Background: Knowing the homologous recombination deficiency (HRD) status in advanced epithelial ovarian cancer (EOC) is vital for patient management. HRD is determined by BRCA1/BRCA2 pathogenic variants or genomic instability. However, tumor DNA analysis is inconclusive in 15-19% of cases.
View Article and Find Full Text PDFPurpose: Homologous recombination deficiency (HRD) is closely related to PARP inhibitor (PARPi) benefit in ovarian cancer. The capacity of BRCA1 promoter methylation to predict prognosis and HRD status remains unclear. We aimed to correlate BRCA1 promoter methylation levels in patients with high-grade ovarian cancer to HRD status and clinical behavior to assess its clinical relevance.
View Article and Find Full Text PDFE-cadherin, a gene product, is a calcium-dependent cell-cell adhesion molecule playing a critical role in the establishment of epithelial architecture, maintenance of cell polarity, and differentiation. Germline pathogenic variants in the gene are associated with hereditary diffuse gastric cancer (HDGC), and large rearrangements in the gene are now being reported as well. Because pathogenic variants could be associated with breast cancer (BC) susceptibility, rearrangements could also impact it.
View Article and Find Full Text PDF