Work

MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis

Year: 2014

Type: article

Abstract: Many cancer genes form mutation hotspots that disrupt their functional domains or active sites, leading to gain- or loss-of-function. We propose a mutation set enrichment analysis (MSEA) implemented by two novel methods,MSEA-clust and MSEA-domain, to predict cancer genes based on mutation hotspot patterns. MSEA methods are evaluated by both simulated and real cancer data. We find approximately 51% of the eligible known cancer genes form detectable mutation hotspots. Application of MSEA in eight cancers reveals a total of 82 genes with mutation hotspots,including well-studied cancer genes, known cancer genes re-found in new cancer types, and novel cancer genes.

Source: Genome biology

DOI: 10.1186/preaccept-1822061407140231

Authors: Peilin Jia, Quan Wang, Qingxia Chen, Katherine E Hutchinson, William Pao, Zhongming Zhao

Institutions: Vanderbilt University, Vanderbilt University Medical Center, Vanderbilt-Ingram Cancer Center

Language: English

Topic: Cancer Genomics and Diagnostics

Subfield: Cancer Research

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $5,490