Current and future perspectives of liquid biopsies in genomics-driven oncology

E Heitzer, IS Haque, CES Roberts… - Nature Reviews …, 2019 - nature.com
Precision oncology seeks to leverage molecular information about cancer to improve patient
outcomes. Tissue biopsy samples are widely used to characterize tumours but are limited by …

Toward the early detection of cancer by decoding the epigenetic and environmental fingerprints of cell-free DNA

Y Van Der Pol, F Mouliere - Cancer cell, 2019 - cell.com
Widespread adaptation of liquid biopsy for the early detection of cancer has yet to reach
clinical utility. Circulating tumor DNA is commonly detected though the presence of genetic …

Assessment of molecular relapse detection in early-stage breast cancer

I Garcia-Murillas, N Chopra, I Comino-Méndez… - JAMA …, 2019 - jamanetwork.com
Importance Current treatment cures most cases of early-stage, primary breast cancer.
However, better techniques are required to identify which patients are at risk of relapse …

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants

P Razavi, BT Li, DN Brown, B Jung, E Hubbell… - Nature medicine, 2019 - nature.com
Accurate identification of tumor-derived somatic variants in plasma circulating cell-free DNA
(cfDNA) requires understanding of the various biological compartments contributing to the …

Detection of solid tumor molecular residual disease (MRD) using circulating tumor DNA (ctDNA)

RI Chin, K Chen, A Usmani, C Chua, PK Harris… - Molecular diagnosis & …, 2019 - Springer
Circulating tumor DNA (ctDNA) is a component of cell-free DNA that is shed by malignant
tumors into the bloodstream and other bodily fluids. Levels of ctDNA are typically low …

Orthogonal comparison of four plasma NGS tests with tumor suggests technical factors are a major source of assay discordance

D Stetson, A Ahmed, X Xu, BRB Nuttall… - JCO Precision …, 2019 - ascopubs.org
PURPOSE Discordance between plasma and tumor variant calling has been attributed
primarily to tumor heterogeneity, whereas technical variables remain largely unexplored …

[HTML][HTML] Ultra-deep next-generation sequencing of plasma cell-free DNA in patients with advanced lung cancers: results from the Actionable Genome Consortium

BT Li, F Janku, B Jung, C Hou, K Madwani, R Alden… - Annals of …, 2019 - Elsevier
Background Noninvasive genotyping using plasma cell-free DNA (cfDNA) has the potential
to obviate the need for some invasive biopsies in cancer patients while also elucidating …

[HTML][HTML] Biological background of the genomic variations of cf-DNA in healthy individuals

J Liu, X Chen, J Wang, S Zhou, CL Wang, MZ Ye… - Annals of …, 2019 - Elsevier
Background Cell-free DNA (cf-DNA)-based liquid biopsy is emerging as a revolutionary new
method in individualized cancer treatment and prognosis monitoring, although detecting …

Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between …

F Batalini, EG Peacock, L Stobie, A Robertson… - Breast Cancer …, 2019 - Springer
The introduction of next-generation sequencing has resulted in testing multiple genes
simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes …

[HTML][HTML] Current views on tumor mutational burden in patients with non-small cell lung cancer treated by immune checkpoint inhibitors

L Berland, S Heeke, O Humbert… - Journal of thoracic …, 2019 - ncbi.nlm.nih.gov
In the last few years, the treatment of patients with non-small cell lung cancer (NSCLC) has
impressively benefitted from immunotherapy, in particular from the inhibition of immune …