Greenblatt Research

Areas of interest

Cancer Genetics, Classifying genetic variants in cancer susceptibility genes, Hereditary Colon Cancer and Polyposis Syndromes

 

Hereditary Colorectal Cancer and Polyposis:  Chair of the InSiGHT-ClinGen Polyposis-Colorectal Cancer Variant Curation Expert Panel, which is refining strategies to classify variants in the APC, MUTYH, SMAD4, BMPR1, STK11, POLD1, and POLE genes. 

 

Refining methods to classify 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, clinical phenotype, tumor pathology, gene evolution, protein structure, functional assays, computational algorithms).