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

Sample ID and sample source of participants with prostate cancer.

pht002096
Beschrijving

pht002096

De-identified Subject's ID
Beschrijving

SUBJID

Datatype

text

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
De-identified Subject's ID
Beschrijving

SAMPID

Datatype

text

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Institute
Beschrijving

SAMP_SOURCE

Datatype

text

Alias
UMLS CUI [1,1]
C0021621
De-identified Subject's ID
Beschrijving

SOURCE_SAMPID

Datatype

text

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585

Similar models

Sample ID and sample source of participants with prostate cancer.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht002096
SUBJID
Item
De-identified Subject's ID
text
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
SAMPID
Item
De-identified Subject's ID
text
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Institute
text
C0021621 (UMLS CUI [1,1])
Code List
Institute
CL Item
Weill Cornell Medical College (WCMC)
SOURCE_SAMPID
Item
De-identified Subject's ID
text
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])

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