fifty-two HDGC families, including six previously unreported families, were identified. CDH1 gene-specific guidelines released by the Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel were applied for pathogenicity classification of truncating, missense and splice site CDH1 germline variants. We evaluated ORs between location of truncating variants of CDH1 and incidence of colorectal cancer, breast cancer and cancer at young age (gastric cancer at <40 or breast cancer <50 years of age).
resultsFrequency of truncating germline CDH1 variants varied across functional domains of the E-cadherin receptor gene and was highest in linker (0.05785 counts/base pair; p=0.0111) and PRE regions (0.10000; p=0.0059). Families with truncating CDH1 germline variants located in the PRE-PRO region were six times more likely to have family members affected by colorectal cancer (OR 6.20, 95% CI 1.79 to 21.48; p=0.004) compared with germline variants in other regions. Variants in the intracellular E-cadherin region were protective for cancer at young age (OR 0.2, 95% CI 0.06 to 0.64; p=0.0071) and in the linker regions for breast cancer (OR 0.35, 95% CI 0.12 to 0.99; p=0.0493). Different CDH1 genotypes were associated with different intracellular signalling activation levels including different p-ERK, p-mTOR and β-catenin levels in early submucosal T1a lesions of HDGC families with different CDH1 variants.
conclusionType and location of CDH1 germline variants may help to identify families at increased risk for concomitant cancers that might benefit from individualised surveillance and intervention strategies.
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