Interpretation of germline genetic testing for CDH1 gene

Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis. Discussion with a genetic counselor and/or an expert in hereditary syndromes is likely to be appropriate for most individuals with a pathogenic or likely pathogenic variant in the CDH1 gene and/or a strong family history of hereditary diffuse gastric cancer syndrome associated cancers. Refer to other UpToDate content for additional details, including the starting age and frequency of interventions and screening.