Background: This prospective study analyzed paired tumor and blood samples from 136 triple-negative breast cancer (TNBC) patients from the SCANDARE study (NCT03017573). To evaluate constitutional and tumoral BRCA1 promoter methylation status, the semi-quantitative...
Background: The study evaluated Methylation-Sensitive High-Resolution Melting (MS-HRM) technology to detect germline epimutations of the MLH1 gene promoter in patients with Lynch syndrome-related tumors, utilizing validated MS-HRM assay workflows. Key Finding: MS-HRM...
Background: The study assessed the prevalence of constitutional BRCA1 promoter hypermethylation (epimutations) in blood cells using specific Methylation-Sensitive High-Resolution Melting (MS-HRM) EpiMelt assays from Methyl Detect ApS (Aalborg, Denmark) targeting six...
Background: The study performed an analytical validation of the Belay Vantage™ assay to evaluate MGMT promoter methylation status in tumor DNA derived from cerebrospinal fluid (CSF) using enzymatic conversion and quantitative PCR (qPCR) with EpiMelt technology. Key...
Background: The study investigated whether mosaic BRCA1 promoter methylations (MBPM) contribute to male breast cancer predisposition by screening 40 blood samples from affected male patients using Methylation-Sensitive High-Resolution Melting (MS-HRM) with the EpiMelt...
Background: The study investigated how analytical sensitivity impacts the detection of low-level constitutional BRCA1 epimutations, evaluating assay performance parameters and methodologies used in methylation testing. Key Finding: The results demonstrate that...
