DR-281 Identification of Cancer-Driving Mutations in Non-coding Regions

98% of our genome is non-coding and recent studies – including the landmark PCAWG analysis of 2,600 whole genomes – have discovered a number of exciting candidate mutations in non-coding regions which may drive cancer processes. Understanding the mechanisms behind cancer processes – i.e. proliferation, invasion, metastasis, etc – is crucial to expanding treatment options. However, discovery of non-coding driver mutations is still in its nascency and statistical analysis of these regions continues to be refined. Our project improves on existing driver-calling methods by analyzing mutations in a cancer-specific context and across regulatory regions to identify novel non-coding driver mutations.

Ekta Khurana, Weill Medical College of Cornell University, United States of America