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Finally, we identified 144,400 somatic mutations in all samples and 70,472 of them passed all three filters (Table 2), and both patients showed a significant excess of somatic mutations in tumors (P < 2 × 10-16 for patient 33 and P = 5.6 × 10-6 for patient 51, chi-square test), which is expected.
Since the major determinant in oral cancers is the accumulation of genomic instability [ 31], and no obvious evidence was observed in radical mutations or gene expression, it is possible that the excess of somatic mutations in GTF2H5 may influence post-transcriptional regulation and correlate with tumor development.
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However, no such somatic mutations have been reported of the gene in the Catalogue of Somatic Mutations in Cancer – COSMIC database.
Carter, H. et al. Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.
Pleasance, E. D. et al. A comprehensive catalogue of somatic mutations from a human cancer genome.
Alternatively, autoimmune diseases may facilitate the acquisition of somatic mutations in lymphocytes.
Tran, E. et al. Immunogenicity of somatic mutations in human gastrointestinal cancers.
Ding, J. et al. Systematic analysis of somatic mutations impacting gene expression in 12 tumour types.
Forbes, S.A. et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
This is an indication that a high number of somatic mutations affect the cell function.
Hodgkinson, A., Chen, Y. & Eyre-Walker, A. The large-scale distribution of somatic mutations in cancer genomes.
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