Current and Emerging Applications of Droplet Digital PCR in Oncology

• Published in: Molecular diagnosis & therapy Vol. 21; no. 5; pp. 493 - 510
• Main Authors: Olmedillas-López, Susana, García-Arranz, Mariano, García-Olmo, Damián
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.10.2017; Springer Nature B.V
• Subjects: Automation; Biomedical and Life Sciences; Biomedicine; Biopsy; Bladder cancer; Body fluids; Breast cancer; Cancer; Cancer Research; Cerebrospinal fluid; Colorectal cancer; Copy number; Deoxyribonucleic acid; Diagnostic systems; Disease resistance; DNA; DNA methylation; Drug resistance; Evolution; Fluid dynamics; Gene amplification; Genetic testing; Human Genetics; Laboratory Medicine; Lung cancer; Medical diagnosis; Methods; Molecular Medicine; Mutation; Oncology; Pancreatic cancer; Pharmacotherapy; Polymerase chain reaction; Review Article; Tissues; Tumor cells; Urine; NSCLC Patient; KRAS Mutation; Minimal Residual Disease; BRAF V600E Mutation; PIK3CA Mutation
• ISSN: 1177-1062; 1179-2000
• DOI: 10.1007/s40291-017-0278-8

The clinical management of cancer has evolved in recent years towards more personalized strategies that require a comprehensive knowledge of the complex molecular features involved in tumor growth and evolution, and the development of drug resistance mechanisms leading to disease progression. Droplet digital PCR (ddPCR) has become one of the most accurate and reliable tools for the examination of genetic alterations in a wide variety of cancers because of its high sensitivity and specificity. ddPCR is currently being applied for absolute allele quantification, rare mutation detection, analysis of copy number variations, DNA methylation, and gene rearrangements in different kinds of clinical samples. This methodology has proven useful for the evaluation of archival tumor tissues, where poor DNA quality and limited sample availability are major obstacles for standard methods, providing less subjective and more automated quantitative results. However, most applications of ddPCR in cancer are focused on liquid biopsies (including cell-free DNA as well as circulating tumor cells) because these represent non-invasive alternatives to tissue biopsies that can more accurately reflect intratumoral heterogeneity and track the dynamic changes in tumor burden that occur in response to treatment at different times during follow-up. A broad spectrum of molecular markers have been interrogated in blood using ddPCR for diagnostic, predictive, and monitoring purposes in various malignancies. Emerging alternative approaches using other body fluids such as cerebrospinal fluid and urine are also currently being developed. This article aims to give a complete overview of ddPCR applications for molecular screening in oncology.