Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types
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Published version
Author(s)
Type
Journal Article
Abstract
Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer. We analyzed whole-exome sequencing data across 33 tumor types in The Cancer Genome Atlas (TCGA), and we identified 119 splicing factor genes with significant non-silent mutation patterns, including mutation over-representation, recurrent loss of function (tumor suppressor-like), or hotspot mutation profile (oncogene-like). Furthermore, RNA sequencing analysis revealed altered splicing events associated with selected splicing factor mutations. In addition, we were able to identify common gene pathway profiles associated with the presence of these mutations. Our analysis suggests that somatic alteration of genes involved in the RNA-splicing process is common in cancer and may represent an underappreciated hallmark of tumorigenesis.
Date Issued
2018-04-03
Date Acceptance
2018-01-29
Citation
Cell Reports, 2018, 23 (1), pp.282-296.e4
ISSN
2211-1247
Publisher
Elsevier
Start Page
282
End Page
296.e4
Journal / Book Title
Cell Reports
Volume
23
Issue
1
Copyright Statement
© 2018 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Sponsor
SAIC-F-Frederick, Inc
Leidos Biomedical Research, Inc.
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000429092900024&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Grant Number
TCGA Pilot Program
15Y011ST
Subjects
Science & Technology
Life Sciences & Biomedicine
Cell Biology
FAR UPSTREAM ELEMENT
U2AF1 MUTATIONS
MYELODYSPLASTIC SYNDROMES
EXPRESSION PROFILES
BREAST-CANCER
RNA-BINDING
C-MYC
SPLICEOSOME
SF3B1
GENOME
Publication Status
Published
Date Publish Online
2018-04-05