ArticleBMC cancer2019
CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.
Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges.Molecular oncology · 2021Pooled it
- The feasible role of soluble E‑cadherin in spheroidogenesis of HCT116 colorectal cancer cells, a candidate biomarker for liquid biopsy.Oncology letters · 2025Article
- Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.Genes & diseases · 2022Review
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- The changing face of gastric cancer: epidemiologic trends and advances in novel therapies.Cancer gene therapy · 2021Review
- Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2020Article
- Article
- Establishment and characterization of 18 human colorectal cancer cell lines.Scientific reports · 2020Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundDiffuse gastric cancer (DGC) is associated with the reduction or absence of the expression of the cell adhesion protein E-cadherin (encoded by the CDH1 gene). Molecular characteristics are less well described for mixed gastric cancer (MGC). The main somatic alterations that have been described in the CDH1 gene are mutations, loss of heterozygosity (LOH) and promoter methylation. The aim was to analyze CDH1 somatic alterations in Mexican patients with diffuse and mixed gastric cancer.
methodsWe searched for mutations in the CDH1 gene in tumor DNA from DGC (n = 13) and MGC (n = 7) patients by next generation sequencing (NGS). Validation of findings was performed using Sanger sequencing. LOH was analyzed using dinucleotide repeat markers surrounding the CDH1 gene, and methylation was investigated by DNA bisulfite conversion and sequencing. E-cadherin protein deficiency was analyzed by immunohistochemistry.
resultsSeventeen point variants were identified by NGS, 13 of them were validated by Sanger sequencing. Only 1/13 had not been previously reported (c.-137C > A), and 12/13 were already reported as polymorphisms. Two DGC cases presented LOH at the locus 16q22.1 (13.3%). CDH1 promoter methylation was positive in (7/11) 63.6% and (4/6) 66.6% of the cases with DGC and MGC, respectively. E-cadherin protein deficiency was observed in 58.3% of DGC cases while 100% in MGC cases.
conclusionsWhile no pathogenic somatic mutations were found that could explain the diffuse histology of gastric cancer in DGC and MGC, methylation was the most common somatic inactivation event of the CDH1 gene, and LOH was rare. The previously unreported c.-137C > A variant modify the CDH1 gene expression since it alters the binding sites for transcription factors.
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