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Assessing aneuploidy with repetitive element sequencing.
Douville, Christopher; Cohen, Joshua D; Ptak, Janine; Popoli, Maria; Schaefer, Joy; Silliman, Natalie; Dobbyn, Lisa; Schoen, Robert E; Tie, Jeanne; Gibbs, Peter; Goggins, Michael; Wolfgang, Christopher L; Wang, Tian-Li; Shih, Ie-Ming; Karchin, Rachel; Lennon, Anne Marie; Hruban, Ralph H; Tomasetti, Cristian; Bettegowda, Chetan; Kinzler, Kenneth W; Papadopoulos, Nickolas; Vogelstein, Bert.
  • Douville C; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Cohen JD; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Ptak J; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Popoli M; Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287.
  • Schaefer J; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Silliman N; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Dobbyn L; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Schoen RE; Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287.
  • Tie J; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218.
  • Gibbs P; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Goggins M; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Wolfgang CL; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Wang TL; Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287.
  • Shih IM; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Karchin R; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Lennon AM; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Hruban RH; Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287.
  • Tomasetti C; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Bettegowda C; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Kinzler KW; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Papadopoulos N; Howard Hughes Medical Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287.
  • Vogelstein B; Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Proc Natl Acad Sci U S A ; 117(9): 4858-4863, 2020 03 03.
Article en En | MEDLINE | ID: mdl-32075918
ABSTRACT
We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect aneuploidy in samples containing as little as 3 pg of DNA. Using a single primer pair, we amplified ∼350,000 amplicons distributed throughout the genome. Aneuploidy was detected in 49% of liquid biopsies from a total of 883 nonmetastatic, clinically detected cancers of the colorectum, esophagus, liver, lung, ovary, pancreas, breast, or stomach. Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% in these eight cancer types, while only 1% of 812 healthy controls scored positive.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Aneuploidia / Neoplasias Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Aneuploidia / Neoplasias Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article