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

Subject age, height, demography, tumor stage and Gleason score of participants with prostate cancer.

pht002097
Beschrijving

pht002097

De-identified Subject's ID
Beschrijving

SUBJID

Datatype

text

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Case or control [cases]
Beschrijving

case_control

Datatype

text

Alias
UMLS CUI [1,1]
C3274646
Age in years
Beschrijving

age

Datatype

text

Alias
UMLS CUI [1,1]
C0001779
Height in feet
Beschrijving

height

Datatype

text

Alias
UMLS CUI [1,1]
C0005890
Place of birth
Beschrijving

birthplace

Datatype

text

Alias
UMLS CUI [1,1]
C0032040
Gender of participant
Beschrijving

sex

Datatype

text

Alias
UMLS CUI [1,1]
C0079399
Time interval of drug use
Beschrijving

TimeIntDrug

Datatype

text

Alias
UMLS CUI [1,1]
C0872371
Family history
Beschrijving

family history

Datatype

text

Alias
UMLS CUI [1,1]
C0241889
Gleason Score
Beschrijving

Gleason score

Datatype

text

Alias
UMLS CUI [1,1]
C3203027
Stage of Tumor
Beschrijving

Tumor stage

Datatype

text

Alias
UMLS CUI [1,1]
C1300072
Preoperative PSA [ng/ml]
Beschrijving

PSA

Datatype

text

Alias
UMLS CUI [1,1]
C0138741
UMLS CUI [1,2]
C0445204

Similar models

Subject age, height, demography, tumor stage and Gleason score of participants with prostate cancer.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht002097
SUBJID
Item
De-identified Subject's ID
text
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Case or control [cases]
text
C3274646 (UMLS CUI [1,1])
Code List
Case or control [cases]
CL Item
Not applicable (N/A)
age
Item
Age in years
text
C0001779 (UMLS CUI [1,1])
Item
Height in feet
text
C0005890 (UMLS CUI [1,1])
Code List
Height in feet
CL Item
Not available (N/A)
Item
Place of birth
text
C0032040 (UMLS CUI [1,1])
Code List
Place of birth
CL Item
United States of America (USA)
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Female (F)
CL Item
Male (M)
Item
Time interval of drug use
text
C0872371 (UMLS CUI [1,1])
Code List
Time interval of drug use
CL Item
Not applicable (N/A)
Item
Family history
text
C0241889 (UMLS CUI [1,1])
Code List
Family history
CL Item
Prostate Cancer (cancer)
Gleason score
Item
Gleason Score
text
C3203027 (UMLS CUI [1,1])
Item
Stage of Tumor
text
C1300072 (UMLS CUI [1,1])
Code List
Stage of Tumor
CL Item
Tumor affects both lobes (pT2c)
CL Item
Tumor extends beyond the prostate capsule (pT3a)
CL Item
Tumor invades seminal vesicle(s) (pT3b)
PSA
Item
Preoperative PSA [ng/ml]
text
C0138741 (UMLS CUI [1,1])
C0445204 (UMLS CUI [1,2])

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