Contraception and Hormone Replacement Therapy in Healthy Carriers of Germline BRCA1/2 Genes Pathogenic Variants: Results from an Italian Survey

SIMPLE SUMMARY: Being a healthy carrier of a BRCA1/2 pathogenetic variant is not a contraindication to hormonal contraception and menopause hormonal therapy; however, insufficient knowledge on the topic frequently translates into suboptimal counseling and care. The results of this nationwide Italian survey show that, after being diagnosed as healthy carriers, only 24.5% used hormonal contraception and 28.4% menopause therapy, even though this reduced their quality of life, and the majority were not satisfied with the counseling received. Several misconceptions on the topic persisted, for example, 58.2% were not aware of the protective effect of hormonal contraception on the risk of ovarian cancer. These results highlight the need for educational initiatives on the topic, directed to both healthcare professionals and the population. ABSTRACT: Several myths and misconceptions exist about hormones in women with familial predisposition to cancer, and there are few real-life data on their prescription and uptake. To better understand how they are prescribed and accepted in healthy carriers of a BRCA1/2 pathogenetic variant, an online survey was uploaded on Google Forms and shared through social media closed groups of patients’ associations, aBRCAcadabra and ACTO Campania. A total of 241 questionnaires were collected. Sexual quality of life was considered of the utmost importance by most of the respondents (mean score of 7 ± 2.8/10), but they felt the counseling they received by healthcare professionals on the topic was insufficient (4.9 ± 3.2/10). Only 57 women out of 233 (24.5%) had used hormonal contraception after being diagnosed as carriers of a BRCA pathogenetic variant, and 42 out of 148 (28.4%) underwent menopause hormonal therapy. The majority of women (53.6% for contraception and 61.5% for menopause) reported being dissatisfied with the counseling received, and 58.2% were not aware of the protective effect of hormonal contraception on the risk of ovarian cancer. An educational effort is desirable to guarantee healthy BRCA carriers reliable contraception and evidence-based menopause counseling.