Identification of novel genetic variations in oral squamous cell carcinoma using exome sequencing

8^th Euro Global Summit on Cancer Therapy

November 03-05, 2015 Valencia, Spain

Jesinda P Kerishnan and Yeng Chen

University of Malaya, Malaysia

Posters-Accepted Abstracts: J Cancer Sci Ther

Abstract :

Oral squamous cell carcinoma (OSCC) is the most common cancer of the oral cavity representing 90% of malignancy. The exact mechanism involved in this oral carcinogenesis remains unknown. Therefore, a detailed study to identify targeted specific gene changes in oral cancer is essential to provide a better understanding on the molecular events that underlies the progression and development of OSCC. Our research focuses on the identification of novel genetic variations in OSCC through the use of Whole Exome Sequencing (WES) on a cohort of ethnically diverse OSCC population. WES was performed on pairs of tumor and normal adjacent tissue from 10 OSCC patients (84.6% female; average age of 57.0�±11.7 years) using Agilent Sure Select Human All Exome 71M for enrichment and sequenced through high throughput sequencing using Illimuna HiSeq 2000 platform. This was followed by variant alignment to the NCBI human genome build 37 (Hg19) and annotation/classification using ANNOVAR. Through bioinformatics analysis, a total of 4,348 potential novel sequence variation/mutations were identified, of which 1,071 were nonsynonymous. In addition to the previously identified HNSCC and OSCC genes (TP53, NOTHC1, FAT1 and CASP8), the annotation of our data to COSMIC and Oral Cancer Gene Database revealed additional novel gene variations that has not been previously implicated in OSCC. The identified genes were further compared with the protein profile obtained through Label Free LC-MS. Our results had successfully identified novel genetic variants in OSCC, which could provide critical insights into OSCC carcinogenesis and the mechanisms involved in the cancer therapies.

Biography :

Email: jesindapaul@yahoo.co.uk