ID

46151

Descrizione

Principal Investigator: Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Rhabdomyosarcoma,Rhabdomyosarcoma, Alveolar,Rhabdomyosarcoma, Embryonal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000720 Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood accounting for approximately 350 newly diagnosed cases yearly in the United States. With the development of multimodal chemotherapy regimens, relapse-free survival rates have improved to 70-80% in patients with localized disease albeit with significant toxicity. Unfortunately, despite aggressive treatment, patients with metastatic or recurrent disease continue to suffer from high mortality. Further characterization of the genetic events underlying this tumor type is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. In a collaborative effort between the National Cancer Institute, the Children's Oncology Group, and the Broad Institute, we use a combination of whole-genome and whole-exome sequencing to characterize the landscape of somatic alterations in 147 tumor/normal pairs.

collegamento

dbGaP study=phs000720

Keywords

  1. 14/12/22 14/12/22 - Simon Heim
  2. 29/01/25 29/01/25 - Akane Nishihara
Titolare del copyright

Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA

Caricato su

29 gennaio 2025

DOI

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Licenza

Creative Commons BY 4.0

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dbGaP phs000720 Genomic sequencing of Pediatric Rhabdomyosarcoma

Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.

pht003878
Descrizione

pht003878

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

SUBJECT_ID

Tipo di dati

string

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

CONSENT

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Sex
Descrizione

SEX

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0079399

Similar models

Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht003878
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, MDS) (GRU-PUB-MDS) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Cancer, MDS) (DS-CA-MDS) (2)
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Code List
Sex
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])

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