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Exome sequencing of oral squamous cell carcinoma in users of Arabian snuff reveals novel candidates for driver genes.


ABSTRACT: The study sought to identify genetic aberrations driving oral squamous cell carcinoma (OSCC) development among users of shammah, an Arabian preparation of smokeless tobacco. Twenty archival OSCC samples, 15 of which with a history of shammah exposure, were whole-exome sequenced at an average depth of 127×. Somatic mutations were identified using a novel, matched controls-independent filtration algorithm. CODEX and Exomedepth coupled with a novel, Database of Genomic Variant-based filter were employed to call somatic gene-copy number variations. Significantly mutated genes were identified with Oncodrive FM and the Youn and Simon's method. Candidate driver genes were nominated based on Gene Set Enrichment Analysis. The observed mutational spectrum was similar to that reported by the TCGA pro

SUBMITTER: Al-Hebshi NN 

PROVIDER: S-EPMC5821466 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature