ArticleEuropean journal of human genetics : EJHG2018
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women.Journal of cancer research and clinical oncology · 2023Pooled it
- Review
- Optimising clinical care throughJournal of medical genetics · 2023Article
- CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study.Familial cancer · 2023Article
- Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors.Turkish journal of medical sciences · 2022Article
- Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.Cancers · 2021Review
- Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature.World journal of gastroenterology · 2020Review
- Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.Cancers · 2020Review
- Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing.Diagnostic pathology · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-cadherin, the protein encoded by CDH1, and to predict their clinical significance. Herein, we have identified a recurrent germline missense variant, c.1679C>G, segregating with gastric cancer in three unrelated Spanish families. Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling.
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