What question did this study set out to answer?

The research aims to assess the prevalence of BRCA1 promoter methylation in individuals with and without cancer.

March 12, 2026JCO Precision Oncology0 citationsOpen Access

Prevalence of BRCA1 Promoter Methylation in Cohorts of Individuals With and Without Cancer Assessed by Circulating Cell-Free DNA

ELEdison T. Liu MAMargaret L. Antonio TNTracy Nance

Puntos clave

The research aims to assess the prevalence of BRCA1 promoter methylation in individuals with and without cancer.
Utilized circulating cell-free DNA assessment to detect BRCA1 promoter methylation.
Analyzed both non-cancer and cancer cohorts to determine methylation levels.
Employed the GRAIL assay for quantitative measurement.
BRCA1 promoter methylation was detectable in non-cancer samples.
Elevated levels of BRCA1 methylation were associated with tumor burden in cancer samples.
GRAIL assay effectively quantified BRCA1 methylation, indicating its potential as a diagnostic tool.

Resumen

Our findings demonstrate that BRCA1meth can be robustly detected using cfDNA assessment both as a constitutional event in noncancer samples and as a metric of BRCA1meth tumor burden in individuals with BRCA1meth cancers. Therefore, the GRAIL assay provides a single quantitative platform that can be used to explore the role of BRCA1meth in cancer risk and therapeutic response.

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