Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

ABSTRACT: The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the genetics community with a framework to assess variant pathogenicity; however, these rules are not gene specific. Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed. Given this challenge, the Clinical Genome Resource (ClinGen) Hereditary Cancer Domain prioritized the development of the CDH1 variant curation expert panel (VCEP) to develop and implement rules for CDH1 variant classifications. Here, we describe the CDH1 specific

SUBMITTER: Lee K 

PROVIDER: S-EPMC6188664 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature