Several initiatives have led to the establishment of well-annotated, comprehensive databases of genomic, transcriptomic, epigenomic and proteomic analyses. Exploring such databases can provide insights into ongoing research as well as help formulate hypotheses. We carry out research in systems biology using bioinformatic tools and data mining approaches using information available. A recent study that we undertook focussed on the role of CASP8 mutations in carcinomas.
Role of CASP8 Mutations in Carcinomas
Sequencing studies across multiple cancers continue to reveal the spectrum of mutations and genes involved in the pathobiology of cancers. CASP8 mutations are observed in several carcinomas, notable among them are Head and Neck Squamous Cell Carcinomas (HNSCs) which are common among tobacco-chewing populations, and Uterine Corpus Endometrial Carcinoma (UCEC). Caspase-8, the protease encoded by the CASP8 gene, plays a dual role in programmed cell death, which in turn has an important role in tumor cell death and drug resistance. Caspase-8 is a protease required for the extrinsic pathway of apoptosis and is also a negative regulator of necroptosis. Using bioinformatics approaches to mine data in The Cancer Genome Atlas, we compared the molecular features and survival of these carcinomas with and without CASP8 mutations. Our studies show an interesting correlation between CASP8 mutation, immune response and prognosis in carcinomas. For details, see our manuscript published in PeerJ.
1.*Ghanekar Y, *Sadasivam S. 2019. In silico analysis reveals a shared immune signature in CASP8-mutated carcinomas with varying correlations to prognosis. PeerJ 7:e6402 https://doi.org/10.7717/peerj.6402