UCSF

Liver cancer is diagnosed yearly in over 800,000 people worldwide. While several gene coding mutations have been found to be associated with this cancer, we lack an understanding of gene regulatory driver mutations that could also lead to liver cancer. Using short sequences, 16 base pairs in length, termed neomers, that are generally absent from the human genome but appear in liver cancer, we identify numerous potential causative gene regulatory mutations in promoters, potential enhancers and 3’UTRs. We identify noncoding neomers that are enriched in numerous patients and are thought to regulate cancer-associated genes. We also characterize specific one kilobase regions in the human genome that are enriched for noncoding neomers that reside near many relevant liver cancer genes. Combined, our study identifies novel mutations in gene regulatory elements that could be key regulators of liver cancer, providing a basis for potential downstream diagnosis and therapeutics.