Systematic associations between germ-line mutations and human cancers

Autor:	Al-Shammari, Mohamad H., Tobin, Desmond J., Peng, Yonghong
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Germ-line mutations Human cancers Gene mutations Chromosomes Pathways Big data Cancer mutation Cancer map Gene mutation interconnections Gene mutation distribution Bioinformatics
Druh dokumentu:	Článek
DOI:	10.1504/IJCBDD.2016.074980
Popis:	Yes 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.
Databáze:	Networked Digital Library of Theses & Dissertations
Externí odkaz:	http://hdl.handle.net/10454/11744 Zobrazit plný text záznamu