Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

ABSTRACT:

Background

The key to interpreting the contribution of a disease-associated mutation in the development and progression of cancer is an understanding of the consequences of that mutation both on the function of the affected protein and on the pathways in which that protein is involved. Protein domains encapsulate function and position-specific domain based analysis of mutations have been shown to help elucidate their phenotypes.

Results

In this paper we examine the domain biases in oncogenes and tumour suppressors, and find that their domain compositions substantially differ. Using data from over 30 different cancers from whole-exome sequencing cancer genomic projects we mapped over one million mutations to their respective Pfam domains to identify which domains are enriched

SUBMITTER: Baeissa H 

PROVIDER: S-EPMC5400584 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature