Could unnecessary surgeries for suspected ovarian cancer be avoided in women with a pathogenic mutation in the BRCA1/2 genes?

Abstract

BACKGROUND. Ovarian cancer is the most lethal gynaecological cancer, particularly due to the non-specificity of symptoms and the lack of a screening strategy. The general population has a 1-1.5% lifetime risk of developing ovarian cancer. Women with a pathogenic mutation in the BRCA1 or BRCA2 genes have a higher lifetime risk of developing ovarian cancer, being at the age of 70, 39-44% for BRCA1 and 11-18% for BRCA2. Currently, the recommendation with the most

evidence in terms of risk reduction is risk-reducing prophylactic bilateral salpingo- oophorectomy. Nevertheless, some women refuse or postpone this surgery due to the

subsequent effects. Thus, they are offered a six-monthly screening strategy based on

transvaginal ultrasound (TVUS) and CA125 marker analysis. This strategy presents a false- positive rate of 15%, with the consequence of performing unnecessary surgeries, since when

these tests are altered the woman is considered candidate for individualized surgery. OBJECTIVES. The main objective of this study is to determine whether the application of the combined follow-up strategy based on transvaginal ultrasound, serum tumour marker CA125 and PapSEEK is more specific than the current follow-up strategy based on transvaginal ultrasound and serum tumour marker CA125 , in the context of the six-monthly follow-up for the early detection of ovarian cancer in women who carry a pathogenic mutation in the BRCA1 or BRCA2 genes and who are candidates for surgery after presenting a transvaginal ultrasound and/or an altered CA125. Secondary objectives aim to determine the sensibility of the study strategy and assess patient acceptability. DESIGN AND METHODOLOGY. This study was designed as a cross-sectional study. It will be a multicentre study performed in 9 Catalan hospitals. PARTICIPANTS. 62 women with a pathogenic mutation in the BRCA1/2 genes who undergo the current six-monthly follow-up strategy and have these tests altered (CA125 > 35 U/mL and/or TVUS O-RADS ≥ 2)