Tavtigian Lab
Principal Investigator: Sean Vahram Tavtigian
Institution: University of Utah (Salt Lake City, UT)
Primary Subfield: Molecular & Cell Bio
Recruitment Status: ✅ Hiring Postdocs
Research Focus
ABSTRACT Since approximately 2010, the scale of clinical cancer predisposition genetic testing has increased dramatically. While a large fraction of sequence variants observed during testing are easily classified as benign or pathogenic, many others – principally missense substitutions, in-frame indels, and splice junction variants – are not easily placed on a spectrum from benign to clearly pathogenic. These are termed Variants of Uncertain Significance (VUS), and the clinical management of families in which they segregate would be improved if they could actually be classified. Consortium efforts to develop methods for evaluation and classification of VUS in BRCA1 and BRCA2 date back to a Breast Cancer Information Core satellite meeting held at the ASHG annual meeting in 2000; and methods that had been developing separately within the breast cancer, colorectal cancer, melanoma, and Li Fraumeni-syndrome genetics communities were cross-pollinated at a 2008 International Agency for Research on Cancer (IARC) working group meeting on VUS in cancer susceptibility genes. However, neither the qualitative nor the quantitative methods that sprouted from that meeting produced a generalizable…
Active NIH Awards
- 5R01CA264971-05: Upgrading rigor and efficiency of germline cancer gene variant classification for the 2020s (2026)
- 1P01CA306870-01A1: Democratizing Detection of Hereditary Cancer Syndromes (2DETECT) (2026)
- 1P01CA306870-01A1: Administrative Core (2026)
- 1P01CA306870-01A1: Acceleration of reclassification of sequence variants of uncertain significance observed in individuals from populations with historically low participation in genetics research (2026)
- 5R01CA264971-04: Upgrading rigor and efficiency of germline cancer gene variant classification for the 2020s (2025)
Explore 700+ US Biology Labs on FindBioLabs.com