A field guide for cancer diagnostics using cell-free DNA: From principles to practice and clinical applications

What do we need to make circulating tumour DNA (ctDNA) a routine diagnostic test in lung cancer?

(2017) Reyes Bernabé et al.   EUROPEAN JOURNAL OF CANCER

Liquid Biopsy Analysis of FGFR3 and PIK3CA Hotspot Mutations for Disease Surveillance in Bladder Cancer

(2017) Emil Christensen et al.   EUROPEAN UROLOGY

Spatial distribution of EGFR and KRAS mutation frequencies correlates with histological growth patterns of lung adenocarcinomas

(2017) Steffen Dietz et al.   INTERNATIONAL JOURNAL OF CANCER

Molecular Analysis of Circulating Cell-Free DNA from Lung Cancer Patients in Routine Laboratory Practice

(2017) Stephan Bartels et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comparison of Blood Collection Tubes from Three Different Manufacturers for the Collection of Cell-Free DNA for Liquid Biopsy Mutation Testing

(2017) Christina Alidousty et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Study of Preanalytic and Analytic Variables for Clinical Next-Generation Sequencing of Circulating Cell-Free Nucleic Acid

(2017) Meenakshi Mehrotra et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A Comparison of Cell-Free DNA Isolation Kits

(2017) Laure Sorber et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comprehensive Analysis of the Discordance of EGFR Mutation Status between Tumor Tissues and Matched Circulating Tumor DNA in Advanced Non–Small Cell Lung Cancer

(2017) Rui Wan et al.   Journal of Thoracic Oncology

Concordance between Comprehensive Cancer Genome Profiling in Plasma and Tumor Specimens

(2017) Judith N. Müller et al.   Journal of Thoracic Oncology

P3.02b-032 Association between EGFR T790M Mutation Copy Numbers in Cell-Free Plasma DNA and Response to Osimertinib in Advanced NSCLC

(2017) Anna Buder et al.   Journal of Thoracic Oncology

Plasma ctDNA Analysis for Detection of the EGFR  T790M Mutation in Patients with Advanced Non–Small Cell Lung Cancer

(2017) Suzanne Jenkins et al.   Journal of Thoracic Oncology

Urine circulating-tumor DNA (ctDNA) detection of acquired EGFR T790M mutation in non-small-cell lung cancer: An outcomes and total cost-of-care analysis

(2017) Jacob Sands et al.   LUNG CANCER

EGFR T790M mutation testing within the osimertinib AURA Phase I study

(2017) Simon Dearden et al.   LUNG CANCER

Longitudinal monitoring of ctDNA EGFR mutation burden from urine correlates with patient response to EGFR TKIs: A case series

(2017) Nishan Tchekmedyian et al.   LUNG CANCER

Application of circulating tumor DNA in prospective clinical oncology trials - standardization of preanalytical conditions

(2017) Lisanne F. van Dessel et al.   Molecular Oncology

Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

(2017) Christopher Abbosh et al.   NATURE

Integrating liquid biopsies into the management of cancer

(2017) Giulia Siravegna et al.   Nature Reviews Clinical Oncology

Tracking the Evolution of Non–Small-Cell Lung Cancer

(2017) Mariam Jamal-Hanjani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detection of anALKFusion in Colorectal Carcinoma by Hybrid Capture‐Based Assay of Circulating Tumor DNA

(2017) Andrea Z. Lai et al.   ONCOLOGIST

Direct detection of early-stage cancers using circulating tumor DNA

(2017) Jillian Phallen et al.   Science Translational Medicine

EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial

(2017) Jana Fassunke et al.   VIRCHOWS ARCHIV

Cross-Platform Comparison of Four Leading Technologies for Detecting EGFR Mutations in Circulating Tumor DNA from Non-Small Cell Lung Carcinoma Patient Plasma

(2017) Ting Xu et al.   Theranostics

Plasma Circulating Tumor DNA Levels for the Monitoring of Melanoma Patients: Landscape of Available Technologies and Clinical Applications

(2017) Benoit Busser et al.   Biomed Research International

Assessment of circulating copy number variant detection for cancer screening

(2017) Bhuvan Molparia et al.   PLoS One

Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA

(2017) Marjolein J. A. Weerts et al.   Scientific Reports

Droplet Digital PCR versus qPCR for gene expression analysis with low abundant targets: from variable nonsense to publication quality data

(2017) Sean C. Taylor et al.   Scientific Reports

Targeted error-suppressed quantification of circulating tumor DNA using semi-degenerate barcoded adapters and biotinylated baits

(2017) Miguel Alcaide et al.   Scientific Reports

Detection of ubiquitous and heterogeneous mutations in cell-free DNA from patients with early-stage non-small-cell lung cancer

(2016) M. Jamal-Hanjani et al.   ANNALS OF ONCOLOGY

Metastatic EML4-ALK fusion detected by circulating DNA genotyping in an EGFR-mutated NSCLC patient and successful management by adding ALK inhibitors: a case report

(2016) Wenhua Liang et al.   BMC CANCER

Circulating tumor DNA identified by targeted sequencing in advanced-stage non-small cell lung cancer patients

(2016) Song Xu et al.   CANCER LETTERS

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

(2016) Matthew W. Snyder et al.   CELL

Comparative analysis of circulating tumor DNA stability In K3EDTA, Streck, and CellSave blood collection tubes

(2016) Qing Kang et al.   CLINICAL BIOCHEMISTRY

Circulating Tumor DNA as an Early Indicator of Response to T-cell Transfer Immunotherapy in Metastatic Melanoma

(2016) Liqiang Xi et al.   CLINICAL CANCER RESEARCH

Heterogeneity of Acquired Resistance to Anti-EGFR Monoclonal Antibodies in Patients with Metastatic Colorectal Cancer

(2016) Filippo Pietrantonio et al.   CLINICAL CANCER RESEARCH

The Effect of Preservative and Temperature on the Analysis of Circulating Tumor DNA

(2016) Sonya Parpart-Li et al.   CLINICAL CANCER RESEARCH

Circulating DNA as a Strong Multimarker Prognostic Tool for Metastatic Colorectal Cancer Patient Management Care

(2016) S. El Messaoudi et al.   CLINICAL CANCER RESEARCH

Circulating Tumor DNA as a Cancer Biomarker: Fact or Fiction?

(2016) F. Leung et al.   CLINICAL CHEMISTRY

Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

(2016) Fiona S Togneri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway

(2016) Anna-Lena Volckmar et al.   GENES CHROMOSOMES & CANCER

Association Between Plasma Genotyping and Outcomes of Treatment With Osimertinib (AZD9291) in Advanced Non–Small-Cell Lung Cancer

(2016) Geoffrey R. Oxnard et al.   JOURNAL OF CLINICAL ONCOLOGY

ctDNA Determination of EGFR Mutation Status in European and Japanese Patients with Advanced NSCLC: The ASSESS Study

(2016) Martin Reck et al.   Journal of Thoracic Oncology

Quantitative assessment of BRAF V600 mutant circulating cell-free tumor DNA as a tool for therapeutic monitoring in metastatic melanoma patients treated with BRAF/MEK inhibitors

(2016) Max Schreuer et al.   Journal of Translational Medicine

Cell-free DNA (cfDNA): Clinical Significance and Utility in Cancer Shaped By Emerging Technologies

(2016) S. Volik et al.   MOLECULAR CANCER RESEARCH

Integrated digital error suppression for improved detection of circulating tumor DNA

(2016) Aaron M Newman et al.   NATURE BIOTECHNOLOGY

Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer

(2016) Peter Ulz et al.   Nature Communications

Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients

(2016) Jacob J. Chabon et al.   Nature Communications

Limits and potential of targeted sequencing analysis of liquid biopsy in patients with lung and colon carcinoma

(2016) Anna Maria Rachiglio et al.   Oncotarget

Mutation analysis of circulating plasma DNA to determine response to EGFR tyrosine kinase inhibitor therapy of lung adenocarcinoma patients

(2016) Anja Lisa Riediger et al.   Scientific Reports

Evaluation of a novel saliva-based epidermal growth factor receptor mutation detection for lung cancer: A pilot study

(2016) Dan Pu et al.   Thoracic Cancer

Fragment Length of Circulating Tumor DNA

(2016) Hunter R. Underhill et al.   PLoS Genetics

Prospective Validation of Rapid Plasma Genotyping for the Detection ofEGFRandKRASMutations in Advanced Lung Cancer

(2016) Adrian G. Sacher et al.   JAMA Oncology

Optimised Pre-Analytical Methods Improve KRAS Mutation Detection in Circulating Tumour DNA (ctDNA) from Patients with Non-Small Cell Lung Cancer (NSCLC)

(2016) James L. Sherwood et al.   PLoS One

Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients

(2016) Steffen Dietz et al.   PLoS One

Performance of Streck cfDNA Blood Collection Tubes for Liquid Biopsy Testing

(2016) Inga Medina Diaz et al.   PLoS One

Characterizing the patterns of clonal selection in circulating tumor DNA from patients with colorectal cancer refractory to anti-EGFR treatment

(2015) M. P. Morelli et al.   ANNALS OF ONCOLOGY

Circulating tumor DNA as an early marker of therapeutic response in patients with metastatic colorectal cancer

(2015) J. Tie et al.   ANNALS OF ONCOLOGY

First-line erlotinib versus gemcitabine/cisplatin in patients with advancedEGFRmutation-positive non-small-cell lung cancer: analyses from the phase III, randomized, open-label, ENSURE study

(2015) Y.-L. Wu et al.   ANNALS OF ONCOLOGY

Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

(2015) D. P. Steensma et al.   BLOOD

PIK3CA mutations in serum DNA are predictive of recurrence in primary breast cancer patients

(2015) Chiya Oshiro et al.   BREAST CANCER RESEARCH AND TREATMENT

Serial Next-Generation Sequencing of Circulating Cell-Free DNA Evaluating Tumor Clone Response To Molecularly Targeted Drug Administration

(2015) J. S. Frenel et al.   CLINICAL CANCER RESEARCH

Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach

(2015) J. Belic et al.   CLINICAL CHEMISTRY

Noninvasive Detection of Activating Estrogen Receptor 1 (ESR1) Mutations in Estrogen Receptor-Positive Metastatic Breast Cancer

(2015) D. S. Guttery et al.   CLINICAL CHEMISTRY

Brain Tumor Mutations Detected in Cerebral Spinal Fluid

(2015) W. Pan et al.   CLINICAL CHEMISTRY

Influence of storage conditions and extraction methods on the quantity and quality of circulating cell-free DNA (ccfDNA): the SPIDIA-DNAplas External Quality Assessment experience

(2015) Francesca Malentacchi et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma

(2015) Nicole Pfarr et al.   GENES CHROMOSOMES & CANCER

High-throughput diagnostic profiling of clinically actionable gene fusions in lung cancer

(2015) Nicole Pfarr et al.   GENES CHROMOSOMES & CANCER

EGFR mutation detection in ctDNA from NSCLC patient plasma: A cross-platform comparison of leading technologies to support the clinical development of AZD9291

(2015) Kenneth S. Thress et al.   LUNG CANCER

Genetic profiling of tumours using both circulating free DNA and circulating tumour cells isolated from the same preserved whole blood sample

(2015) Dominic G. Rothwell et al.   Molecular Oncology

Cell-free circulating tumour DNA as a liquid biopsy in breast cancer

(2015) Leticia De Mattos-Arruda et al.   Molecular Oncology

Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients

(2015) Giulia Siravegna et al.   NATURE MEDICINE

Acquired EGFR C797S mutation mediates resistance to AZD9291 in non–small cell lung cancer harboring EGFR T790M

(2015) Kenneth S Thress et al.   NATURE MEDICINE

Subclonal diversification of primary breast cancer revealed by multiregion sequencing

(2015) Lucy R Yates et al.   NATURE MEDICINE

Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease

(2015) Timothy M. Butler et al.   PLoS One

Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments

(2015) Kun Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients

(2015) Peiyong Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer

(2015) Isaac Garcia-Murillas et al.   Science Translational Medicine

Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer

(2015) Gaia Schiavon et al.   Science Translational Medicine

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma

(2015) Leticia De Mattos-Arruda et al.   Nature Communications

Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer

(2015) Muhammed Murtaza et al.   Nature Communications

Acquired Resistance to the TRK Inhibitor Entrectinib in Colorectal Cancer

(2015) M. Russo et al.   Cancer Discovery

Tumor Heterogeneity and Lesion-Specific Response to Targeted Therapy in Colorectal Cancer

(2015) M. Russo et al.   Cancer Discovery

Circulating tumor DNA to monitor treatment response and detect acquired resistance in patients with metastatic melanoma

(2015) Elin S. Gray et al.   Oncotarget

Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations

(2015) Simon Chang-Hao Tsao et al.   Scientific Reports

Association ofEGFRL858R Mutation in Circulating Free DNA With Survival in the EURTAC Trial

(2015) Niki Karachaliou et al.   JAMA Oncology

Insights into therapeutic resistance from whole-genome analyses of circulating tumor DNA

(2015) Luis A. Diaz et al.   Oncotarget

The landscape of metastatic progression patterns across major human cancers

(2015) Jan Budczies et al.   Oncotarget

Towards standardisation of cell-free DNA measurement in plasma: controls for extraction efficiency, fragment size bias and quantification

(2014) Alison S. Devonshire et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle

(2014) L. De Mattos-Arruda et al.   ANNALS OF ONCOLOGY

Monitoring of epidermal growth factor receptor tyrosine kinase inhibitor-sensitizing and resistance mutations in the plasma DNA of patients with advanced non-small cell lung cancer during treatment with erlotinib

(2014) Boe S. Sorensen et al.   CANCER

Double-stranded DNA in exosomes: a novel biomarker in cancer detection

(2014) Basant Kumar Thakur et al.   CELL RESEARCH

Comparison of KRAS mutation analysis of primary tumors and matched circulating cell-free DNA in plasmas of patients with colorectal cancer

(2014) Yung-Bin Kuo et al.   CLINICA CHIMICA ACTA

Noninvasive Detection of Response and Resistance in EGFR-Mutant Lung Cancer Using Quantitative Next-Generation Genotyping of Cell-Free Plasma DNA

(2014) G. R. Oxnard et al.   CLINICAL CANCER RESEARCH

Quantitative Cell-Free Circulating BRAFV600E Mutation Analysis by Use of Droplet Digital PCR in the Follow-up of Patients with Melanoma Being Treated with BRAF Inhibitors

(2014) M. F. Sanmamed et al.   CLINICAL CHEMISTRY

Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients

(2014) Jordan Madic et al.   INTERNATIONAL JOURNAL OF CANCER

Direct measurement of cell-free DNA from serially collected capillary plasma during incremental exercise

(2014) Sarah Breitbach et al.   JOURNAL OF APPLIED PHYSIOLOGY

Identification of Double-stranded Genomic DNA Spanning All Chromosomes with MutatedKRASandp53DNA in the Serum Exosomes of Patients with Pancreatic Cancer

(2014) Christoph Kahlert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Liquid Biopsies: Genotyping Circulating Tumor DNA

(2014) Luis A. Diaz et al.   JOURNAL OF CLINICAL ONCOLOGY

Elevated Cell-Free Plasma DNA Level as an Independent Predictor of Mortality in Patients with Severe Traumatic Brain Injury

(2014) Edison Moraes Rodrigues Filho et al.   JOURNAL OF NEUROTRAUMA

Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types

(2014) Ronald Lebofsky et al.   Molecular Oncology

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage

(2014) Aaron M Newman et al.   NATURE MEDICINE

Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA

(2014) Alain R Thierry et al.   NATURE MEDICINE

Multitarget Stool DNA Testing for Colorectal-Cancer Screening

(2014) Thomas F. Imperiale et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Direct Quantification of Cell-Free, Circulating DNA from Unpurified Plasma

(2014) Sarah Breitbach et al.   PLoS One

Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues

(2014) Irina Manokhina et al.   PLoS One

Evaluation of Exome Sequencing to Estimate Tumor Burden in Plasma

(2014) Daniel Klevebring et al.   PLoS One

Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing

(2014) J. Zhang et al.   SCIENCE

Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies

(2014) C. Bettegowda et al.   Science Translational Medicine

Circulating Cell-Free DNA from Colorectal Cancer Patients May Reveal High KRAS or BRAF Mutation Load

(2014) Florent Mouliere et al.   Translational Oncology

Circulating tumor DNA analysis as a real-time method for monitoring tumor burden in melanoma patients undergoing treatment with immune checkpoint blockade

(2014) Evan J Lipson et al.   Journal for ImmunoTherapy of Cancer

Circulating cell free DNA: Preanalytical considerations

(2013) Safia El Messaoudi et al.   CLINICA CHIMICA ACTA

Detection of Mutant Free Circulating Tumor DNA in the Plasma of Patients with Gastrointestinal Stromal Tumor Harboring Activating Mutations of CKIT or PDGFRA

(2013) J. Maier et al.   CLINICAL CANCER RESEARCH

Tolerance of Droplet-Digital PCR vs Real-Time Quantitative PCR to Inhibitory Substances

(2013) T. C. Dingle et al.   CLINICAL CHEMISTRY

Multiplex Picodroplet Digital PCR to Detect KRAS Mutations in Circulating DNA from the Plasma of Colorectal Cancer Patients

(2013) V. Taly et al.   CLINICAL CHEMISTRY

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer

(2013) Ellen Heitzer et al.   INTERNATIONAL JOURNAL OF CANCER

A New Blood Collection Device Minimizes Cellular DNA Release During Sample Storage and Shipping When Compared to a Standard Device

(2013) Sheila E. Norton et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Molecular Diagnostic Profiling of Lung Cancer Specimens with a Semiconductor-Based Massive Parallel Sequencing Approach

(2013) Volker Endris et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

(2013) Muhammed Murtaza et al.   NATURE

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

(2013) Sarah-Jane Dawson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Highly Precise Measurement of HIV DNA by Droplet Digital PCR

(2013) Matthew C. Strain et al.   PLoS One

Influence of Plasma Processing on Recovery and Analysis of Circulating Nucleic Acids

(2013) Karen Page et al.   PLoS One

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

(2013) Amin R. Mazloom et al.   PRENATAL DIAGNOSIS

Quantitative Cell-Free DNA, KRAS, and BRAF Mutations in Plasma from Patients with Metastatic Colorectal Cancer during Treatment with Cetuximab and Irinotecan

(2012) K.-L. G. Spindler et al.   CLINICAL CANCER RESEARCH

Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing

(2012) K. C. A. Chan et al.   CLINICAL CHEMISTRY

The Novel Histologic International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society Classification System of Lung Adenocarcinoma Is a Stage-Independent Predictor of Survival

(2012) Arne Warth et al.   JOURNAL OF CLINICAL ONCOLOGY

Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine

(2012) Elizabeth Day et al.   METHODS

The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers

(2012) Luis A. Diaz Jr et al.   NATURE

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

(2012) Lambert Busque et al.   NATURE GENETICS

Multi-Purpose Utility of Circulating Plasma DNA Testing in Patients with Advanced Cancers

(2012) Geraldine Perkins et al.   PLoS One

Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA

(2012) T. Forshew et al.   Science Translational Medicine

Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing

(2012) R. J. Leary et al.   Science Translational Medicine

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Dissecting Therapeutic Resistance to RAF Inhibition in Melanoma by Tumor Genomic Profiling

(2011) Nikhil Wagle et al.   JOURNAL OF CLINICAL ONCOLOGY

High Fragmentation Characterizes Tumour-Derived Circulating DNA

(2011) Florent Mouliere et al.   PLoS One

Detection and quantification of rare mutations with massively parallel sequencing

(2011) I. Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The value of serial plasma nuclear and mitochondrial DNA levels in patients with acute ischemic stroke

(2010) Nai-Wen Tsai et al.   CLINICA CHIMICA ACTA

Diagnostic accuracy and safety of fine-needle aspiration biopsy of the parapharyngeal space

(2010) Thomas Arnason et al.   DIAGNOSTIC CYTOPATHOLOGY

Origin and quantification of circulating DNA in mice with human colorectal cancer xenografts

(2010) Alain R. Thierry et al.   NUCLEIC ACIDS RESEARCH

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

(2010) R. J. Leary et al.   Science Translational Medicine

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Isolation and Extraction of Circulating Tumor DNA from Patients with Small Cell Lung Cancer

(2009) Ruth E. Board et al.   Annals of the New York Academy of Sciences

Metabolic DNA as the Origin of Spontaneously Released DNA?

(2009) Peter B. Gahan et al.   Annals of the New York Academy of Sciences

Single-Molecule Detection of Epidermal Growth Factor Receptor Mutations in Plasma by Microfluidics Digital PCR in Non-Small Cell Lung Cancer Patients

(2009) T. K.F. Yung et al.   CLINICAL CANCER RESEARCH

Sensitivity and specificity of multimodal and ultrasound screening for ovarian cancer, and stage distribution of detected cancers: results of the prevalence screen of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS)

(2009) Usha Menon et al.   LANCET ONCOLOGY

Analysis of Mutations in DNA Isolated From Plasma and Stool of Colorectal Cancer Patients

(2008) Frank Diehl et al.   GASTROENTEROLOGY

Circulating mutant DNA to assess tumor dynamics

(2008) Frank Diehl et al.   NATURE MEDICINE

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

(2008) H. C. Fan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA