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Related Experiment Video

Updated: Jan 1, 2026

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
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CDH1 on Multigene Panel Testing: Look Before You Leap.

Bryson W Katona1, Dana Farengo Clark2, Susan M Domchek2

  • 1Division of Gastroenterology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Journal of the National Cancer Institute
|December 17, 2019
PubMed
Summary
This summary is machine-generated.

Multigene panel testing (MGPT) can reveal unexpected CDH1 gene variants, impacting hereditary diffuse gastric cancer risk assessment. Pretest counseling is crucial for patients and providers navigating these findings.

Area of Science:

  • Genetics
  • Oncology
  • Clinical Diagnostics

Background:

  • Multigene panel testing (MGPT) is increasingly used for cancer risk assessment.

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  • The CDH1 gene, encoding E-cadherin, is critical for hereditary diffuse gastric cancer (HDGC) syndrome.
  • Germline CDH1 variants are linked to HDGC, but penetrance in unselected populations may be lower than previously thought.