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Systematic associations between germ-line mutations and human cancers
by Mohamad Al-Shammari; Desmond J. Tobin; Yonghong Peng
International Journal of Computational Biology and Drug Design (IJCBDD), Vol. 9, No. 1/2, 2016


Abstract: 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.

Online publication date: Fri, 26-Feb-2016


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