ID

45530

Description

Principal Investigator: Priscilla Brastianos, Broad Institute, Cambridge, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000730 Brain metastases are the most frequently occurring intracranial tumors in adults. Median survival after the diagnosis of a brain metastasis is in the order of a few months. Despite its large burden of disease and devastating clinical sequelae, we continue to have a limited understanding of the molecular mechanisms driving brain metastasis. We subjected 86 trios consisting of primary tumor, brain metastasis, and matched normal tissue to whole exome sequencing (WES). To analyze the data, we developed novel computational tools to perform an integrative analysis of somatic single nucleotide variants (SSNVs) and somatic copy-number alterations (SCNAs). This analysis allowed us to estimate the clonal architecture of the primary and metastatic samples of each patient, and to reconstruct a phylogenetic tree relating all of the subclones.

Lien

dbGaP study = phs000730

Mots-clés

  1. 28/12/2022 28/12/2022 - Simon Heim
Détendeur de droits

Priscilla Brastianos, Broad Institute, Cambridge, MA, USA

Téléchargé le

28 décembre 2022

DOI

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Licence

Creative Commons BY 4.0

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dbGaP phs000730 Genomics of Brain Metastases

Subject - Consent Information

pht005058
Description

pht005058

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

SUBJID

Type de données

string

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

CONSENT

Type de données

text

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

Similar models

Subject - Consent Information

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005058
C3846158 (UMLS CUI [1,1])
SUBJID
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 (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Cancer Research and Methods) (DS-CRM) (2)
CL Item
General Research Use (NPU) (GRU-NPU) (3)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])

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