Sean Tavtigian

Sean Tavtigian is a Professor of Oncological Sciences at the University of Utah, affiliated with the Huntsman Cancer Institute and the Molecular Biology Program. His research focuses on genetic susceptibility to cancer, with emphasis on BRCA1/BRCA2 gene variants, variant classification, and functional assays for unclassified variants (UVs). He pioneered the integrated evaluation method for UV classification and contributes to ClinGen/InSiGHT consortium guidelines.

His work spans high-risk and intermediate-risk cancer susceptibility genes, utilizing next-generation sequencing, biochemical pathway analysis, and case-control mutation screening. Recent publications highlight advancements in ACMG/AMP variant classification criteria, computational tool calibration, and resolution of VUS in APC, ATM, and BRCA genes.