Prioritisation of non-coding somatic mutations in cancer

Files in This Item:
File Description SizeFormat 
Piraino_ucd_5090N_10149.pdf6.47 MBAdobe PDFDownload
Title: Prioritisation of non-coding somatic mutations in cancer
Authors: Piraino, Scott William
Advisor: Furney, Simon J
Permanent link:
Date: 2017
Abstract: The identification of somatic mutations that play a causal role in tumour development, so called “driver” mutations, is of critical importance for understanding how cancers form and how they might be treated. Several large whole exome sequencing projects have identified genes that are recurrently mutated in cancer patients, indicating a possible causal role in tumourogenesis. While the landscape of coding drivers has been extensively studied and many of the most prominent driver genes are well characterised, comparatively less is known about what driver mutations may reside in the non-coding regions of the genome. Using mutations identified in over 1300 whole cancer genomes, I have identified regions, both coding and non-coding, that are recurrent targets of somatic mutations in cancer. Using both recurrence and information on evolutionary conservation to score regions of the genome as potential driver mutations, I have identified putative driver regions that include both well known drivers as well as novel recurrently mutated regions.
Type of material: Master Thesis
Publisher: University College Dublin. School of Medicine  
Qualification Name: M.Sc.
Copyright (published version): 2017 the author
Keywords: Cancer genome sequencingMutational hotspotsNon-coding mutations
Language: en
Status of Item: Peer reviewed
Appears in Collections:Medicine Theses

Show full item record

Download(s) 50

checked on May 25, 2018

Google ScholarTM


This item is available under the Attribution-NonCommercial-NoDerivs 3.0 Ireland. No item may be reproduced for commercial purposes. For other possible restrictions on use please refer to the publisher's URL where this is made available, or to notes contained in the item itself. Other terms may apply.