Multiplex SuperSelective PCR assays for the detection and quantitation of rare somatic mutations in liquid biopsies Journal Article


Authors: Vargas, D. Y.; Tyagi, S.; Marras, S. A. E.; Moerzinger, P.; Abin-Carriquiry, J. A.; Cuello, M.; Rodriguez, C.; Martinez, A.; Makhnin, A.; Farina, A.; Patel, C.; Chuang, T. L.; Li, B. T.; Kramer, F. R.
Article Title: Multiplex SuperSelective PCR assays for the detection and quantitation of rare somatic mutations in liquid biopsies
Abstract: SuperSelective primers, by virtue of their unique design, enable the simultaneous identification and quantitation of inherited reference genes and rare somatic mutations in routine multiplex PCR assays, while virtually eliminating signals from abundant wild-type sequences closely related to the target mutations. These assays are sensitive, specific, rapid, and low cost, and can be performed in widely available spectrofluorometric thermal cyclers. Herein, we provide examples of SuperSelective PCR assays that target eight different somatic EGFR mutations, irrespective of whether they occur in the same codon, occur at separate sites within the same exon, or involve deletions. In addition, we provide examples of SuperSelective PCR assays that detect specific EGFR mutations in circulating tumor DNA present in the plasma of liquid biopsies obtained from patients with non–small-cell lung cancer. The results suggest that multiplex SuperSelective PCR assays may enable the choice, and subsequent modification, of effective targeted therapies for the treatment of an individual's cancer, utilizing frequent noninvasive liquid biopsies. © 2022 Association for Molecular Pathology and American Society for Investigative Pathology
Journal Title: Journal of Molecular Diagnostics
Volume: 24
Issue: 3
ISSN: 1525-1578
Publisher: Elsevier Science, Inc.  
Date Published: 2022-03-01
Start Page: 189
End Page: 204
Language: English
DOI: 10.1016/j.jmoldx.2021.11.006
PUBMED: 34954118
PROVIDER: scopus
PMCID: PMC8961470
DOI/URL:
Notes: Article -- Export Date: 1 April 2022 -- Source: Scopus
Altmetric
Citation Impact
BMJ Impact Analytics
MSK Authors
  1. Andrea Farina
    15 Farina
  2. Tuan Li Chuang
    5 Chuang
  3. Chintan A Patel
    8 Patel
  4. Bob Tingkan Li
    278 Li
  5. Alex Makhnin
    19 Makhnin