Sean V. Tavtigian

Sean V. Tavtigian, PhD

Sean V. Tavtigian is a Professor in the Department of Oncological Sciences at the University of Utah School of Medicine and serves as co-leader of the Huntsman Cancer Institute's Cancer Control and Population Sciences Program. He directs the Huntsman Center for Cancer Genetics and has established himself as a leading expert in cancer susceptibility gene research and variant classification methodology. Dr. Tavtigian's work bridges basic science and clinical applications, directly impacting genetic testing practices worldwide.

Education

• Bachelor's degree (Honors) in Biology and Chemistry from Pomona College (1984)
• PhD in Molecular Biology and Biochemistry from California Institute of Technology (Caltech)

Research Focus

Dr. Tavtigian's laboratory pursues two interconnected research strands with significant clinical implications:

• Cancer Susceptibility Gene Discovery: Using next-generation sequencing approaches including whole-exome mutation screening in pedigrees and biochemical pathway-based mutation screening in case-control formats to identify high-risk and intermediate-risk susceptibility genes for breast, colorectal, and head & neck cancers
• Variant Classification: Developing and refining the "integrated evaluation" bioinformatics framework for classifying variants of uncertain significance (VUS) in cancer susceptibility genes, with particular focus on BRCA1, BRCA2, MLH1, and MSH2

His research has evolved from early positional cloning methods to sophisticated computational and functional approaches that address the growing challenge of interpreting genetic variants identified through multigene panel testing.

Methodological Contributions

Dr. Tavtigian has pioneered several critical approaches in variant interpretation:

• Calibration of computational prediction tools for missense variant pathogenicity assessment
• Development of Bayesian frameworks for variant classification
• Integration of functional assay data with computational predictions
• Creation of standardized point systems aligned with ACMG/AMP guidelines
• Expansion of classification methods to cover multiple cancer susceptibility genes beyond BRCA

Professional Leadership

Dr. Tavtigian plays an active role in shaping variant interpretation standards through participation in ClinGen and ENIGMA consortia. His work on ACMG/AMP guideline implementation has directly influenced clinical practice worldwide. He maintains extensive international collaborations across Europe, Australia, and North America, facilitating large-scale data sharing for improved variant classification.