Clinical Domain Working Groups

The ClinGen Hereditary Cancer Gene Curation Working Group focuses on curating well-described cancer predisposition genes for their major associated syndromes. In 2014, 114 cancer predisposition genes were identified in Nazneen Rahman's Nature paper which was an early focus of the GCEP work. The HC-GCEP will also establish additional target goals for gene curation in different hereditary cancer fields, and completing recuration of breast, ovarian, colon, and pancreatic cancer genes and polyposis/colon cancer genes. We are utilizing ClinGen’s systematic, evidence-based framework to evaluate the strength of gene-disease relationships between cancer predisposition genes and their major associated syndromes. This effort will facilitate more knowledgeable utilization of genomic variants in clinical and cancer research, and provide a strong foundation for genomic medicine.