Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes DOI
Farshad Nassiri, Ankur Chakravarthy, Shengrui Feng

et al.

Nature Medicine, Journal Year: 2020, Volume and Issue: 26(7), P. 1044 - 1047

Published: June 22, 2020

Language: Английский

Breast cancer DOI
Nadia Harbeck, Frédérique Penault‐Llorca, Javier Cortés

et al.

Nature Reviews Disease Primers, Journal Year: 2019, Volume and Issue: 5(1)

Published: Sept. 23, 2019

Language: Английский

Citations

2284

Liquid biopsy enters the clinic — implementation issues and future challenges DOI
Michail Ignatiadis, George W. Sledge, Stefanie S. Jeffrey

et al.

Nature Reviews Clinical Oncology, Journal Year: 2021, Volume and Issue: 18(5), P. 297 - 312

Published: Jan. 20, 2021

Language: Английский

Citations

878

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

866

Molecular profiling for precision cancer therapies DOI Creative Commons
Eoghan Ruadh Malone, Marc Oliva, Peter Sabatini

et al.

Genome Medicine, Journal Year: 2020, Volume and Issue: 12(1)

Published: Jan. 14, 2020

Abstract The number of druggable tumor-specific molecular aberrations has grown substantially in the past decade, with a significant survival benefit obtained from biomarker matching therapies several cancer types. Molecular pathology therefore become fundamental not only to inform on tumor diagnosis and prognosis but also drive therapeutic decisions daily practice. introduction next-generation sequencing technologies rising large-scale profiling programs across institutions worldwide have revolutionized field precision oncology. As comprehensive genomic analyses increasingly available both clinical research settings, healthcare professionals are faced complex tasks result interpretation translation. This review summarizes current upcoming approaches implement medicine, highlighting challenges potential solutions facilitate maximize utility results. We describe novel characterization strategies beyond DNA sequencing, such as transcriptomics, immunophenotyping, epigenetic profiling, single-cell analyses. applications liquid biopsies evaluate blood-based biomarkers, circulating cells nucleic acids. Last, lessons learned existing limitations genotype-derived provide insights into ways expand medicine genomics.

Language: Английский

Citations

716

Multimodal biomedical AI DOI Open Access
Julián Acosta, Guido J. Falcone, Pranav Rajpurkar

et al.

Nature Medicine, Journal Year: 2022, Volume and Issue: 28(9), P. 1773 - 1784

Published: Sept. 1, 2022

Language: Английский

Citations

596

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

470

The lingering mysteries of metastatic recurrence in breast cancer DOI Creative Commons
Alessandra I. Riggio, Katherine E. Varley, Alana L. Welm

et al.

British Journal of Cancer, Journal Year: 2020, Volume and Issue: 124(1), P. 13 - 26

Published: Nov. 26, 2020

Despite being the hallmark of cancer that is responsible for highest number deaths, very little known about biology metastasis. Metastatic disease typically manifests after a protracted period undetectable following surgery or systemic therapy, owing to relapse recurrence. In case breast cancer, metastatic can occur months decades initial diagnosis and treatment. this review, we provide an overview key factors influence recurrence, with goal highlighting critical unanswered questions still need be addressed make difference in mortality patients.

Language: Английский

Citations

452

Life and death of circulating cell-free DNA DOI Creative Commons

Anatoli Kustanovich,

Ruth Schwartz,

Tamar Peretz

et al.

Cancer Biology & Therapy, Journal Year: 2019, Volume and Issue: 20(8), P. 1057 - 1067

Published: April 16, 2019

Tumor-specific, circulating cell-free DNA in liquid biopsies is a promising source of biomarkers for minimally invasive serial monitoring treatment responses cancer management. We will review the current understanding origin and different forms release (including various types cell death active secretion processes) clearance routes. The dynamics extracellular blood during therapy role pathophysiological processes (tumor-associated inflammation, NETosis, pre-metastatic niche development) provide insights into mechanisms that contribute to tumor development metastases formation. Better knowledge tumor-specific could facilitate new therapeutic diagnostic options

Language: Английский

Citations

451

Early Detection of Metastatic Relapse and Monitoring of Therapeutic Efficacy by Ultra-Deep Sequencing of Plasma Cell-Free DNA in Patients With Urothelial Bladder Carcinoma DOI Creative Commons
Emil Christensen, Karin Birkenkamp‐Demtröder, Himanshu Sethi

et al.

Journal of Clinical Oncology, Journal Year: 2019, Volume and Issue: 37(18), P. 1547 - 1557

Published: May 6, 2019

PURPOSE Novel sensitive methods for early detection of relapse and monitoring therapeutic efficacy may have a huge impact on risk stratification, treatment, ultimately outcome patients with bladder cancer. We addressed the prognostic predictive ultra-deep sequencing cell-free DNA in before after cystectomy during chemotherapy. PATIENTS AND METHODS included 68 localized advanced Patient-specific somatic mutations, identified by whole-exome sequencing, were used to assess circulating tumor (ctDNA) (median, 105,000×) plasma DNA. Plasma samples (n = 656) procured at diagnosis, chemotherapy, cystectomy, surveillance. Expression profiling was performed subtype immune signature analyses. RESULTS Presence ctDNA highly diagnosis chemotherapy (hazard ratio, 29.1; P .001). After analysis correctly all metastatic disease (100% sensitivity, 98% specificity). A median lead time over radiographic imaging 96 days observed. In addition, high-risk (ctDNA positive or treatment), dynamics associated recurrence ( .023), whereas pathologic downstaging not. Analysis tumor-centric biomarkers showed that mutational processes (signature 5) .024); however, no significant correlation subtypes, damage response other Our results suggest is better treatment compared available methods. CONCLUSION assessment therapy monitoring, cancer feasible provides basis clinical studies evaluate interventions.

Language: Английский

Citations

429