Clinical Domain Working Groups
InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Membership DocumentsThe InSiGHT Hereditary Colon Cancer / Polyposis VCEP is composed of subcommittees dealing with specific types of hereditary colon cancer, predominantly Lynch syndrome and the adenomatous polyposis syndromes. Due to the broad overlap of the phenotypes and the expertise available in the subcommittees, one VCEP covering all phenotypes with subcommittees covering gene specific phenotypes is optimal. Gene-specific Insight IARC classification criteria for MMR genes and the APC gene have been implemented into the ACMG-AMP guidelines and receive updates on a regular basis. The subcommittees will proceed with MUTYH, then STK11, then POLE and POLD1 in a staggered process followed by other CRC/polyposis genes like SMAD4 and BMPR1A.
Step 2 Approvals:
- May 4, 2022 - VCEP received approval to pilot ACMG/AMP specifications for MLH1, MSH2, MSH6, PMS2.
- June 13, 2022 - VCEP received approval to pilot ACMG/AMP specifications for APC.
Step 3 Approvals:
- November 8, 2022 - VCEP ACMG/AMP specifications approved for APC.
Step 4 Approvals:
- December 12, 2022 - VCEP completed the final stage of the Variant Curation Expert Panel approval process, readying them to submit their APC variant variant assertions to ClinVar as FDA Recognized Expert Panel submitters.
Expert Panel Status
Documents
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.