Systematic associations between germ-line mutations and human cancers
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2016Keyword
Germ-line mutationsHuman cancers
Gene mutations
Chromosomes
Pathways
Big data
Cancer mutation
Cancer map
Gene mutation interconnections
Gene mutation distributionBioinformatics
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© 2016 Inderscience Enterprises Ltd. Reproduced in accordance with the publisher's self-archiving policy.Peer-Reviewed
YesOpen Access status
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Show full item recordAbstract
The 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.Version
Accepted manuscriptCitation
Al-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 Version of Record
https://doi.org/10.1504/IJCBDD.2016.074980Type
ArticleScopus Count
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