Abstract 3824: Human pan-cancer variomes and their epigenetic profiles: Extending beyond the coding region

Abstract

Abstract The identification on different cancer lines of non-synonymous single nucleotide variations (nsSNVs) has exploded as sequencing technology has improved and decreased in expense. The impact of these variations on specific genes is being widely studied thanks to efforts to unify fragmented information about sequence functional sites into comprehensive databases. In additional to sequence functional sites, DNA functional elements have been found throughout the genome - estimates by the ENCODE project of upwards of 80% of the genome - and account for at least some of the biological complexity of life. In this study, we investigate the frequency of cancer related nsSNVs on tissue-independent DNA functional element sites comprised of 14 different functional elements. Out of 1 651 364 cancer related nsSNVs that matched one or more of 5 680 308 total DNA elements collected, we identified a number of variations that significantly affect a broad range of DNA functional elements. Furthermore, we found distinct patterns of site disruptions due to germline and somatic nsSNVs. Pan-cancer analysis across several different cancer types led to the identification of nsSNVs located in functional elements found in 3 or more cancer types. Citation Format: John P. Torcivia-Rodriguez, Raja Mazumder. Human pan-cancer variomes and their epigenetic profiles: Extending beyond the coding region. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 3824. doi:10.1158/1538-7445.AM2015-3824