Positive rates of endometrial and cervical cytology in ovarian cancer patients with BRCA1/2 germline pathogenic variants

The optimal approach for early-stage ovarian cancer detection remains unclear, particularly in patients with hereditary breast and ovarian cancer (HBOC). As ovarian cancer in HBOC is often thought to originate from the fallopian tube fimbriae, endometrial cytology may play a role in detecting early-stage disease. This retrospective study aimed to assess the positive rate of endometrial cytology and compare to cervical cytology in ovarian cancer patients with patients with BRCA1/2 germline pathogenic variants (gPV). Patients with genetically confirmed BRCA1/2 gPV diagnosed with ovarian, fallopian tube, or primary peritoneal cancer from May 1998 to April 2024 at our institution were included. Those who underwent endometrial and cervical cytology prior to initial treatment were eligible for this analysis. The positive rates for each cytology type were evaluated. A total of 154 patients with BRCA1/2 gPV were enrolled, 118 underwent both endometrial and cervical cytology. The positive rate for endometrial cytology was significantly higher than that for cervical cytology (36.4% vs. 15.3%; p < 0.001). Additionally, a correlation was observed between the positive rate of endometrial cytology and cancer stage (Stage I 16.6%, Stage II 25%, Stage III 41.5%, Stage IV 58.6%; r = 0.9895). In this retrospective study, the positive rate of endometrial cytology surpassed that of cervical cytology. Endometrial cytology may play a role as a potential surveillance tool for women with BRCA1/2 gPV, even at early stages of ovarian cancer.