Article: Systematic associations between germ-line mutations and human cancers Journal: International Journal of Computational Biology and Drug Design (IJCBDD) 2016 Vol.9 No.1/2 pp.135 - 148 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. Inderscience Publishers - linking academia, business and industry through research

Title: Systematic associations between germ-line mutations and human cancers

Authors: Mohamad Al-Shammari; Desmond J. Tobin; Yonghong Peng

Addresses: Faculty of Engineering and Informatics, School of Electrical Engineering and Computer Science, University of Bradford, Bradford, West Yorkshire, BD7 1DP, UK ' Centre for Skin Sciences, Faculty of Life Sciences, University of Bradford, Bradford, West Yorkshire, BD7 1DP, UK ' Faculty of Engineering and Informatics, School of Electrical Engineering and Computer Science, University of Bradford, Bradford, West Yorkshire, BD7 1DP, UK

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.

Keywords: germ-line mutations; human cancers; gene mutations; chromosomes; pathways; big data; cancer mutation; cancer map; gene mutation interconnections; gene mutation distribution; bioinformatics.

DOI: 10.1504/IJCBDD.2016.074980

International Journal of Computational Biology and Drug Design, 2016 Vol.9 No.1/2, pp.135 - 148

Published online: 28 Feb 2016 *

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Title: Systematic associations between germ-line mutations and human cancers

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