Driver Fusions and Their Implications in the Development and Treatment of Human Cancers
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Published version
Author(s)
Type
Journal Article
Abstract
Gene fusions represent an important class of somatic alterations in cancer. We systematically investigated fusions in 9,624 tumors across 33 cancer types using multiple fusion calling tools. We identified a total of 25,664 fusions, with a 63% validation rate. Integration of gene expression, copy number, and fusion annotation data revealed that fusions involving oncogenes tend to exhibit increased expression, whereas fusions involving tumor suppressors have the opposite effect. For fusions involving kinases, we found 1,275 with an intact kinase domain, the proportion of which varied significantly across cancer types. Our study suggests that fusions drive the development of 16.5% of cancer cases and function as the sole driver in more than 1% of them. Finally, we identified druggable fusions involving genes such as TMPRSS2, RET, FGFR3, ALK, and ESR1 in 6.0% of cases, and we predicted immunogenic peptides, suggesting that fusions may provide leads for targeted drug and immune therapy.
Date Issued
2018-04-03
Date Acceptance
2018-03-13
Citation
Cell Reports, 2018, 23 (1), pp.227-238
ISSN
2211-1247
Publisher
Elsevier
Start Page
227
End Page
238
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:000429092900020&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Grant Number
TCGA Pilot Program
15Y011ST
Subjects
Science & Technology
Life Sciences & Biomedicine
Cell Biology
SQUAMOUS-CELL CARCINOMA
GENOMIC CHARACTERIZATION
MYELOID-LEUKEMIA
BREAST-CANCER
BCR-ABL
GENES
TUMORS
LANDSCAPES
MUTATIONS
PATHWAYS
Publication Status
Published
Date Publish Online
2018-04-05