Uptake and timing of risk-reducing salpingo-oophorectomy among patients with BRCA1 and BRCA2 mutations

Smith, Maria; Gerber, David; Olsen, Anne O.; Khouri, Olivia R.; Wang, Yuyan; Liu, Mengling; Smith, Julia; Pothuri, Bhavana

doi:10.1016/j.ajog.2021.06.070

Cited by 16 publications

(11 citation statements)

References 36 publications

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“…There are few carriers who received RRSO by the age of 40 according to the guidelines. Smith et al [ 22 ] reported that the most common reason for the delay in RRSO was delayed identification of BRCA mutation, thus timely genetic testing for eligible patients can increase appropriately timed RRSO for prevention of OC and reduction of mortality in BRCA mutation carriers.…”

Section: Discussionmentioning

confidence: 99%

Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy

et al. 2022

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Objective BRCA1 and BRCA2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) by age 40 and 45, respectively. However, the carriers have a different way of thinking about their life plan. We aimed to investigate the distribution of age at diagnosis of ovarian cancer (OC) patients to examine the optimal timing of RRSO in the carriers. Methods We examined a correlation between age at diagnosis of OC and common mutation types in 3,517 probands that received BRCA genetic testing. Among them, germline BRCA1 mutation (g BRCA1 m), germline BRCA2 mutation (g BRCA2 m) and germline BRCA wild-type (g BRCA wt) were found in 185, 42 and 241 OC patients, respectively. Results The average age at diagnosis of OC in g BRCA1 m and g BRCA2 m was 51.3 and 58.3 years, respectively, and the difference from g BRCA wt (53.8 years) was significant. The g BRCA2 m carriers did not develop OC under the age of 40. The average age was 50.1 years for L63X and 52.8 years for Q934X in BRCA1 , and 55.1 years for R2318X and 61.1 years for STOP1861 in BRCA2 . The age at diagnosis in L63X or R2318X carriers was relatively younger than other BRCA1 or BRCA2 carriers, however their differences were not significant. With L63X and R2318X carriers, 89.4% (42/47) and 100% (7/7) of women were able to prevent the development of OC, respectively, when RRSO was performed at age 40. Conclusion There appears to be no difference in the age at diagnosis of OC depending on the type of BRCA common mutation. Further analysis would be needed.

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Section: Discussionmentioning

confidence: 99%

Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy

et al. 2022

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“…Many respondents declared to have undergone RRSO (55.5%) and prophylactic double mastectomy (55.9%), a slightly higher percentage than the 38% and 40% reported in the literature [ 11 , 23 ]. Aside from the full reimbursement of the procedure by the public healthcare system in Italy, this could also be explained by the fact that they belong to patients’ associations, a network of mostly more knowledgeable and self-aware women.…”

Section: Discussionmentioning

confidence: 88%

“…Indeed, there is evidence in the general population that mortality is significantly higher in women who had received RRSO before the age of 45 and did not undergo HRT (hazard ratio 1.67 (95% CI 1.16–2.40), p = 0.006) [ 10 ]. In BRCA carriers, RRSO has been shown to decrease gynecologic cancer-specific, as well as overall, mortality [ 11 ], but the short- and long-term adverse effects of premature menopause still remain. A recent meta-analysis did not find increased cancer risk linked to the use of HRT in healthy carriers, which is not contraindicated in this specific population [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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

Massarotti

Buonomo

Dellino

et al. 2022

Cancers

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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.

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“…The women in Period B were not young enough to match the appropriate age derived from NCCN guidelines [6]. It was reported that women who underwent delayed RRSO were signi cantly older at the time of genetic testing than those who underwent timely RRSO [15]. To promote genetic testing for unaffected carriers, its coverage by the national insurance system for unaffected individuals is expected.…”

Section: Discussionmentioning

confidence: 99%

Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan

Nomura

Abe

Fusegi

et al. 2022

Preprint

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Background To determine the impact of the coverage of risk-reducing salpingo-oophorectomy (RRSO) and mastectomy (RRM) as well as genetic testing for BRCA pathogenic variants by the national insurance system in Japan. Methods We compared the clinical background of women who underwent RRSO at our institution before and after its coverage by the national insurance system. Results Those who underwent RRSO between January 2017 and December 2019 and between April 2020 and March 2022 were classified as Period A and B, respectively. Overall, 134 women underwent RRSO during the study period. In Period A and B, 45 and 89 women underwent RRSO for the study period was 36 and 24 months, respectively. Compared with Period A, the number of women who underwent RRSO per month increased by 3-fold in Period B (p < 0.01). In addition, the number of women who underwent surgery for breast cancer along with RRSO increased in Period B (p < 0.01). Although the number of women who underwent concurrent RRM with RRSO in Period B increased, the difference was not statistically significant. Compared with Period A, the number of women diagnosed with BRCA pathogenic variant increased by 3.9-fold, and the proportion of women who underwent concurrent hysterectomy at the time of RRSO decreased from 66% to 7.9% in Period B (p < 0.01). Conclusion Owing to the introduction of the national insurance system, the number of women who underwent RRSO and concurrent surgery for breast cancer at the time of RRSO increased in Japan.

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Uptake and timing of risk-reducing salpingo-oophorectomy among patients with BRCA1 and BRCA2 mutations

Cited by 16 publications

References 36 publications

Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy

Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy

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

Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan

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