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Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types

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Title: Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types
Authors: Seiler, M
Peng, S
Agrawal, AA
Palacino, J
Teng, T
Zhu, P
Smith, PG
Buonamici, S
Yu, L
Item 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.
Issue Date: 3-Apr-2018
Date of Acceptance: 29-Jan-2018
URI: http://hdl.handle.net/10044/1/71245
DOI: https://doi.org/10.1016/j.celrep.2018.01.088
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/Funder: SAIC-F-Frederick, Inc
Leidos Biomedical Research, Inc.
Funder's Grant Number: TCGA Pilot Program
15Y011ST
Keywords: 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
FUBP1
RBM10
SF3B1
SRSF2
U2AF1
cancer
mutation
splicing
Cancer Genome Atlas Research Network
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
Open Access location: https://www.cell.com/cell-reports/fulltext/S2211-1247(18)30152-9?_returnURL=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124718301529%3Fshowall%3Dtrue
Online Publication Date: 2018-04-05
Appears in Collections:Department of Surgery and Cancer