Area of interest
Classify genetic variants in cancer susceptibility genes
Refining methods to classify all genetic variants through membership in the ClinGen Sequence Variant Interpretation (SVI) Working Group. The SVI is improving criteria for interpreting and integrating multiple lines of evidence (epidemiology, statistics, tumor pathology, evolution, structure, and function, computational algorithms).
Chair of the InSiGHT-ClinGen Polyposis-Colorectal Cancer Variant Curation Expert Panel, which is assessing variants in the APC, MUTYH, SMAD4, BMPR1, STK11, POLD1, and POLE genes.