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A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decay

Abstract:
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. Although NMD-induced loss-of-function has been shown to contribute to the genesis of particular cancers, its global functional consequence in tumours has not been characterized. Here we develop an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas. We identify more than 73 K mutations that are predicted to elicit NMD (NMD-elicit). NMD-elicit mutations in tumour suppressor genes (TSGs) are associated with significant reduction in gene expression. We discover cancer-specific NMD-elicit signatures in TSGs and cancer-associated genes. Our analysis reveals a previously unrecognized dependence of hypermutated tumours on hypofunction of genes that are involved in chromatin remodelling and translation. Half of hypermutated stomach adenocarcinomas are associated with NMD-elicit mutations of the translation initiators LARP4B and EIF5B. Our results unravel strong therapeutic opportunities by targeting tumour dependencies on NMD-elicit mutations.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ncomms15943

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy & Genetics
Role:
Author
ORCID:
0000-0002-1688-6032
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Obstetrics & Gynaecology
Oxford college:
St Hugh's College
Role:
Author


More from this funder
Funding agency for:
Yau, C
Grant:
090532/Z/09/Z
More from this funder
Funding agency for:
Yau, C
Grant:
090532/Z/09/Z
G0902418
More from this funder
Funding agency for:
Hu, Z
Grant:
GAF1516_CSCUO_839316


Publisher:
Nature Publishing Group
Journal:
Nature Communications More from this journal
Volume:
8
Pages:
1-9
Publication date:
2017-06-26
Acceptance date:
2017-05-15
DOI:
ISSN:
2041-1723
Pmid:
28649990


Language:
English
Keywords:
Pubs id:
pubs:702313
UUID:
uuid:a0cd9820-9f98-4b71-9d6c-8b3f09c62510
Local pid:
pubs:702313
Source identifiers:
702313
Deposit date:
2017-12-19

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