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Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients
Giovanni Corso1,2,3, Cristina Maria Trovato4, Salvatore Petitto1
1Division of Breast Surgery, European Institute of Oncology (IEO), IRCCS, Milan, Italy.
Oncology
|September 19, 2023
Summary
Reclassifying CDH1 variants in gastric cancer (GC) shows that only pathogenic/likely pathogenic variants meet hereditary diffuse gastric cancer (HDGC) criteria. Genetic testing for CDH1 should be limited to families with clear HDGC phenotypes.
Area of Science:
- Genetics
- Oncology
- Clinical Diagnostics
Background:
- Germline CDH1 variants are implicated in gastric cancer (GC).
- Previous classifications may not align with current standards.
- International clinical criteria for genetic testing exist.
Conclusions:
- Germline CDH1 genetic testing is recommended solely for families meeting established clinical criteria for HDGC syndrome.
- Clinical phenotypes not clearly fulfilling HDGC criteria should not be pursued for CDH1 genetic testing.
- Accurate variant classification and adherence to clinical criteria are crucial for appropriate genetic testing in hereditary gastric cancer.
