@article{459010e307f340a2a3c2b7c973cbb928,
title = "Detection of circulating tumor DNA in patients with osteosarcoma",
abstract = "Identification and quantification of somatic alterations in plasma-derived, circulating tumor DNA (ctDNA) is gaining traction as a non-invasive and cost effective method of disease monitoring in cancer patients, particularly to evaluate response to treatment and monitor for disease recurrence. To our knowledge, genetic analysis of ctDNA in osteosarcoma has not yet been studied. To determine whether somatic alterations can be detected in ctDNA and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Next Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma. We demonstrate that patient-specific somatic alterations identified through comparison of tumor-germline pairs can be detected and quantified in cell-free DNA of osteosarcoma patients.",
keywords = "Circulating tumor DNA, Next Generation Sequencing, Osteosarcoma, Targeted sequencing, Targeted therapy",
author = "Barris, {David M.} and Weiner, {Shoshana B.} and Dubin, {Robert A.} and Michael Fremed and Xusheng Zhang and Sajida Piperdi and Wendong Zhang and Shahina Maqbool and Jonathan Gill and Michael Roth and Bang Hoang and David Geller and Richard Gorlick and Weiser, {Daniel A.}",
note = "Funding Information: Support for this study was provided by: 1) The New York Community Trust (RG, DW); 2) The Senior Research Fellowship from the Albert Einstein College of Medicine Office of Medical Research (DB, SW, MF), and 3) a CTSA Catalytic Seed Grant UL1 TR001073 (DW) from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Funding Information: Support for this study was provided by: 1) The New York Community Trust (RG, DW); 2) The Senior Research Fellowship from the Albert Einstein College of Medicine Office of Medical Research (DB, SW, MF), and 3) a CTSA Catalytic Seed Grant UL1 TR001073 (DW) from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health Publisher Copyright: {\textcopyright} Barris et al.",
year = "2018",
doi = "10.18632/oncotarget.24268",
language = "English (US)",
volume = "9",
pages = "12695--12704",
journal = "Oncotarget",
issn = "1949-2553",
publisher = "Impact Journals",
number = "16",
}
