CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.

ABSTRACT:

Background and aims

CDH1 germline variants have been linked to heritability in diffuse gastric (DGC) and lobular breast cancer (LBC). Studies have not yet assessed whether CDH1 is a cancer-susceptibility gene in other cancers. Herein, we mapped the landscape of pathogenic and likely pathogenic (P/LP) germline variants in CDH1 across various cancers and ethnicities.

Methods

We evaluated CDH1 germline P/LP variants in 212,944 patients at one CLIA-certified laboratory (Invitae) and described their frequency in 7 cancer types. We screened for CDH1 variant enrichment in each cancer relative to a cancer-free population from The Genome Aggregation Database version 3 (gnomADv3).

Results

CDH1 P/LP variants were identified in 141 patients, most commonly in patients with DGC (27

SUBMITTER: Adib E 

PROVIDER: S-EPMC8888603 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature