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Cell free circulating cancer DNA

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https://www.readbyqxmd.com/read/28525906/copy-number-variations-of-circulating-cell-free-dna-in-urothelial-carcinoma-of-the-bladder-patients-treated-with-radical-cystectomy-a-prospective-study
#1
Armin Soave, Felix K-H Chun, Timo Hillebrand, Michael Rink, Lars Weisbach, Bettina Steinbach, Margit Fisch, Klaus Pantel, Heidi Schwarzenbach
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various commercial extraction kits. Eighteen probes served as reference to control denaturation, ligation and amplification efficiency...
May 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28522829/somatic-tumor-mutations-detected-by-targeted-next-generation-sequencing-in-minute-amounts-of-serum-derived-cell-free-dna
#2
Marjolein J A Weerts, Ronald van Marion, Jean C A Helmijr, Corine M Beaufort, Niels M G Krol, Anita M A C Trapman-Jansen, Winand N M Dinjens, Stefan Sleijfer, Maurice P H M Jansen, John W M Martens
The use of blood-circulating cell-free DNA (cfDNA) as 'liquid-biopsy' is explored worldwide, with hopes for its potential in providing prognostic or predictive information in cancer treatment. In exploring cfDNA, valuable repositories are biobanks containing material collected over time, however these retrospective cohorts have restrictive resources. In this study, we aimed to detect tumor-specific mutations in only minute amounts of serum-derived cfDNA by using a targeted next generation sequencing (NGS) approach...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28515105/free-circulating-methylated-dna-in-blood-for-diagnosis-staging-prognosis-and-monitoring-of-head-and-neck-squamous-cell-carcinoma-patients-an-observational-prospective-cohort-study
#3
Andreas Schröck, Annette Leisse, Luka de Vos, Heidrun Gevensleben, Freya Dröge, Alina Franzen, Malin Wachendörfer, Friederike Schröck, Joerg Ellinger, Marcus Teschke, Timo Wilhelm-Buchstab, Jennifer Landsberg, Stefan Holdenrieder, Gunther Hartmann, John K Field, Friedrich Bootz, Glen Kristiansen, Dimo Dietrich
BACKGROUND: Circulating cell-free DNA methylation testing in blood has recently received regulatory approval for screening of colorectal cancer. Its application in other clinical settings, including staging, prognosis, prediction, and recurrence monitoring is highly promising, and of particular interest in head and neck squamous cell carcinomas (HNSCC) that represent a heterogeneous group of cancers with unsatisfactory treatment guidelines. METHODS: Short stature homeobox 2 (SHOX2) and septin 9 (SEPT9) DNA methylation in plasma from 649 prospectively enrolled patients (training study: 284 HNSCC/122 control patients; testing study: 141 HNSCC/102 control patients) was quantified before treatment and longitudinally during surveillance...
May 17, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28506684/study-of-preanalytic-and-analytic-variables-for-clinical-next-generation-sequencing-of-circulating-cell-free-nucleic-acid
#4
Meenakshi Mehrotra, Rajesh R Singh, Wei Chen, Richard S P Huang, Alaa A Almohammedsalim, Bedia A Barkoh, Crystal M Simien, Marcos Hernandez, Carmen Behrens, Keyur P Patel, Mark J Routbort, Russell R Broaddus, L Jeffrey Medeiros, Ignacio I Wistuba, Scott Kopetz, Rajyalakshmi Luthra
Detection of mutations in plasma circulating cell-free DNA (cfDNA) by next-generation sequencing (NGS) has opened up new possibilities for monitoring treatment response and disease progression in patients with solid tumors. However, implementation of cfDNA genotyping in diagnostic laboratories requires systematic assessment of preanalytical parameters and analytical performance of NGS platforms. We assessed the effects of peripheral blood collection tube and plasma separation time on cfDNA yield and integrity and performance of the Ion PGM, Proton, and MiSeq NGS platforms...
May 12, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28500844/cell-free-circulating-dna-integrity-is-an-independent-predictor-of-impending-breast-cancer-recurrence
#5
Jie Cheng, Katarina Cuk, Jörg Heil, Michael Golatta, Sarah Schott, Christof Sohn, Andreas Schneeweiss, Barbara Burwinkel, Harald Surowy
Non-invasive blood-based molecule markers are evaluated as promising biomarkers these days. Here we investigated the potential of cell-free circulating DNA Integrity (cfDI) as blood-based marker for the prediction of recurrence during the follow-up of breast cancer patients within a prospective study cohort. cfDI was determined in plasma of 212 individuals, by measuring ALU and LINE1 repetitive DNA elements using quantitative PCR. A significant decrease of cfDI in recurrent breast cancer patients was observed...
April 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28500398/comparative-clinical-utility-of-tumor-genomic-testing-and-cell-free-dna-in-metastatic-breast-cancer
#6
Kara N Maxwell, Danielle Soucier-Ernst, Emin Tahirovic, Andrea B Troxel, Candace Clark, Michael Feldman, Christopher Colameco, Bijal Kakrecha, Melissa Langer, David Lieberman, Jennifer J D Morrissette, Matt R Paul, Tien-Chi Pan, Stephanie Yee, Natalie Shih, Erica Carpenter, Lewis A Chodosh, Angela DeMichele
PURPOSE: Breast cancer metastases differ biologically from primary disease; therefore, metastatic biopsies may assist in treatment decision making. Commercial genomic testing of both tumor and circulating tumor DNA have become available clinically, but utility of these tests in breast cancer management remains unclear. METHODS: Patients undergoing a clinically indicated metastatic tumor biopsy were consented to the ongoing METAMORPH registry. Tumor and blood were collected at the time of disease progression before subsequent therapy, and patients were followed for response on subsequent treatment...
May 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28492516/circulating-cell-free-dna-and-circulating-tumor-cells-as-prognostic-and-predictive-biomarkers-in-advanced-non-small-cell-lung-cancer-patients-treated-with-first-line-chemotherapy
#7
Simona Coco, Angela Alama, Irene Vanni, Vincenzo Fontana, Carlo Genova, Maria Giovanna Dal Bello, Anna Truini, Erika Rijavec, Federica Biello, Claudio Sini, Giovanni Burrafato, Claudia Maggioni, Giulia Barletta, Francesco Grossi
Cell-free DNA (cfDNA) and circulating tumor cells (CTCs) are promising prognostic and predictive biomarkers in non-small cell lung cancer (NSCLC). In this study, we examined the prognostic role of cfDNA and CTCs, in separate and joint analyses, in NSCLC patients receiving first line chemotherapy. Seventy-three patients with advanced NSCLC were enrolled in this study. CfDNA and CTC were analyzed at baseline and after two cycles of chemotherapy. Plasma cfDNA quantification was performed by quantitative PCR (qPCR) whereas CTCs were isolated by the ScreenCell Cyto (ScreenCell, Paris, France) device and enumerated according to malignant features...
May 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28485169/plasma-cell-free-dna-integrity-plus-circulating-tumor-cells-a-potential-biomarker-of-no-distant-metastasis-breast-cancer
#8
W Wang, M Liang, G Ma, L Li, W Zhou, T Xia, H Xie, S Wang
Cell-free DNA integrity (cfDI) is a promising diagnostic and prognostic biomarker in breast cancer. However, no specific study has evaluated the diagnostic ability of cfDI in patients with no distant metastasis breast cancer (no-MBC) and benign breast tumor (BBT) to date. We assessed the plasma cfDI of 84 patients with no-MBC and 30 patients with BBT using quantitative PCR and compared it with circulating tumor cells (CTCs) and carbohydrate antigen 153 (CA153). The no-MBC group had significantly lower mean cfDI (0...
May 9, 2017: Neoplasma
https://www.readbyqxmd.com/read/28484715/plasma-circulating-tumor-dna-levels-for-the-monitoring-of-melanoma-patients-landscape-of-available-technologies-and-clinical-applications
#9
REVIEW
Benoit Busser, Julien Lupo, Lucie Sancey, Stéphane Mouret, Patrice Faure, Joel Plumas, Laurence Chaperot, Marie Thérèse Leccia, Jean Luc Coll, Amandine Hurbin, Pierre Hainaut, Julie Charles
Melanoma is a cutaneous cancer with an increasing worldwide prevalence and high mortality due to unresectable or metastatic stages. Mutations in BRAF, NRAS, or KIT are present in more than 60% of melanoma cases, but a useful blood-based biomarker for the clinical monitoring of melanoma patients is still lacking. Thus, the analysis of circulating tumor cells (CTCs) and/or cell-free circulating tumor DNA (ctDNA) analysis from blood (liquid biopsies) appears to be a promising noninvasive, repeatable, and systemic sampling tool for detecting and monitoring melanoma...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28477149/current-and-emerging-applications-of-droplet-digital-pcr-in-oncology
#10
REVIEW
Susana Olmedillas-López, Mariano García-Arranz, Damián García-Olmo
The clinical management of cancer has evolved in recent years towards more personalized strategies that require a comprehensive knowledge of the complex molecular features involved in tumor growth and evolution, and the development of drug resistance mechanisms leading to disease progression. Droplet digital PCR (ddPCR) has become one of the most accurate and reliable tools for the examination of genetic alterations in a wide variety of cancers because of its high sensitivity and specificity. ddPCR is currently being applied for absolute allele quantification, rare mutation detection, analysis of copy number variations, DNA methylation, and gene rearrangements in different kinds of clinical samples...
May 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28466157/liquid-biopsy-unlocking-the-potentials-of-cell-free-dna
#11
David Chu, Ben Ho Park
Circulating tumor DNA (ctDNA) has garnered much excitement over the past few years for its potential clinical utility as a surrogate for tumor biopsies in early cancer detection and prognosis. Numerous studies have demonstrated that ctDNA is shed into the circulation and is elevated in disease states such as cancer. Despite the low levels of ctDNA in the "sea" of normal DNA, advances in next generation sequencing (NGS) and digital polymerase chain reaction (PCR) technologies have led to dramatic improvements in variant detection sensitivity and specificity...
May 2, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28460452/value-of-circulating-cell-free-dna-analysis-as-a-diagnostic-tool-for-breast-cancer-a-meta-analysis
#12
Ziqiang Lin, James Neiswender, Bin Fang, Xuelei Ma, Jing Zhang, Xiuying Hu
OBJECTIVES: The aim of this study was to systematically evaluate the diagnostic value of cell free DNA (cfDNA) for breast cancer. RESULTS: Among 308 candidate articles, 25 with relevant diagnostic screening qualified for final analysis. The mean sensitivity, specificity and area under the curve (AUC) of SROC plots for 24 studies that distinguished breast cancer patients from healthy controls were 0.70, 0.87, and 0.9314, yielding a DOR of 32.31. When analyzed in subgroups, the 14 quantitative studies produced sensitivity, specificity, AUC, and a DOR of 0...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28459943/circulating-tumor-dna-changes-for-early-monitoring-of-anti-pd1-immunotherapy-a-proof-of-concept-study
#13
L Cabel, F Riva, V Servois, A Livartowski, C Daniel, A Rampanou, O Lantz, E Romano, M Milder, B Buecher, S Piperno-Neumann, V Bernard, S Baulande, I Bieche, J Y Pierga, C Proudhon, F C Bidard
BackgroundRecent clinical results support the use of new immune checkpoint blockers (ICB), such as anti-PD-1 (e.g. nivolumab, pembrolizumab) and anti-PD-L1 antibodies. Radiological evaluation of ICB efficacy during therapy is challenging due to tumor immune infiltration. Changes of circulating tumor DNA (ctDNA) levels during therapy could be a promising tool for very accurate monitoring of treatment efficacy, but data are lacking with ICB.Patients and methodsThis prospective pilot study was conducted in patients with non-small cell lung cancer, uveal melanoma or microsatellite-instable colorectal cancer treated by nivolumab or pembrolizumab monotherapy at Institut Curie...
April 29, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28451061/abnormal-dna-methylation-as-a-cell-free-circulating-dna-biomarker-for-colorectal-cancer-detection-a-review-of-literature
#14
REVIEW
Michail Galanopoulos, Nikolaos Tsoukalas, Ioannis S Papanikolaou, Maria Tolia, Maria Gazouli, Gerassimos J Mantzaris
Colorectal cancer (CRC) is one of the most prevalent malignancies in the world. CRC-associated morbidity and mortality is continuously increasing, in part due to a lack of early detection. The existing screening tools such as colonoscopy, are invasive and yet high cost, affecting the willingness of patients to participate in screening programs. In recent years, evidence is accumulating that the interaction of aberrant genetic and epigenetic modifications is the cornerstone for the CRC development and progression by alternating the function of tumor suppressor genes, DNA repair genes and oncogenes of colonic cells...
April 15, 2017: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28450567/circulating-tumor-dna-reflects-tumor-metabolism-rather-than-tumor-burden-in-chemotherapy-naive-patients-with-advanced-non-small-cell-lung-cancer-nsclc-an-18-f-fdg-pet-ct-study
#15
Silvia Morbelli, Angela Alama, Giulia Ferrarazzo, Simona Coco, Carlo Genova, Erica Rijavec, Francesca Bongioanni, Federica Biello, Maria Giovanna Dal Bello, Giulia Barletta, Michela Massollo, Irene Vanni, Roberta Piva, Alberto Nieri, Matteo Bauckneht, Gianmario Sambuceti, Francesco Grossi
We aimed to evaluate the relationship between Circulating tumor Cells (CTCs) and plasma Cell-free DNA (cfDNA) on one side and a comprehensive range of (18)F-fluorodeoxyglucose (FDG)-PET/CT-derived parameters on the other side in chemotherapy-naïve patients with advanced NSCLC. Methods: Among the seventy-nine patients included in the VeriStrat® trial (evaluating the role of pretreatment circulating tumor markers as predictors of prognosis), we selected patients submitted to FDG-PET/CT for clinical reasons just before the inclusion in the trial...
April 27, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28450426/analysis-of-circulating-cell-free-dna-identifies-multi-clonal-heterogeneity-of-brca2-reversion-mutations-associated-with-resistance-to-parp-inhibitors
#16
David Quigley, Joshi J Alumkal, Alexander W Wyatt, Vishal Kothari, Adam Foye, Paul Lloyd, Rahul Aggarwal, Won Kim, Eric Lu, Jacob Schwartzman, Kevin Beja, Matti Annala, Rajdeep Das, Morgan Diolaiti, Colin C Pritchard, George V Thomas, Scott A Tomlins, Karen E Knudsen, Christopher J Lord, Charles J Ryan, Jack Youngren, Tomasz M Beer, Alan Ashworth, Eric J Small, Felix Y Feng
Approximately 20% of metastatic prostate cancers harbor mutations in genes required for DNA repair by homologous recombination (HRR) such as BRCA2. HRR defects confer synthetic lethality to PARP inhibitors (PARPi) such as olaparib and talazoparib. In ovarian or breast cancers, olaparib resistance has been associated with HRR restoration, including by BRCA2 mutation reversion. Whether similar mechanisms operate in prostate cancer, and could be detected in liquid biopsies, is unclear. Here, we identify BRCA2 reversion mutations associated with olaparib and talazoparib resistance in prostate cancer patients...
April 27, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28442298/how-to-study-and-overcome-tumor-heterogeneity-with-circulating-biomarkers-the-breast-cancer-case
#17
REVIEW
Valentina Appierto, Serena Di Cosimo, Carolina Reduzzi, Valentina Pala, Vera Cappelletti, Maria Grazia Daidone
Breast cancer ranks first among female cancer-related deaths in Western countries. As the primary tumor can often be controlled by surgical resection, the survival of women with breast cancer is closely linked to the incidence of distant metastases. Molecular screening by next generation sequencing highlighted the spatial and temporal heterogeneity of solid tumors as well as the clonal evolution of cancer cells during progression and under treatment pressure. Such findings question whether an optimal assessment of disease progression and a screening for druggable mutations should be based on molecular features of primary or recurrent/metastatic lesions and therefore represent a crucial element for failure or success of personalized medicine...
April 22, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28431643/advances-in-circulating-tumor-dna-analysis
#18
Samantha Perakis, Martina Auer, Jelena Belic, Ellen Heitzer
The analysis of cell-free circulating tumor DNA (ctDNA) is a very promising tool and might revolutionize cancer care with respect to early detection, identification of minimal residual disease, assessment of treatment response, and monitoring tumor evolution. ctDNA analysis, often referred to as "liquid biopsy" offers what tissue biopsies cannot-a continuous monitoring of tumor-specific changes during the entire course of the disease. Owing to technological improvements, efforts for the establishment of preanalytical and analytical benchmark, and the inclusion of ctDNA analyses in clinical trial, an actual clinical implementation has come within easy reach...
2017: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/28430637/clinical-utility-of-circulating-cell-free-epstein-barr-virus-dna-in-patients-with-gastric-cancer
#19
Katsutoshi Shoda, Daisuke Ichikawa, Yuji Fujita, Kiyoshi Masuda, Hidekazu Hiramoto, Junichi Hamada, Tomohiro Arita, Hirotaka Konishi, Toshiyuki Kosuga, Shuhei Komatsu, Atsushi Shiozaki, Kazuma Okamoto, Issei Imoto, Eigo Otsuji
Recent comprehensive molecular subtyping of gastric cancer (GC) identified Epstein-Barr virus (EBV)-positive tumors as a subtype with distinct salient molecular and clinical features. In this study, we aimed to determine the potential utility of circulating cell-free EBV DNA as a biomarker for the detection and/or monitoring of therapeutic response in patients with EBV-associated gastric carcinoma (EBVaGC). The EBV genes-to-ribonuclease P RNA component H1 ratios (EBV ratios) in the GC tumors and plasma samples were determined by quantitative real-time polymerase chain reaction in 153 patients with GC, including 14 patients with EBVaGC diagnosed by the conventional method...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430611/prognostic-value-of-egfr-and-kras-in-circulating-tumor-dna-in-patients-with-advanced-non-small-cell-lung-cancer-a-systematic-review-and-meta-analysis
#20
REVIEW
Gaowei Fan, Kuo Zhang, Jiansheng Ding, Jinming Li
EGFR (exon 19 and exon 21) mutations in patients with advanced non-small cell lung cancer (NSCLC) treated by EGFR-TKIs are associated with a better survival; while KRAS mutations predict a worse prognosis. However, there are divergent findings regarding the prognostic value of EGFR and KRAS mutations in circulating tumor DNA (ctDNA). We aimed to summarize the evidence for the use of circulating EGFR and KRAS mutations as prognostic factors in advanced NSCLC patients.We searched the network databases for studies reporting progression-free survival (PFS) and overall survival (OS) stratified by EGFR or KRAS mutations in ctDNA in advanced NSCLC patients...
May 16, 2017: Oncotarget
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