December 22, 2022 – Associations Between CDH1 Germline Variants and Hereditary Diffuse Gastric Cancer Syndrome Cancer Phenotypes

In a study reported in The Lancet Oncology, Garcia-Pelaez and colleagues found that presence of germline truncating pathogenic variants or likely pathogenic variants of CDH1 were associated with hereditary diffuse gastric cancer (HDGC) tumor risk syndrome–related cancer phenotypes (lobular breast cancer, diffuse gastric cancer, and gastric cancer), with no apparent association of these phenotypes with CDH1 missense variants of unknown significance (VUS). Expansion of criteria for the lobular breast cancer phenotype was proposed to account for cases associated with CDH1 PV/LPVs that did not meet the 2020 clinical criteria for HDGC.