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Pyrosequencing Assay for BRCA1 Methylation Analysis: Results from a Cross-Validation Study.

Nora Sahnane1, Daniela Rivera2, Laura Libera3

  • 1Unit of Pathology, Ospedale di Circolo, Azienda Socio Sanitaria Territoriale (ASST) Sette Laghi Hospital, Varese, Italy; Research Center for Familial and Hereditary Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy.

The Journal of Molecular Diagnostics : JMD
|February 5, 2023
PubMed
Summary

BRCA1 promoter methylation may predict response to PARP inhibitor therapy in ovarian cancer. A validated pyrosequencing assay showed high concordance and identified BRCA1 methylation, enabling potential clinical use for treatment selection.

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Epithelial ovarian cancers (EOCs) with BRCA1/BRCA2 mutations respond to PARP inhibitors.
  • BRCA1 promoter methylation is a potential biomarker for therapy response, but validation is needed.
  • Previous studies show conflicting results due to a lack of validated assays.

Purpose of the Study:

  • To validate a pyrosequencing assay for measuring BRCA1 promoter methylation in EOCs.
  • To assess the concordance between different pyrosequencing assays for BRCA1 methylation.
  • To investigate the clinical relevance of BRCA1 promoter methylation in EOCs.

Main Methods:

  • Reciprocal blind investigation of 109 EOCs using two distinct pyrosequencing assays targeting the BRCA1 promoter.
  • Comparison of results from the two pyrosequencing assays.
  • Analysis of BRCA1 transcript levels in relation to methylation status.

Main Results:

  • High concordance was observed between the two pyrosequencing assays for BRCA1 promoter methylation.
  • BRCA1 transcript down-regulation was found in EOCs with BRCA1 methylation.
  • The pyrosequencing assay is suitable for formalin-fixed, paraffin-embedded tissues.

Conclusions:

  • The validated pyrosequencing assay is a reliable method for detecting BRCA1 promoter methylation in EOCs.
  • BRCA1 promoter methylation is clinically relevant and linked to reduced BRCA1 transcript levels.
  • This assay could be implemented in routine diagnostics to identify EOC patients eligible for PARP inhibitor therapy.