Abstract
Interpretation of the clinical significance of somatic variants in cancer remains a major challenge in cancer diagnosis, prognosis, and treatment decisions. The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group (CDWG) facilitates the development of data curation guidelines and standards to determine the clinical significance of somatic alterations in cancer through structured collaboration. Over 180 multi-disciplinary experts in cancer biology, oncology, pathology, genetics, genomics, and informatics have come together to create high-quality, clinically-significant somatic cancer variant assertions in the CIViC knowledgebase, with further dissemination through other resources like ClinVar and the Variant Interpretation for Cancer Consortium (VICC) MetaKB. The Somatic CDWG has established the Pediatric Cancer and Hematological Cancer Taskforces, whose efforts facilitated membership growth and targeted curation projects. Their success led to the recent creation of the Solid Tumor Taskforce. Taskforces serve as incubators for the formation of Somatic Cancer Variant Curation Expert Panels (SC-VCEPs), the primary generators of the aforementioned high-level clinical assertions. SC-VCEPs undergo a 4-step approval process adapted from ClinGen germline VCEP procedures and develop granular specifications for their genomic alterations of interest through modifications of AMP/ASCO/CAP [PMID:27993330] and ClinGen/CGC/VICC Oncogenicity [PMID:35101336] guidelines. Three SC-VCEPs (FGFR variants, NTRK-fusions, and FLT3 variants) are working through this process and three (Histone H3, BCR::ABL1-like B-ALL, and Clinical Actionability) are in the planning stage. ClinGen Somatic groups have generated 634 CIViC Evidence Items and 21 assertions of clinical significance from 365 published papers. Our Taskforces and SC-VCEPs foster collaboration, innovation, and most importantly the advancement of precision medicine.
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