ID

45386

Beschrijving

Principal Investigator: Arul M. Chinnaiyan, MD, PhD, University of Michigan, MI, USA MeSH: Neoplasms,Cholangiocarcinoma,Breast Neoplasms,Prostatic Neoplasms,Urinary Bladder Neoplasms,Mouth Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000602 In this study, patients with advanced cancer across all histologies were enrolled in our IRB approved clinical sequencing program, called MI-ONCOSEQ, to go through an integrative sequencing which includes whole exome sequencing of the tumor and matched normal, and transcriptome sequencing. Four index cases were identified which harbor gene rearrangements of FGFR2 including two cholangiocarcinoma cases, a metastatic breast cancer case, and a metastatic prostate cancer case. After extending our assessment of FGFR rearrangements across multiple tumor cohorts, including TCGA, we identified FGFR gene fusions with intact kinase domains of FGFR1, FGFR2, or FGFR3 in cholangiocarcinoma, breast cancer, prostate cancer, lung squamous cell cancer, bladder cancer, thyroid cancer, oral cancer, glioblastoma, and head and neck squamous cell cancer. All FGFR fusion partners tested exhibit oligomerization capability, suggesting a shared mode of kinase activation. Overexpression of FGFR fusion proteins in vitro induced cell proliferation, and bladder cancer cell lines that harbors FGFR3 fusion proteins exhibited enhanced susceptibility to pharmacologic inhibition in vitro and in vivo. Due to the combinatorial possibilities of FGFR family fusion to a variety of oligomerization partners, clinical sequencing efforts which incorporate transcriptome analysis for gene fusions are poised to identify rare, targetable FGFR fusions across diverse cancer types.

Link

dbGaP study = phs000602

Trefwoorden

  1. 11-11-22 11-11-22 - Simon Heim
Houder van rechten

Arul M. Chinnaiyan, MD, PhD, University of Michigan, MI, USA

Geüploaded op

11 november 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000602 Identification of Targetable FGFR Gene Fusions in Diverse Cancers

Subject ID, consent group, subject source, subject source ID, affection status of patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

pht003220
Beschrijving

pht003220

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschrijving

CONSENT

Datatype

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1257890
Source repository where subjects originate
Beschrijving

SUBJ_SOURCE

Datatype

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Beschrijving

SOURCE_SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Case control status of the subject
Beschrijving

AFFECTION_STATUS

Datatype

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject ID, consent group, subject source, subject source ID, affection status of patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003220
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C1257890 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Disease-Specific (Cancer, MDS) (DS-CA-MDS) (1)
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C3274648 (UMLS CUI [1,1])
CL Item
Case (2)
C3274647 (UMLS CUI [1,1])
CL Item
Other (3)

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