ID

45386

Descrição

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

Palavras-chave

  1. 11/11/2022 11/11/2022 - Simon Heim
Titular dos direitos

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

Transferido a

11 de novembro de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000602 Identification of Targetable FGFR Gene Fusions in Diverse Cancers

Sample ID, body site where sample was obtained, analyte type, tumor status of sample, cell line status, alias name of sample obtained from patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

pht003222
Descrição

pht003222

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Descrição

SAMPID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descrição

BODY_SITE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Descrição

ANALYTE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Descrição

IS_TUMOR

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475752
Cell line status
Descrição

IS_CELLLINE

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0085983
UMLS CUI [1,2]
C0449438
Alias name to sample
Descrição

SAMPLE_ALIAS

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0740885

Similar models

Sample ID, body site where sample was obtained, analyte type, tumor status of sample, cell line status, alias name of sample obtained from patients with advanced cancer of different localizations and involved in the "Identification of Targetable FGFR Gene Fusions in Diverse Cancers" project.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht003222
C3846158 (UMLS CUI [1,1])
SAMPID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
CL Item
Is Tumor (Y)
Item
Cell line status
text
C0085983 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
Code List
Cell line status
CL Item
not a cell line (N)
CL Item
Cell line (Y)
SAMPLE_ALIAS
Item
Alias name to sample
string
C1299222 (UMLS CUI [1,1])
C0740885 (UMLS CUI [1,2])

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