The frequency of CDH1 germline mutations in unselected individuals with diffuse gastric cancer is unknown.
A 2012 meta-analysis suggested that the frequency of CDH1 germline mutations is higher in geographic regions with low gastric cancer (GC) risks, compared to regions with moderate-high GC risks.r
Of the heritable mutations identified in the CDH1 gene, there has been only a single a case report of a de novo mutation.
||Probability of detecting a heritable mutation
|Family fulfils 2010 International Gastric Cancer Linkage Consortium for testing
|Family fulfils 2015 International Gastric Cancer Linkage Consortium Criteria for testing
|Affected individual <40, and is an isolated case DGC
|Affected individual <50 of NZ Maori ancestry
|Bilateral LCIS or LBC <50 yrs (not mixed pathology)
|Patient has a first or second degree relative with documented pathogenic mutation