Orientation-aware plasma cell-free DNA fragmentation analysis in open chromatin regions informs tissue of origin DOI Creative Commons
Kun Sun, Peiyong Jiang, Suk Hang Cheng

et al.

Genome Research, Journal Year: 2019, Volume and Issue: 29(3), P. 418 - 427

Published: Feb. 26, 2019

Cell-free DNA (cfDNA) in human plasma is a class of biomarkers with many current and potential future diagnostic applications. Recent studies have shown that cfDNA molecules are not randomly fragmented possess information related to their tissues origin. Pathologies causing death cells from particular result perturbations the relative distribution affected tissues. Such tissue-of-origin analysis particularly useful development liquid biopsies for cancer. It therefore value accurately determine contributions pool simultaneous manner. In this work, we report open chromatin regions, show characteristic fragmentation patterns reflected by sequencing coverage imbalance differentially phased fragment end signals. The latter refers differences read densities sequences corresponding orientation upstream downstream ends relation reference genome. preferentially occur tissue-specific regions where contributed into plasma. Quantitative analyses such signals allow measurement various toward pool. These findings were validated data obtained pregnant women, organ transplantation recipients, cancer patients. Orientation-aware has applications noninvasive prenatal testing, monitoring, biopsy.

Language: Английский

Liquid biopsies come of age: towards implementation of circulating tumour DNA DOI
Jonathan C. M. Wan, Charles Massie,

Javier García-Corbacho

et al.

Nature reviews. Cancer, Journal Year: 2017, Volume and Issue: 17(4), P. 223 - 238

Published: Feb. 24, 2017

Language: Английский

Citations

2177

Current and future perspectives of liquid biopsies in genomics-driven oncology DOI
Ellen Heitzer, Imran S. Haque,

Charles E. S. Roberts

et al.

Nature Reviews Genetics, Journal Year: 2018, Volume and Issue: 20(2), P. 71 - 88

Published: Nov. 8, 2018

Language: Английский

Citations

1173

Genome-wide cell-free DNA fragmentation in patients with cancer DOI
Stephen Cristiano, Alessandro Leal, Jillian Phallen

et al.

Nature, Journal Year: 2019, Volume and Issue: 570(7761), P. 385 - 389

Published: May 29, 2019

Language: Английский

Citations

1077

Liquid biopsy and minimal residual disease — latest advances and implications for cure DOI
Klaus Pantel, Catherine Alix‐Panabières

Nature Reviews Clinical Oncology, Journal Year: 2019, Volume and Issue: 16(7), P. 409 - 424

Published: Feb. 22, 2019

Language: Английский

Citations

865

Enhanced detection of circulating tumor DNA by fragment size analysis DOI Open Access
Florent Moulière, Dineika Chandrananda, Anna Piskorz

et al.

Science Translational Medicine, Journal Year: 2018, Volume and Issue: 10(466)

Published: Nov. 7, 2018

Selective sequencing or in silico analysis for differences DNA fragment size can improve the detection of circulating tumor DNA.

Language: Английский

Citations

854

Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease DOI Creative Commons
Joshua Moss, Judith Magenheim,

Daniel Neiman

et al.

Nature Communications, Journal Year: 2018, Volume and Issue: 9(1)

Published: Nov. 23, 2018

Abstract Methylation patterns of circulating cell-free DNA (cfDNA) contain rich information about recent cell death events in the body. Here, we present an approach for unbiased determination tissue origins cfDNA, using a reference methylation atlas 25 human tissues and types. The method is validated silico simulations as well vitro mixes from different sources at known proportions. We show that plasma cfDNA healthy donors originates white blood cells (55%), erythrocyte progenitors (30%), vascular endothelial (10%) hepatocytes (1%). Deconvolution patients reveals contributions agree with clinical findings sepsis, islet transplantation, cancer colon, lung, breast prostate, unknown primary. propose procedure which can be easily adapted to study cellular contributors many settings, opening broad window into pathologic dynamics.

Language: Английский

Citations

785

Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments DOI Creative Commons
Saife N. Lone, Sabah Nisar, Tariq Masoodi

et al.

Molecular Cancer, Journal Year: 2022, Volume and Issue: 21(1)

Published: March 18, 2022

Over the past decade, invasive techniques for diagnosing and monitoring cancers are slowly being replaced by non-invasive methods such as liquid biopsy. Liquid biopsies have drastically revolutionized field of clinical oncology, offering ease in tumor sampling, continuous repeated devising personalized therapeutic regimens, screening resistance. consist isolating tumor-derived entities like circulating cells, DNA, extracellular vesicles, etc., present body fluids patients with cancer, followed an analysis genomic proteomic data contained within them. Methods isolation rapidly evolved over few years described review, thus providing greater details about characteristics progression, staging, heterogeneity, gene mutations, clonal evolution, etc. from cancer opened up newer avenues detection monitoring, treatment based on precision medicine, markers Though technology is still evolving, its nature promises to open new eras oncology. The purpose this review provide overview current methodologies involved their application detection, prognosis, outcomes.

Language: Английский

Citations

506

The emerging role of cell-free DNA as a molecular marker for cancer management DOI Creative Commons
Abel J. Bronkhorst, Vida Ungerer, Stefan Holdenrieder

et al.

Biomolecular Detection and Quantification, Journal Year: 2019, Volume and Issue: 17, P. 100087 - 100087

Published: March 1, 2019

An increasing number of studies demonstrate the potential use cell-free DNA (cfDNA) as a surrogate marker for multiple indications in cancer, including diagnosis, prognosis, and monitoring. However, harnessing full cfDNA requires (i) optimization standardization preanalytical steps, (ii) refinement current analysis strategies, and, perhaps most importantly, (iii) significant improvements our understanding its origin, physical properties, dynamics circulation. The latter knowledge is crucial interpreting associations between changes baseline characteristics clinical manifestations cancer. In this review we explore recent advancements highlight gaps concerning each point contact different stages cancer management.

Language: Английский

Citations

488

Unravelling tumour heterogeneity by single-cell profiling of circulating tumour cells DOI
Laura Keller, Klaus Pantel

Nature reviews. Cancer, Journal Year: 2019, Volume and Issue: 19(10), P. 553 - 567

Published: Aug. 27, 2019

Language: Английский

Citations

468

Circulating tumor DNA and liquid biopsy in oncology DOI
David W. Cescon, Scott V. Bratman, Steven M. Chan

et al.

Nature Cancer, Journal Year: 2020, Volume and Issue: 1(3), P. 276 - 290

Published: March 20, 2020

Language: Английский

Citations

456