Family’s history based on the CDH1 germline variant (C.360delG) and a suspected hereditary gastric cancer form

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Abstract

Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by germline pathogenic variant in CDH1, the gene encoding E-cadherin. The germline loss-of-function variants are the only proven cause of the cancer syndrome HDGC, occurring in approximately 10–18% of cases and representing a helpful tool in genetic counseling. The current case reports the family history based on a CDH1 gene variant, c.360delG, p.His121Thr in a suspected family for hereditary gastric cancer form. This frameshift deletion generates a premature stop codon at the amino acid 214, which leads to a truncated E-cadherin protein detecting it as a deleterious variant. The present study expands the mutational spectra of the family with the CDH1 variant. Our results highlight the clinical impact of the reported CDH1 variant running in gastric cancer families.

Original languageEnglish
Article number4904
Pages (from-to)1-7
Number of pages7
JournalInternational Journal of Molecular Sciences
Volume21
Issue number14
DOIs
Publication statusPublished - Jul 2 2020

Keywords

  • CDH1
  • E-cadherin
  • Genetic counseling
  • HDGC
  • Hereditary gastric cancer

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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