Abstract
BRCA1/BRCA2 female pathogenic sequence variant (PSV) carriers in Israel are offered semiannual CA125 serum level determination and transvaginal ultrasound, until risk reducing salpingooophorectomy (RRSO). The value of longitudinal CA125 measurements in BRCA1/BRCA2 carriers as a tool for ovarian cancer detection is reported herein. Asymptomatic BRCA1/BRCA2 PSV carriers attending the Meirav high risk clinic for > 3 years were eligible. Data on specific PSV, risk reducing surgeries, and cancer diagnoses were obtained from participants' records. Statistical analyses employed χ2 and Wilcoxon-Rank tests. Overall, 739 (399 BRCA1, 336 BRCA2, 4 BRCA1 + BRCA2) PSV carriers were included. Mean age at the start of follow up was 38.96 ± 11.13 years, mean follow up time was 7.93 ± 2.34 years, (5860.80 women/years). Most participants (490/739 − 66.3%) had stable CA125 levels (± 5 U/µl). Of participants, 61 had CA125 levels > 35 U/µl at least twice (n = 42) or at least doubling of marker levels to a minimum of 20 U/µl (n = 19), results that have led to further cancer defining investigations. Of these, 14 and 4 were diagnosed with breast and ovarian cancer, respectively. In conclusion, longitudinally stable CA125 levels were noted in most BRCA1/BRCA2 PSV carriers, elevated levels were a poor marker for ovarian cancer development. .