The Utility of Liquid Biopsy in Clinical Genetic Diagnosis of Cancer and Monogenic Mosaic Disorders

Overview

Journal Med Genet

Publisher De Gruyter

Specialties Genetics
Medical Ethics

Date 2024 Jun 5

PMID 38835734

Authors

Ariane Hallermayr

Thomas Kessler

Verena Steinke-Lange

Ellen Heitzer

Elke Holinski-Feder

Michael Speicher

Affiliations

Soon will be listed here.

Abstract

Liquid biopsy for minimally invasive diagnosis and monitoring of cancer patients is progressing toward routine clinical practice. With the implementation of highly sensitive next-generation sequencing (NGS) based assays for the analysis of cfDNA, however, consideration of the utility of liquid biopsy for clinical genetic testing is critical. While the focus of liquid biopsy for cancer diagnosis is the detection of circulating tumor DNA (ctDNA) as a fraction of total cell-free DNA (cfDNA), cfDNA analysis reveals both somatic mosaic tumor and germline variants and clonal hematopoiesis. Here we outline advantages and limitations of mosaic and germline variant detection as well as the impact of clonal hematopoiesis on liquid biopsy in cancer diagnosis. We also evaluate the potential of cfDNA analysis for the molecular diagnosis of monogenic mosaic disorders.

Citing Articles

Liquid Biopsy: minimal-invasive analysis of somatic alterations.

Hallermayr A Med Genet. 2024; 35(4):199-200.

PMID: 38835738 PMC: 11006306. DOI: 10.1515/medgen-2023-2061.

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