Liquid Biopsies: Genotyping Circulating Tumor DNA

By L. Diaz, A. Bardelli. Journal of Clinical Oncology, 2014

2,035 citations recorded by the source corpus.

Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.

Subfields: Cancer Research, Oncology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/b1c3d7e2dd9311b672a030698a063a0f2f56ef21

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. Brenda M. Birmann
2. A. Young
3. T. Druley
4. Grant A. Challen
5. Aadel A Chaudhuri
6. Robert B. West
7. A. Bardelli

In Oncology

1. Grant A. Challen
2. A. Young
3. Brenda M. Birmann
4. T. Druley
5. M. Jorge Cardoso
6. Larry Norton
7. Fortunato Ciardiello

In Pathology and Forensic Medicine

1. Brenda M. Birmann
2. A. Young
3. T. Druley
4. Grant A. Challen
5. Robert B. West
6. A. Bardelli

Citations in the corpus

• 5th ESO-ESMO international consensus guidelines for advanced breast cancer (ABC 5) (2020, methodology): “Different technologies are available from single-gene assay by quantitative polymerase chain reaction (qPCR) to whole genome sequencing by next-generation sequencing (NGS).(80,81) Standardisation is a critical point, especially for NGS-based analysis.”
• Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults (2016, positive): “This imperative extends to sequencing-based non-invasive screening 34 , which will require even finer discrimination between nascent malignancy and benign clonal expansion. questionnaires to update information on potential exposures and diagnoses of chronic disease.”
• Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin (2016, neutral): “In oncology, the monitoring of advanced cancers by quantifying mutations or aneuploidy in tumor-shed cfDNA is gaining traction (Diaz and Bardelli, 2014).”
• Integrated digital error suppression for improved detection of circulating tumor DNA (2016, positive): “This detection-limit is 10-fold below iDES and nearly 100-fold below the detection-limit of previous methods 5 .”
• ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. (2016, background): “The seminal work of Bardelli and colleagues has shown very promising results from ctDNA liquid biopsies [118, 119].”
• Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling (2017, background): “J Clin Oncol 2014;32(6):579-86 doi 10.”