Congratulations to project co-leaders Giovanni Parmigiani and Danielle Braun who recently received the Dean’s Fund for Scientific Advancement: Acceleration Award for their proposal on Inherited Cancer Risk Knowledge Base. Their research team is interested in providing decision support for precision prevention among people who test positive for genes that increase susceptibility to cancer. See their proposal abstract below:
With the decreasing cost of DNA sequencing, germline testing for inherited genetic susceptibility has become widely used. Multi-gene panels now routinely test 25 to 125 genes. Evidence on the types of cancer associated with susceptibility genes, and magnitude of increased risk from these mutations, is emerging rapidly. However, no comprehensive databases exist for both clinicians and researchers to access this information. Furthermore, the number of cancer×gene combinations is large, information is dispersed over a vast number of published studies, the quality of the studies is uneven, and the data presented are seldom directly applicable to precision prevention decisions, which require absolute risk. We plan to create a public access Risk Knowledge Base for researchers and clinicians. To achieve this we propose to develop the informatics infrastructure to perform large-scale annotation, sharing, integration and analysis of public domain data, from published studies. We expect that our work will have a significant clinical and scientific impact supporting personalized prevention decisions for individuals who test positive for genetic mutations, as well as having a positive effect on genetics and epidemiology by supporting the interpretation of results and prioritization of new studies.