Research in the Tavtigian Lab concentrates on two areas of genetic susceptibility to cancer. The first is identification and characterization of intermediate-risk and high-risk cancer susceptibility genes. The second is analysis of unclassified variants that are observed during the clinical testing of established high-risk cancer susceptibility genes.
During his tenure at the International Agency for Research on Cancer (IARC), Sean Tavtigian, PhD, and his students developed several algorithms and websites dedicated to assessing unclassified sequence variants in cancer susceptibility genes. Several of these are still actively hosted by IARC. These include the following:
- The Align-GVGD server for assessing missense substitutions
- A website dedicated to prior probabilities in favor of pathogenicity for single nucleotide substitutions to the coding sequences of breast cancer susceptibility genes BRCA1 and BRCA2
- A website and database dedicated to classification of missense substitutions observed during clinical mutation screening of BRCA1 and BRCA2
- A website dedicated to prior probabilities in favor of pathogenicity for single nucleotide substitutions to the coding sequences of colorectal cancer susceptibility genes MLH1, MSH2, PMS2, and MSH6