Systematic associations between germ-line mutations and human cancers
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Publication date
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
openAccessMetadata
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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