Head and Neck Exome

Head and neck squamous cell carcinomas (HNSCC) include heterogeneous group of tumours, classified according to their anatomical site. It is the sixth most prevalent type of malignancy in the world and is of major concern in Southeast Asia, especially in India as it accounts for 40% of all malignancies. Studies pertaining to Head and Neck cancer have been largely clinical and treatment administration based and only two have been research based that have suggested therapeutic targets. These cancers are largely heterogenic and even more so in the Indian sub-continent, which makes our study significant in terms of obtaining cohort and site specific signatures along with prognostic survival models. Additive gene models, so far, have been reported in terms of survival signatures, whereas our study delinieates alive and dead signatures. Research groups have separately worked on whole exome and transcriptome studies but our study is one of the few instances where publicly available transcriptome data and inhouse sequenced exome data have been combined. We have identified a novel drugable driver gene IRAK1, which is known to modulate the immune system, with presence of an actionable mutation. This highlights the potential therapeutic value of IRAK1 and the mutation harboured by it.