Abstract
Cancer is a molecular disease associated with alterations in the genome, which, thanks to the highly improved sensitivity of mutation detection techniques, can be identified in cell-free DNA (cfDNA) circulating in blood, a method also called liquid biopsy. This is a non-invasive alternative to surgical biopsy and has the potential of revealing the molecular signature of tumors to aid in the individualization of treatments. In this review, we focus on cfDNA analysis, its advantages, and clinical applications employing genomic tools (NGS and dPCR) particularly in the field of oncology, and highlight its valuable contributions to early detection, prognosis, and prediction of treatment response.
Highlights
Rediscovering LB for diagnostic purposesThe U.S National Cancer Institute (NCI) defines liquid biopsy (LB) as “a test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood” [1]
We focus on cell-free DNA (cfDNA) analysis, its advantages, and clinical applications employing genomic tools (NGS and dPCR) in the field of oncology, and highlight its valuable contributions to early detection, prognosis, and prediction of treatment response
LB is at the dawn of a new era of cancer “theranostics”, being a non-invasive addition to Surgical biopsies (SB)
Summary
Mutations in the genes ERBB2, PIK3R1, TP53, and NF1 stand out in glioblastoma [9]; TP53, NF1, BRCA1, BRCA2, RB1, GABRA6, CSMD3, FAT3, and CDK12 alterations characterize ovarian cancer [10]; TP53, PTEN, CTNNB1, PIK3CA, ARID1A, KRAS, ARID5B, and POLE mutations are features of endometrial cancer [11]; TP53, RAS, EGFR, BRAF, PIK3CA, MET, RIT1, STK11, KEAP1, NF1, RB1, CDKN2A, SETD2, ARID1A, SMARCA4, RBM10, U2AF1, and MGA are hallmarks of lung cancer [12] These studies were made possible with generation sequencing (NGS) technology that has the advantage of simultaneously analyzing a large number of genes related to a specific phenotype, allowing the identification of mutations that are otherwise not detected [13].
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