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Related Experiment Video

Updated: Jun 24, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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Germline CDH1 Variants and Lifetime Cancer Risk.

Carrie E Ryan1, Grace-Ann Fasaye2, Amber F Gallanis1

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|June 14, 2024
PubMed
Summary

Individuals with CDH1 gene variants have a lower lifetime risk of gastric cancer (7%-10%) than previously thought. However, the risk for breast cancer in female carriers remains significant at 37%.

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Area of Science:

  • Genetics and Genomics
  • Oncology
  • Cancer Epidemiology

Background:

  • Hereditary diffuse gastric cancer and lobular breast cancer are often linked to CDH1 gene variants.
  • Previous risk estimates for CDH1 variant carriers were high, impacting clinical management.
  • Accurate risk assessment is crucial for genetic counseling and preventative strategies.

Purpose of the Study:

  • To provide updated estimates of gastric and breast cancer risks for individuals carrying CDH1 pathogenic or likely pathogenic (P/LP) variants.
  • To re-evaluate the lifetime cumulative risk based on a North American cohort.
  • To inform clinical guidelines for managing hereditary cancer syndromes.

Main Methods:

  • A multicenter, retrospective cohort and modeling study involving 213 North American families.
  • Analysis of data from 7323 individuals, including 883 with CDH1 P/LP variants.
  • Estimation of hazard ratios (HRs) and calculation of cumulative risks up to age 80.

Main Results:

  • The lifetime cumulative risk of gastric cancer was 7%-10% in carriers, lower than prior estimates.
  • The lifetime cumulative risk of breast cancer in female carriers was 36.8%, consistent with previous findings.
  • Hazard ratios indicated a significantly increased risk for both gastric and breast cancers in carriers.

Conclusions:

  • Germline CDH1 P/LP variants are associated with a substantial risk of gastric and breast cancer.
  • Updated risk estimates suggest a lower gastric cancer risk but a persistent high breast cancer risk in female carriers.
  • These findings are essential for refining management strategies and genetic counseling for individuals with CDH1 variants.