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Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant.

Zarina Yelskaya1, Angela G Arnold2, Vanessa J Marcell2

  • 1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.

European Journal of Human Genetics : EJHG
|February 23, 2021
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Summary

The CDH1 c.[715G>A] variant disrupts normal gene splicing, leading to premature protein truncation. This finding classifies the variant as pathogenic for Hereditary Diffuse Gastric Cancer (HDGC) syndrome.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Hereditary Diffuse Gastric Cancer (HDGC) is linked to CDH1 germline pathogenic variants.
  • CDH1 variants increase predisposition to diffuse gastric cancer and lobular breast cancer.

Purpose of the Study:

  • To classify the pathogenicity of the CDH1 c.[715G>A] missense variant.
  • Investigate the splicing impact of this variant in a gastric cancer-prone family.

Main Methods:

  • Splicing studies utilizing RT-PCR and cloning experiments.
  • Analysis of the CDH1 c.[715G>A] variant's effect on normal splicing.

Main Results:

  • The CDH1 c.[715G>A] variant activates a cryptic 3' acceptor splice site in exon 6.
  • This activation leads to aberrant splicing and premature protein truncation of E-cadherin.
  • The variant was confirmed to abolish normal splicing.

Conclusions:

  • The CDH1 c.[715G>A] variant is pathogenic.
  • This classification contributes to understanding HDGC genetic risk.