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Considerations for the use of circulating tumor DNA sequencing as a screening tool in cancer predisposition syndromes
Author(s) -
Paramathas Sangeetha,
Guha Tanya,
Pugh Trevor J.,
Malkin David,
Villani Anita
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28758
Subject(s) - medicine , circulating tumor dna , liquid biopsy , cancer , cancer detection , molecular diagnostics , dna sequencing , disease , stage (stratigraphy) , oncology , bioinformatics , dna , genetics , biology , paleontology
Liquid biopsy, specifically circulating tumor DNA (ctDNA) detection, has started to revolutionize the clinical management of patients with cancer by surpassing many limitations of traditional tissue biopsies, particularly for serial testing. ctDNA sequencing has been successfully utilized for cancer detection, prognostication, and assessment of disease response and evolution. While the applications of ctDNA analysis are growing, the majority of studies to date have primarily evaluated its use as a tool for tracking a known cancer, and in most cases at advanced stage. Herein, we discuss the potential application of ctDNA for surveillance and early cancer detection in patients with a cancer predisposition syndrome.