ID

45516

Descripción

Principal Investigator: Christopher Love, Massachusetts Institute of Technology, Cambridge, MA, USA MeSH: Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000717 Comprehensive analyses of cancer genomes in clinical settings promise to inform prognoses and guide the deployment of precise cancer treatments. A major barrier, however, is the inaccessibility of adequate metastatic tissue for accurate genomic analysis in prostate and other cancers. A potential solution is to characterize circulating tumor cells (CTCs), but this requires overcoming multiple technical hurdles. Here, we report an integrated process to isolate, qualify, and sequence whole exomes of CTCs with high fidelity, using a census-based sequencing strategy. Power calculations suggest that mapping of over 99.995% of the territory accessible in bulk exome sequencing is possible in CTCs. We validated our sequencing process in two prostate cancer patients including one for whom we compared CTC-derived mutations to mutations found in a lymph node metastasis and nine cores of the primary tumor. 51 of 73 CTC mutations (70%) were observed in matched tissue. Moreover, we identified 10 early trunk mutations and 56 metastatic trunk mutations in the non-CTC tumor samples and found 90% and 73% of these, respectively, in CTC exomes. This study establishes a foundation for CTC genomics in the clinic.

Link

dbGaP study = phs000717

Palabras clave

  1. 13/12/22 13/12/22 - Simon Heim
Titular de derechos de autor

Christopher Love, Massachusetts Institute of Technology, Cambridge, MA, USA

Subido en

13 de diciembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000717 Genomics of Circulating Tumor Cells

Subject ID and consent group of participants with prostate cancer and involved in the "Genomics of Circulating Tumor Cells".

pht003808
Descripción

pht003808

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

SUBJID

Tipo de datos

string

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

CONSENT

Tipo de datos

text

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

Similar models

Subject ID and consent group of participants with prostate cancer and involved in the "Genomics of Circulating Tumor Cells".

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht003808
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
Disease-Specific (Prostate Cancer, MDS) (DS-PC-MDS) (1)

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