Presentation of ovarian cancer in women with BRCA mutations

Abstract

<h3>Objectives:</h3> Investigate the clinical presentation and diagnosis of ovarian cancer in women with <i>BRCA</i> mutations. <h3>Methods:</h3> Retrospective cohort study of all women in an integrated healthcare system with pathogenic mutations identified between 1/1/2003-12/31/2018 who were diagnosed with ovarian cancer (OC). Primary outcome was stage of OC; secondary outcomes included method of diagnosis in women with genetic testing before OC diagnosis, interval to diagnosis, and age at genetic testing and ovarian cancer diagnosis. <h3>Results:</h3> Of the 299 women with OC and a <i>BRCA</i> mutation, 41 women were diagnosed with OC after <i>BRCA</i> testing, with 26 (63%) diagnosed on risk-reducing salpingo-oophorectomy (RRSO), 4 (10%) diagnosed by abnormal surveillance testing, and 11 (27%) diagnosed with symptoms. Median age at OC diagnosis was 55, 54, and 58 years for the RRSO, surveillance and symptom groups respectively. Women with a known <i>BRCA</i> mutation status at the time of their OC diagnosis were more likely to have earlier stage OC compared to those who underwent genetic testing after their OC diagnosis (54% vs 15%, <i>p</i><0.001). <h3>Conclusions:</h3> In women with a known <i>BRCA</i> mutation, most OC is diagnosed in older women and at the time of RRSO. Women with a known <i>BRCA</i> mutation at the time of their OC diagnosis were more likely to have earlier stage disease compared to those who underwent genetic testing after their OC diagnosis. The late age at genetic testing of these patients, as well as the earlier stage disease seen in those with a known <i>BRCA</i> mutation, highlights the need for earlier genetic testing and RRSO. Cancers diagnosed on RRSO are more likely to be early stage. Few cancers are detected by surveillance.