Clinical Utility of Liquid Biopsy-Based Actionable Mutations Detected via ddPCR.
Resumen: Cancer is one of the leading causes of death worldwide and remains a major public health
challenge. The introduction of more sensitive and powerful technologies has permitted the appearance
of new tumor‐specific molecular aberrations with a significant cancer management improvement.
Therefore, molecular pathology profiling has become fundamental not only to guide tumor
diagnosis and prognosis but also to assist with therapeutic decisions in daily practice. Although
tumor biopsies continue to be mandatory in cancer diagnosis and classification, several studies have
demonstrated that liquid biopsies could be used as a potential tool for the detection of cancer‐specific
biomarkers. One of the main advantages is that circulating free DNA (cfDNA) provides information
about intra‐tumoral heterogeneity, reflecting dynamic changes in tumor burden. This minimally
invasive tool has become an accurate and reliable instrument for monitoring cancer genetics.
However, implementing liquid biopsies across the clinical practice is still ongoing. The main challenge
is to detect genomic alterations at low allele fractions. Droplet digital PCR (ddPCR) is a powerful
approach that can overcome this issue due to its high sensitivity and specificity. Here we explore
the real‐world clinical utility of the liquid biopsy ddPCR assays in the most diagnosed cancer
subtypes.
Identificador universal: http://hdl.handle.net/10641/2394
Fecha: 2021
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