MethylMix results presented at the 4th Cancer Epigenetics Conference

Julie and Kevin's abstract on "Methylation-Driven Subtyping of Head and Neck Squamous Cell Carcinoma" was accepted for oral presentation at the 4th Epigenetics Conference in San Francisco. 

Head and neck squamous cell carcinoma (HNSCC), a leading cause of cancer related death, is highly heterogeneous, with multiple distinct etiologies and molecular profiles, suggesting that multiple disease subtypes exist. Established HNSCC risk factors include HPV infection, smoking and age, all of which can alter DNA methylation. Therefore, we hypothesized that profiling of DNA methylation within HNSCC populations could identify HNSCC intrinsic subtypes. We applied MethylMix to genome-wide DNA methylation data for 528 HNSCC cases from The Cancer Genome Atlas to identify epigenetic ‘driver genes.’ These are genes that are abnormally methylated in cancer with corresponding alteration of mRNA expression. We then used unsupervised consensus clustering of driver gene methylation to classify patients into robust clusters or putative subtypes.

This study demonstrates that biologically and clinically distinct epigenetic HNSCC subtypes exist. Further investigation of these subtypes may lead to discovery of subtype-specific biomarkers and therapeutic targets.