Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study

Epithelial Ovarian Cancers (EOCs) harboring germline or somatic pathogenic variants in BRCA1 and BRCA2 genes show sensitivity to poly(ADP-ribose) polymerase (PARP) inhibition. It has been suggested that BRCA1 promoter methylation is perhaps a better determinant of therapy response, due to its intrinsic dynamic feature, with respect to genomic scars or gene mutation. Conflicting evidence was reported so far and the lack of a validated assay to measure promoter methylation was considered a main confounding factor in data interpretation.

Source: Journal of Molecular Diagnostics - February 3, 2023 Category: Pathology Authors: Nora Sahnane, Daniela Rivera, Laura Libera, Ileana Carnevali, Barbara Banelli, Sofia Facchi, Viviana Gismondi, Michele Paudice, Gabriella Cirmena, Valerio Gaetano Vellone, Fausto Sessa, Liliana Varesco, Maria Grazia Tibiletti Tags: Regular Article Source Type: research