Evidence map›Paper›PMID 32631391›Full record

ArticleGenome biology2020

Dysregulation of cancer genes by recurrent intergenic fusions.

Jae Won Yun, Lixing Yang, Hye-Young Park, Chang-Woo Lee, Hongui Cha, Hyun-Tae Shin, Ka-Won Noh, Yoon-La Choi, Woong-Yang Park, Peter J Park

Open access · goldAbstract read
In one paragraph

Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
3.4field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 50 citations in OpenAlex.

  1. Article
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  8. Case Report: A rareFrontiers in oncology · 2025
    Article
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  12. HYENA detects oncogenes activated by distal enhancers in cancer.bioRxiv : the preprint server for biology · 2024
    Article
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  14. Review
  15. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 2 countries.

Jae Won YunDepartment of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, South Korea.
Lixing YangDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Hye-Young ParkSamsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Suwon, Gyeonggi, South Korea.
Chang-Woo LeeSamsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Suwon, Gyeonggi, South Korea.
Hongui ChaDepartment of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, South Korea.
Hyun-Tae ShinDepartment of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, South Korea.
Ka-Won NohLaboratory of Cancer Genomics and Molecular Pathology, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea.
Yoon-La ChoiLaboratory of Cancer Genomics and Molecular Pathology, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea.
Woong-Yang ParkDepartment of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, South Korea. woongyang.park@samsung.com.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.ORCID 0000-0001-9378-960X
Samsung (South Korea) · KRHarvard University · USSamsung Medical Center · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGene fusions have been studied extensively, as frequent drivers of tumorigenesis as well as potential therapeutic targets. In many well-known cases, breakpoints occur at two intragenic positions, leading to in-frame gene-gene fusions that generate chimeric mRNAs. However, fusions often occur with intergenic breakpoints, and the role of such fusions has not been carefully examined.

resultsWe analyze whole-genome sequencing data from 268 patients to catalog gene-intergenic and intergenic-intergenic fusions and characterize their impact. First, we discover that, in contrast to the common assumption, chimeric oncogenic transcripts-such as those involving ETV4, ERG, RSPO3, and PIK3CA-can be generated by gene-intergenic fusions through splicing of the intervening region. Second, we find that over-expression of an upstream or downstream gene by a fusion-mediated repositioning of a regulatory sequence is much more common than previously suspected, with enhancers sometimes located megabases away. We detect a number of recurrent fusions, such as those involving ANO3, RGS9, FUT5, CHI3L1, OR1D4, and LIPG in breast; IGF2 in colon; ETV1 in prostate; and IGF2BP3 and SIX2 in thyroid cancers.

conclusionOur findings elucidate the potential oncogenic function of intergenic fusions and highlight the wide-ranging consequences of structural rearrangements in cancer genomes.

Indexed as

DNA, IntergenicGene Expression Regulation, NeoplasticOncogene FusionHomeodomain ProteinsHumansNeoplasmsNerve Tissue ProteinsRNA-Binding ProteinsDNA, IntergenicHomeodomain ProteinsIGF2BP3 protein, humanNerve Tissue ProteinsRNA-Binding ProteinsSIX2 protein, humanChimeric transcriptsEnhancer hijackingStructural variationsWhole-genome sequencing

Identifiers

PMID32631391
PMCPMC7339451
OpenAlexW3040019475

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.