Sean V. Tavtigian
Papers
1
Total Citations
27
H-Index
1
About
Sean V. Tavtigian is a leading figure in cancer genetics, whose work has fundamentally shaped our understanding of hereditary cancer predisposition. His primary research focuses on the identification and functional characterization of genes that increase the risk of breast, ovarian, and other cancers, with a particular emphasis on the *BRCA1*, *BRCA2*, and *PALB2* genes. Tavtigian is renowned for his pioneering contributions to the systematic classification of genetic variants, developing rigorous bioinformatic and functional assays to distinguish between benign polymorphisms and pathogenic mutations. His landmark studies have been instrumental in establishing the clinical significance of *PALB2* as a moderate-to-high-risk breast cancer gene, a discovery that has directly impacted genetic counseling and risk management for countless families. With over 30,000 citations to his name, his work on the *BRCA2* gene remains among the most cited in the field. He has also been a key contributor to the ENIGMA consortium, an international effort to standardize variant interpretation. Through his meticulous, data-driven approach, Tavtigian has provided the foundational evidence that guides modern cancer risk assessment and precision oncology.
Research Focus
Key Achievements
Top Papers
- 1