Clinical Domain Working Groups
Hereditary Cancer Gene Curation Expert PanelMembership Documents
ClinGen Hereditary Cancer Gene Curation Working Group first focus on curating well-described 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. The HC-GCEP will also establish additional target goals for gene curation in different cancer fields. 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.
Expert Panel Status - Approved Expert Panel
Gene-Disease Validity Standard Operating Procedures, Version 7Curation Activity Procedures - August 12, 2019 - These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedure, version 7, released on August 12, 2019. A summary of the updates for version 7, as well as a highlighted and annotated pdf version are provided.
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.