13P Methylation of BRCA1 and RAD51C promoters determined by droplet digital PCR predicts homologous repair deficiency in patients with high-grade serous ovarian cancer: Results of the BOVARY-pilot study in paired FFPE and plasma samples and the ICL ovarian cohort
Year: 2024
Type: article
Study design: Observational Study
Abstract: Ovarian cancer (OC) stands as the ninth leading cause of cancer-related deaths in women and represents the most prevalent gynaecological malignancy. Patients with OC are more likely to benefit from iPARP if their tumours present deleterious mutations of BRCA1/2 genes, and if they have a homologous recombination deficiency (HRD). Somatic or germline deleterious mutations of BRCA1/2 occurs in 15 to 20 % of HRD OC. However, not all HRD cases are due to these mutations. Indeed, studies have shown that BRCA1 and RAD51C promoter methylation are responsible for 19% and 2% of HRD cases, respectively.
Source: ESMO Open
Authors: C. Michel, A. Witz, I. Hanriot, J. Dardare, M. Betz, M. Rouyer, M. Husson, M. Brun, M. Lefebvre, C. Gavoille, P. Gilson, J.L. Merlin, A. Harlé
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,730
OpenAlex ID: W4403537633