A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach

Research output: Contribution to journalArticlepeer-review

Abstract

Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs “E-cadherin” to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalCancer Biology and Therapy
DOIs
Publication statusAccepted/In press - Nov 11 2017

Keywords

  • CDH1
  • diffuse gastric cancer
  • E-Cadherin
  • germline mutation

ASJC Scopus subject areas

  • Molecular Medicine
  • Oncology
  • Pharmacology
  • Cancer Research

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