Systematic associations between germ-line mutations and human cancers
KeywordGerm-line mutations; Human cancers; Gene mutations; Chromosomes; Pathways; Big data; Cancer mutation; Cancer map; Gene mutation interconnections; Gene mutation distribution; Bioinformatics
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AbstractThe revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using data obtained from multiple biological databases, we identified 424 genes from 8879 cancer mutation records. By integrating these gene mutation records a human cancer map was constructed from which several key results were obtained. These include the observations that missense/nonsense and regulatory mutations might play central role in connecting cancers/genes, and tend to be distributed in all chromosomes. This suggests that, of all mutation classes missense/nonsense and regulatory mutation classes are over-expressed in human genome and so are likely to have a significant impact on human cancer aetiology and pathomechanism. This offers new insights into how the distribution and interconnections of gene mutations influence the development of cancers.
CitationAl-Shammari M, Tobin DJ and Peng Y (2016) Systematic associations between germ-line mutations and human cancers. International Journal of Computational Biology and Drug Design. 9(1-2): 135-148.
Link to publisher’s versionhttp://www.inderscienceonline.com/doi/abs/10.1504/IJCBDD.2016.074980
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