2007 UALC
David Kwiatkowski, MD, PhD
Dana-Farber Cancer Institute
Research Project:
Role of TSC Genes in Lung Cancer
Summary:
Tuberous sclerosis is a tumor predisposition syndrome that is due to mutations in the TSC1 and TSC2 genes. Tuberous sclerosis patients often develop benign tumors in their lungs. Dr. Kwiatkowski is investigating the roles of these genes in the etiology of lung cancer.
More Content:
Final Report
Dr. Kwiatkowski found that the TSC genes are not frequently involved in lung cancer, but also discovered that both LKB1 and PTEN (to a lesser extent) are involved in lung cancer development. His team is now working on ways to therapeutically target the cancers lacking either of these genes. Including his collaborators, the team has published six papers and received over $2.5 million in follow-on funding to continue this project.
Notable Accomplishments
Partially due to UALC support, the team has developed a molecular genotyping platform at the Brigham and Women’s Hospital and Dana Farber Cancer Institute, which is being applied to hundreds of lung cancer specimens. A result of this effort is identification of specific gene mutations in over 100 patients with lung cancer, enabling molecularly targeted therapies. Dr. Kwiatkowski and colleagues are currently extending this effort to expand the range of genetic abnormalities that can be detected for therapeutic targeting.