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Development of sensitive and robust multiplex digital PCR assays for the detection of ESR1 mutations in the plasma of metastatic breast cancer patients.
- Source :
-
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2023 May 01; Vol. 545, pp. 117366. Date of Electronic Publication: 2023 Apr 25. - Publication Year :
- 2023
-
Abstract
- Background: Early detection of ESR1 mutations is a key element for better personalization of the management of patients with HR+/HER2- Metastatic Breast Cancer (MBC). Analysis of circulating tumor DNA from liquid biopsies is a particularly well-suited strategy for longitudinal monitoring of such patients.<br />Materials and Methods: Using the naica® three-color digital PCR platform, we developed a screening assay allowing the detection of 11 ESR1 mutations and designed a sequential strategy for precise mutation identification. We then applied this strategy in the analysis of plasma circulating cell-free DNA from 109 HR+/HER2- MBC patients and performed a double-blind comparison study on a subset of patients with the multiplex assay used at the Institut Curie (IC) for the PADA-1 study.<br />Results: Thirty-one patients (28.4%) harboured at least one ESR1 mutation, with the following frequencies: D538G (41.03%), Y537S (25.64%), E380Q (10.26%), Y537N (10.26%), "(536-540)" (7.69%), Y537C (2.56%), and L536R (2.56%). The presence of ESR1 mutation(s) was significantly associated with liver metastases (p = 0.0091). A very good agreement (91%) was observed with the IC assay.<br />Conclusion: Our assays have proven to be robust and highly sensitive and are very well-suited for monitoring ESR1 mutations in the plasma of MBC patients.<br />Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.<br /> (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1873-3492
- Volume :
- 545
- Database :
- MEDLINE
- Journal :
- Clinica chimica acta; international journal of clinical chemistry
- Publication Type :
- Academic Journal
- Accession number :
- 37105452
- Full Text :
- https://doi.org/10.1016/j.cca.2023.117366