Jessica Bertout, PhD, VMD
- Fred Hutchinson Cancer Research Center
- 2013 Gilman Family Scholar
High-Resolution Detection of Somatic Ovarian Cancer Mutations in Bodily Fluids
Owing to a lack of effective screening tests, 80% of ovarian cancer patients are diagnosed in late stages of the disease at which point there are low survival rates. Methods that enumerate tumor cells and tumor DNA circulating in bodily fluids are currently under intense investigation for early detection and cancer diagnostics; however, no existing technology meets the high sensitivity and specificity requirements needed to attain these goals. Dr. Bertout proposes to use new technologies, building upon Next Generation Sequencing technologies to enable exquisitely sensitive cancer-specific mutation detection, to overcome these challenges, to permit the noninvasive early detection of ovarian cancer, and to extend patient survival.
John Paul Shen, MD
- University of California, San Diego
Improving Outcomes in Ovarian Cancer: A Network Genomics Approach
Technological advances now allow for sequencing of tumors from large patient cohorts. However, this knowledge of the cancer genome has not yet been translated into the clinical practice of oncology. Dr. Shen works in the Ideker lab which has developed a novel bioinformatic technique called network-based stratification that incorporates knowledge of genetic networks with somatic mutation profiles to allow for the unsupervised clustering of tumors into clinically relevant subtypes. This technique has demonstrated promise in predicting patient prognosis and response to platinum chemotherapy. Dr. Shen proposes validation of this method in vitro, the development of a clinical biomarker based on these subtypes, and a pilot test of said biomarker on primary tumor samples.
Barbara Norquist, MD
- University of Washington
- 2013 Skacel Family Scholar
Genes Contributing to Hereditary Ovarian Cancer in BRCA1/2 Wildtype Families
Nearly a quarter of ovarian cancer cases may be caused by inherited mutations, with a significant portion caused by mutations in genes other than BRCA1 and BRCA2 (BRCA1/2). Next generation sequencing techniques have made it possible to test for mutations in multiple genes simultaneously. However, little is known about the risks of carrying non-BRCA1/2 mutations, making it challenging to counsel healthy patients found to have mutations. Dr. Norquist plans to test for non-BRCA1/2 mutations in new and existing families with hereditary ovarian cancer in order to better define the risks of carrying these mutations and optimize strategies for prevention of cancer.