ID

45164

Beschrijving

Principal Investigator: Mark A. Rubin, Weill Cornell Medical College, New York, NY, USA MeSH: Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000310 Half of prostate cancers harbor gene fusions between *TMPRSS2* and members of the *ETS* transcription factor family. To date little is known about the presence of non-ETS fusion events in prostate cancer. We employed next-generation transcriptome sequencing (RNA-Seq) in order to explore the whole transcriptome of 25 human prostate cancer samples for the presence of chimeric fusion transcripts. We generated more than 1 billion sequence reads and used a novel computational approach (FusionSeq) in order to identify novel gene fusion candidates with high confidence. In total, we discovered and characterized seven new cancer-specific gene fusions, two involving the ETS genes *ETV1* and *ERG*, and five involving non-ETS genes such as *CDKN1A* (p21), *CD9* and *IKBKB* (IKK-beta), genes known to exhibit key biological roles in cellular homeostasis or assumed to be critical in tumorigenesis of other tumor entities, as well as the oncogene PIGU and the tumor suppressor gene *RSRC2*. The novel gene fusions are found to be of low frequency but interestingly, the non-ETS fusions were all present in prostate cancer harboring the *TMPRSS2-ERG* gene fusion. Future work will focus on determining if the ETS rearrangements in prostate cancer are associated or directly predispose to a rearrangement prone phenotype.

Link

dbGaP study = phs000310

Trefwoorden

  1. 25-08-22 25-08-22 - Simon Heim
  2. 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten

Mark A. Rubin, Weill Cornell Medical College, New York, NY, USA

Geüploaded op

12 oktober 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000310 Discovery of Non-ETS Gene Fusions using RNA Sequencing

Eligibility Criteria

Inclusion and exclusion criteria
Beschrijving

Inclusion and exclusion criteria

Prostate tissue was obtained by robotic prostatectomy.
Beschrijving

Prostate tissue was obtained by robotic prostatectomy.

Datatype

boolean

Alias
UMLS CUI [1,1]
C0586597
UMLS CUI [1,2]
C2922133
UMLS CUI [1,3]
C1512693

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Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
Prostate tissue was obtained by robotic prostatectomy.
Item
Prostate tissue was obtained by robotic prostatectomy.
boolean
C0586597 (UMLS CUI [1,1])
C2922133 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,3])

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