Frequency of CDH1 Germline Mutations in Non-Gastric Cancers

Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by <i>CDH1</i> germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these <i>CDH1</i> mutations. In this review, we revised all studies reporting <i>CDH1</i> mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that <i>CDH1</i> mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant <i>CDH1</i> mutation affects the extracellular domain. Our data suggest that <i>CDH1</i> genetic testing should be considered also in other cancers, especially breast tumors.