Retrospective cohort study of association of presymptomatic awareness of BRCA1/2 status and outcomes of ovarian cancer

A retrospective cohort study at two centers in Israel evaluated the association of presymptomatic awareness of BRCA1/2 pathogenic variant (PV) status with outcomes among patients with ovarian cancer and BRCA1/2 PVs. Among 132 patients, 34 (25.8%) had prediagnosis awareness of their BRCA1/2 PV status and 98 (74.2%) had postdiagnosis awareness. Prediagnosis awareness was associated with earlier stage at diagnosis, fewer second-line treatments, and longer disease-free survival. No significant overall survival advantage was observed, which could be explained by the limited sample size but may be consistent with observations that in the general population, ovarian cancer downstaging does not translate to decreased mortality. The authors conclude that this findings support BRCA1/2 PV screening before age 40 years in populations with high carrier rates.