Journal
NPJ PRECISION ONCOLOGY
Volume 6, Issue 1, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41698-022-00306-3
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Funding
- Isabella Kerr Molina Foundation
- National Cancer Institute
- National Institutes of Health [HHSN261200800001E]
- Smashing Walnuts Foundation (Middleburg, VA)
- V Foundation (Atlanta, GA)
- Gabriella Miller Kids First Data Resource Center, Clinical and Translational Science Institute at Children's National [5UL1TR001876-03]
- Matthew Larson Foundation (Franklin Lake, NJ)
- Lilabean Foundation for Pediatric Brain Cancer Research (Silver Spring, MD)
- Kortney Rose Foundation (Oceanport, NJ)
- Swifty Foundation (Woodridge, IL)
- Michael Mosier Defeat DIPG Foundation (Bethesda, MD)
- Swiss National Science Fund (SNSF)
- Pediatric Brain Tumor Foundation (PBTF) (Asheville, NC)
- Pediatric Cancer Research Foundation (Irvine, CA)
- Kisses 4 Kayla Foundation
- Brad Kaminsky Foundation
- We Love You Connie Foundation (Toronto, CA)
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In this paper, we present a targeted deep sequencing platform for liquid biopsy samples of childhood CNS tumors. It can detect tumor driver mutations, copy number variations, and heterogeneity, and has minimal invasiveness. This platform has clinical relevance in tumor mutation profiling in children diagnosed with CNS cancer.
Molecular profiling of childhood CNS tumors is critical for diagnosis and clinical management, yet tissue access is restricted due to the sensitive tumor location. We developed a targeted deep sequencing platform to detect tumor driver mutations, copy number variations, and heterogeneity in the liquid biome. Here, we present the sensitivity, specificity, and clinical relevance of our minimally invasive platform for tumor mutation profiling in children diagnosed with CNS cancer.
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