Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.

ABSTRACT:

Background

Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding on these procedures. The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of uncertain significance (VUS) and with ClinVar conflicting interpretations and continues to update these specifications.

Methods

CDH1 variant classification specifications were modified based on updated genetic testing clinical criteria, new recommendation

SUBMITTER: Luo X 

PROVIDER: S-EPMC10202836 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature