Al-Shammari, Mohamad H.Tobin, Desmond J.Peng, Yonghong2017-03-312017-03-312016Al-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.http://hdl.handle.net/10454/11744YesThe 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.en© 2016 Inderscience Enterprises Ltd. Reproduced in accordance with the publisher's self-archiving policy.Germ-line mutationsHuman cancersGene mutationsChromosomesPathwaysBig dataCancer mutationCancer mapGene mutation interconnectionsGene mutation distributionBioinformaticsArticlehttps://doi.org/10.1504/IJCBDD.2016.074980Unspecified