ClinGen Hereditary Cancer Gene Curation Working Group focus on curating all the well-known cancer predisposition genes for their major associated syndromes. 114 cancer predisposition genes are identified in Nazneen Rahman’s Nature paper on 2014. Among those, 31 genes have already been curated by ClinGen Working Groups. There are 17 syndromes where cancer is a minor role and not a priority in this effort. The remain 66 cancer predisposition genes are the major focus of ClinGen Hereditary Cancer Gene Curation Working Group and they are being curated for their major associated syndromes even if individual cancer(s) have been done. Also in some cases, the dominant syndrome has been curated but not the recessive. We are utilizing a systematic, evidence-based method 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.
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.