ID

46151

Descrição

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.

Link

dbGaP study=phs000720

Palavras-chave

  1. 14/12/2022 14/12/2022 - Simon Heim
  2. 29/01/2025 29/01/2025 - Akane Nishihara
Titular dos direitos

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

Transferido a

29 de janeiro de 2025

DOI

Para um pedido faça login.

Licença

Creative Commons BY 4.0

Comentários do modelo :

Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.

Comentários do grupo de itens para :

Comentários do item para :


Sem comentários

Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.

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
Descrição

pht003878

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

SUBJECT_ID

Tipo de dados

string

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

CONSENT

Tipo de dados

text

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

SEX

Tipo de dados

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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])

Use este formulário para feedback, perguntas e sugestões de aperfeiçoamento.

Campos marcados com * são obrigatórios.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial