ID

45891

Beschreibung

Principal Investigator: Carl Morrison, MD, DVM, Roswell Park Cancer Institute, Buffalo, NY, USA MeSH: Granular Cell Tumor https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000978 We report one case study of a malignant granular cell tumor patient with metabolic response to pazopanib. In this study, we used whole-genome sequencing of the tumor with the matched blood to characterize the somatic mutation profile in this tumor. This is the first reported whole-genome sequencing study of the rare malignant granular cell tumor.

Link

dbGaP study = phs000978

Stichworte

  1. 01.12.23 01.12.23 - Simon Heim
Rechteinhaber

Carl Morrison, MD, DVM, Roswell Park Cancer Institute, Buffalo, NY, USA

Hochgeladen am

1. Dezember 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000978 WGS of a malignant GCT with metabolic response to pazopanib

Subject ID, consent group, subject source, source subject ID, and affection status of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.

pht004941
Beschreibung

pht004941

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

SUBJECT_ID

Datentyp

string

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

CONSENT

Datentyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Source repository where subjects originate
Beschreibung

SUBJECT_SOURCE

Datentyp

string

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

SOURCE_SUBJECT_ID

Datentyp

string

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

AFFECTION_STATUS

Datentyp

text

Alias
UMLS CUI [1,1]
C3274646

Ähnliche Modelle

Subject ID, consent group, subject source, source subject ID, and affection status of participant with malignant granular cell tumor and involved in the "Whole-Genome Sequencing (WGS) of a Malignant Granular Vell Tumor (GCT) with Metabolic Response to Pazopanib" project.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht004941
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
General Research Use (PUB, NPU) (GRU-PUB-NPU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJECT_ID
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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