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Individuals who carry BRCA1 or BRCA2 pathogenic variants are recommended to have extensive cancer prevention screening and risk-reducing surgeries. Uptake of these recommendations is variable, and there remains room for improvement in the risk management of BRCA carriers. This paper explores female BRCA carriers' experiences with the current model of care and their perspectives on (and interest in) an inherited cancer registry. Findings can inform the development of a dedicated high-risk screening and management program for these patients. Quantitative and qualitative data were gathered through a provincial descriptive survey and semi-structured qualitative interviews to assess BRCA carriers' opinions toward risk management services in the province of Newfoundland and Labrador (NL), Canada. Survey (n = 69) and interview data (n = 15) revealed continuity and coordination challenges with the current system of care of high-risk individuals. Respondents suggested an inherited cancer registry would help identify high-risk individuals and provide a centralized system of risk management for identified carriers. Respondents identified concerns about the privacy of their registry data, including who could access it. Findings suggest BRCA carriers see great value in an inherited cancer registry. Specifically, participants noted it could provide a centralized system to help improve the coordination of burdensome, life-long risk management. Important patient concerns about protecting their privacy and their health data confidentiality must be addressed in patient and public information and informed consent documents about a registry. [ABSTRACT FROM AUTHOR]

Introduction: Preliminary clinical evidence suggests a detrimental effect of pathogenic variants of BRCA1 and 2 genes on fertility outcome. This meta-analysis evaluates whether women carrying BRCA mutations (BRCAm) have decreased ovarian reserve, in terms of Anti-Muellerian Hormone (AMH), compared to women without BRCAm (wild-type). Material and methods: Systematic searches of PubMed, Medline, Scopus, Embase, Science Direct and the Cochrane Library from inception until July 2020 were conducted. All studies comparing AMH level in fertile age women, with and without BRCA pathogenic variants were considered. Sub-analyses were performed according to age, presence of breast cancer, and type of mutation. Results: Among 64 studies, 10 series were included. For the entire cohort, a trend of reduced AMH level were found between BRCAm carriers and women without pathogenic variants. BRCAm carriers aged 41-years or younger had lower AMH levels compared to 41-years or younger wild type women (OR: 0.73 [95%CI-1.12;-0.35]; p = 0.0002). This finding was confirmed for BRCA1m carriers (OR: 1 [95%CI-1.96;-0.05]; p = 0.004) whereas no difference was observed between BRCA2m carriers and wild type women. The same analysis on breast cancer patients with and without BRCAm achieved the same results. Conclusion: Young BRCA1m carriers seem to have lower AMH level compared with wild type women and therefore a potential decreased ovarian reserve.

Preliminary clinical evidence suggests a detrimental effect of pathogenic variants of BRCA1 and 2 genes on fertility outcome. This meta-analysis evaluates whether women carrying BRCA mutations (BRCAm) have decreased ovarian reserve, in terms of Anti-Muellerian Hormone (AMH), compared to women without BRCAm (wild-type). Systematic searches of PubMed, Medline, Scopus, Embase, Science Direct and the Cochrane Library from inception until July 2020 were conducted. All studies comparing AMH level in fertile age women, with and without BRCA pathogenic variants were considered. Sub-analyses were performed according to age, presence of breast cancer, and type of mutation. Among 64 studies, 10 series were included. For the entire cohort, a trend of reduced AMH level were found between BRCAm carriers and women without pathogenic variants. BRCAm carriers aged 41-years or younger had lower AMH levels compared to 41-years or younger wild type women (OR: 0.73 [95%CI-1.12;-0.35]; p = 0.0002). This finding was confirmed for BRCA1m carriers (OR: 1 [95%CI-1.96;-0.05]; p = 0.004) whereas no difference was observed between BRCA2m carriers and wild type women. The same analysis on breast cancer patients with and without BRCAm achieved the same results. Young BRCA1m carriers seem to have lower AMH level compared with wild type women and therefore a potential decreased ovarian reserve. [Display omitted] • BRCAm carriers have similar AMH levels to wild-type women. • In women under 42 years old, AMH level is statistically lower in BRCA1m. • Fertility preservation counselling should be offered once BRCA pathogenic variant is diagnosed. [ABSTRACT FROM AUTHOR]

Background: Women with a BRCA1/2 pathogenic variant are advised to undergo premenopausal risk-reducing salpingo-oophorectomy after completion of childbearing, to reduce their risk of ovarian cancer. Several studies reported less sexual pleasure one to three years after a premenopausal oophorectomy. However, the long-term effects of a premenopausal oophorectomy on sexual functioning are unknown.Objective: Our aim was to study long-term sexual functioning in women at increased familial risk of breast/ovarian cancer who underwent a risk-reducing salpingo-oophorectomy either before the age of 46 years (premenopausal group), or after the age of 54 years (postmenopausal group). We performed subgroup analyses in the premenopausal group, comparing early (before the age of 41 years) and later (at ages 41-45 years) premenopausal risk-reducing salpingo-oophorectomy.Study Design: Between 2018 and 2021, we invited 817 women with a high familial risk of breast/ovarian cancer from an ongoing cohort study to participate in our study. Due to a large difference in age at study between the premenopausal and postmenopausal salpingo-oophorectomy groups, we restricted the comparison of sexual functioning between the groups to 368 women who were 60-70 years old at completion of the questionnaire (premenopausal group, n=226, postmenopausal group, n=142). In 496 women with a premenopausal risk-reducing salpingo-oophorectomy we compared sexual functioning between women in the early premenopausal group (n=151) and the later premenopausal group (n=345). Differences between groups were analyzed using multiple regression analyses adjusting for current age, breast cancer history, use of hormone replacement therapy, body mass index, chronic medication use (yes/no) and body image.Results: Mean time since risk-reducing salpingo-oophorectomy was 20.6 years in the premenopausal group and 10.6 years in the postmenopausal group (p-value <.001). In the premenopausal group, mean age at questionnaire completion was 62.7 years, versus 67.0 years in the postmenopausal group (p<.001). In the premenopausal group, 47.4% was still sexually active, compared to 48.9% of the postmenopausal group (p-value: .80). Current sexual pleasure scores were the same for women in the premenopausal group and the postmenopausal group (mean pleasure score 8.6, p-value .99). However, women in the premenopausal group more often reported substantial discomfort than women in the postmenopausal group (35.6% compared with 20.9%, p-value .04). After adjusting for confounders, premenopausal risk-reducing salpingo-oophorectomy was associated with substantially more discomfort during sexual intercourse, compared to postmenopausal risk-reducing salpingo-oophorectomy (odds ratio 3.1, 95% confidence interval 1.04; 9.4). Moreover, following premenopausal risk-reducing salpingo-oophorectomy, more severe complaints of vaginal dryness were observed (odds ratio 2.6, 95% confidence interval 1.4; 4.7). Women with a risk-reducing salpingo-oophorectomy before age 41 reported similar pleasure and discomfort scores as women with a risk-reducing salpingo-oophorectomy between ages 41 and 45.Conclusion: More than 15 years after premenopausal risk-reducing salpingo-oophorectomy, the proportion of sexually active women was comparable to that among women with a postmenopausal risk-reducing salpingo-oophorectomy. However, after a premenopausal risk-reducing salpingo-oophorectomy, women experienced more vaginal dryness and more often had substantial sexual discomfort during sexual intercourse. This did not lead to less pleasure with sexual activity. [ABSTRACT FROM AUTHOR]