ArticleHuman molecular genetics2010
Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 90 citations in OpenAlex.
- Precancerous pathways to gastric cancer: a review of experimental animal models recapitulating the correa cascade.Frontiers in cell and developmental biology · 2025Review
- Epigenetic Alterations from Barrett's Esophagus to Esophageal Adenocarcinoma.International journal of molecular sciences · 2023Review
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- Cadherin Expression and EMT: A Focus on Gliomas.Biomedicines · 2021Review
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- TheCancers · 2021Article
- Genetic and Epigenetic Alterations ofPharmaceuticals (Basel, Switzerland) · 2021Article
- Natural Selection on Exonic SNPs Shapes Allelic Expression Imbalance (AEI) Adaptability in Lung Cancer Progression.Frontiers in genetics · 2020Article
- Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer.Journal of gastrointestinal cancer · 2019Article
- Hereditary gastric cancer: what's new? Update 2013-2018.Familial cancer · 2019Review
- Monoallelic expression in melanoma.Journal of translational medicine · 2019Article
- Cadherin Signaling in Cancer: Its Functions and Role as a Therapeutic Target.Frontiers in oncology · 2019Review
- Diffuse Gastric Cancer: A Summary of Analogous Contributing Factors for Its Molecular Pathogenicity.International journal of molecular sciences · 2018Review
- Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.Gastrointestinal endoscopy · 2018Article
- Transcriptome profiling of cancer tissues in Chinese patients with gastric cancer by high-throughput sequencing.Oncology letters · 2018Article
- Characterizing MetastaticInternational journal of molecular sciences · 2017Article
- A central role for cadherin signaling in cancer.Experimental cell research · 2017Review
- Historical Perspective on Familial Gastric Cancer.Cellular and molecular gastroenterology and hepatology · 2017Review
- Diagnostic, Predictive, Prognostic, and Therapeutic Molecular Biomarkers in Third Millennium: A Breakthrough in Gastric Cancer.BioMed research international · 2017Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer susceptibility syndrome characterized by early-onset diffuse gastric cancer (DGC) and lobular breast cancer. E-cadherin (CDH1) heterozygous germline mutations and deletions are found in 40% of families. Independent of CDH1 alterations, most HDGC tumours display mislocalized or absent E-cadherin immunoexpression, therefore undetected defects at the CDH1 locus may still be involved. We aimed at determining whether CDH1 mutation-negative probands display germline CDH1 allele-specific expression (ASE) imbalance, using a single-nucleotide primer extension-based procedure and tried to uncover the underlying molecular defect. CDH1 ASE analysis was performed using three intragenic SNPs in RNA extracted from the blood of 21 cancer-free individuals and 22 HDGC probands (5 CDH1 mutation carriers and 17 CDH1 negative). Germline promoter methylation, deletions and haplotype-related susceptibility at the CDH1 locus were analysed. Both CDH1 alleles from cancer-free individuals displayed equivalent expression levels, whereas monoallelic CDH1 expression or high allelic expression imbalance (AI) was present in 80% of CDH1 mutant and 70.6% (n = 12) of CDH1-negative HDGC probands. Germline deletions and promoter hypermethylation were found in 25% of probands displaying high CDH1 AI. No particular haplotype was found to be associated with CDH1 high AI. Germline CDH1 AI is highly frequent among CDH1 mutation-negative probands but was not seen in cancer-free individuals. This implicates the CDH1 locus in the majority of mutation-negative HDGC families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.