ID

45386

Description

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

Keywords

  1. 11/11/22 11/11/22 - Simon Heim
Copyright Holder

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

Uploaded on

November 11, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000602 Identification of Targetable FGFR Gene Fusions in Diverse Cancers

Subject ID, sample ID, sample source, sample source ID, and sample use of samples obtained from patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

pht003221
Description

pht003221

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

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Description

SAMP_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
Sample ID used in the Source Repository
Description

SOURCE_SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample Use
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject ID, sample ID, sample source, sample source ID, and sample use of samples obtained from 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)
Data type
Alias
Item Group
pht003221
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
SOURCE_SAMPID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
SAMPLE_USE
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])

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