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

4 days ago
  • #cancer risk
  • #BRCA1 methylation
  • #cfDNA
  • BRCA1 promoter methylation (BRCA1meth) is found in 20%-27% of triple-negative breast cancer (TNBC) and ovarian cancer (OvCa).
  • BRCA1meth is detectable in peripheral blood cells of unaffected women, indicating increased cancer risk.
  • The GRAIL cfDNA-based platform accurately detects BRCA1meth with a sensitivity of 0.0081 LoD95.
  • cfBRCA1meth prevalence in noncancer individuals is 4.1%, higher in females (4.8%) than males (2.9%).
  • In cancer patients, cfBRCA1meth is enriched in TNBC (15.2%) and OvCa (13.9%).
  • cfBRCA1meth levels correlate with tumor burden in BRCA1meth-positive cancers.
  • The GRAIL assay offers a single platform for assessing BRCA1meth in cancer risk and therapy response.