Abstract: Searching for Cancer Driver Mutations within Essential Regulatory Enhancers in Non-Coding DNA

Over the past few decades, many cancer-inducing mutations in the human exome have been identified, including but not limited to the BRCA1, BRCA2, and TP53 gene mutations.[1] With the recent commercialization of whole genome sequencing technologies, studies have pivoted towards exploring the possible existence of cancer drivers in non-coding regions of the human genome as well. In January of 2020, the Pan-Cancer Analysis of Whole Genomes (PCAWG) study was published, which utilized 2,658 whole genome sequences of cancer cell lines and their somatic counterparts to identify millions of potential non-coding cancer drivers. However, the identified cancer drivers have yet to be causally linked to any functionality in cell development and growth. This study seeks to intersect the PCAWG driver dataset with a set of essential enhancer elements in cancer cell lines produced by the Gersbach Lab at Duke University. If a high density of drivers from the PCAWG study is observed within the coordinates of the essential enhancers provided by the Gersbach data, it would lend credence to the identified drivers and provide them with functional contextualization. Confirming the existence of non-coding cancer drivers will allow us to deepen our understanding of cancer genetics and provide new frontiers to combat cancer.


[1] Lalloo, Fiona, et al. “BRCA1, BRCA2 And TP53 Mutations in Very Early-Onset Breast Cancer with Associated Risks to Relatives.” European Journal of Cancer, Pergamon, 27 Apr. 2006.

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