A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
- Deborah I. Ritter1,2,
- Shruti Rao3,
- Shashikant Kulkarni1,4,
- Subha Madhavan3,
- Kenneth Offit5,6 and
- Sharon E. Plon1,2
- 1Baylor College of Medicine, Houston, Texas 77030, USA;
- 2Texas Children's Cancer Center, Texas Children's Hospital, Houston, Texas 77030, USA;
- 3Innovation Center for Biomedical Informatics, Georgetown University, Washington, D.C. 20007, USA;
- 4Baylor Genetics, Houston, Texas 77021, USA;
- 5Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA;
- 6Sloan Kettering Institute, New York, New York 10065, USA
- Corresponding author: splon{at}bcm.edu
Abstract
We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight specific examples from the CDH1 and PTEN Variant Curation Expert Panels (VCEPs) of the FDA-recognized process by which ClinGen VCEPs specify the American College of Medical Genetics and Genomics/Association of Molecular Pathology evidence code to develop variant classifications. We also review gene curations performed within the Hereditary Cancer Clinical Domain. We describe the parallel efforts for curation of somatic cancer variants from the Somatic Cancer Working Group. The ClinGen Germline/Somatic Committee is working to improve incorporation of both hereditary and somatic variant data to aid clinical interpretation. These ClinGen efforts rely on broad data sharing and detailed phenotypic and molecular information from published case studies to provide expert-curated variant interpretation to the cancer community.
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