Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations

Eleje, George Uchenna; Eke, Ahizechukwu C.; Ezebialu, Ifeanyichukwu U.; Ikechebelu, Joseph Ifeanyichukwu; Ugwu, Emmanuel Onyebuchi; Okonkwo, Onyinye O

doi:10.1002/14651858.cd012464

Cited by 34 publications

(47 citation statements)

References 85 publications

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“…1 In a recent Cochrane review of 8087 women with BRCA1/2 pathogenic variants, where 2936 underwent risk-reducing salpingo-oophorectomy and 5151 did not, this procedure decreased all-cause mortality (hazard ratio [HR] 0.32, 95% confidence interval [CI] 0.19-0.54), ovarian cancer mortality (HR 0.06, 95% CI 0.02-0.17) and breast cancer mortality (HR 0.58, 95% CI 0.39-0.88). 21 Although outside the scope of this review, the benefit of risk-reducing salpingo-oophorectomy on breast cancer mortality is substantial as well, given the major lifetime risk of breast cancer in women with BRCA1/2 pathogenic variants (72% and 69%, respectively), 9 a finding that supports the strong recommendation for oophorectomy in this population.…”

Section: Salpingo-oophorectomymentioning

confidence: 88%

Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants

Walker

Jacobson

Sobel

2019

CMAJ

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varian cancer has the highest mortality of all female reproductive cancers, largely owing to the absence of early symptoms and lack of effective screening, resulting in diagnosis at an advanced stage. Hereditary breast and ovarian cancers include specifically identified genetic variants that greatly increase the lifetime risk of breast and ovarian cancer. BRCA1 and BRCA2 (BRCA 1/2) pathogenic germline variants account for most hereditary breast and ovarian cancer syndromes. Given the substantial lifetime risk and high mortality of ovarian cancer in women with BRCA1/2 pathogenic variants, risk reduction is a priority, and a risk-reducing salpingo-oophorectomy can decrease the lifetime risk of ovarian cancer by about 80%. 1 Gynecologic management associated with reducing the risk of ovarian cancer in this population includes medical and surgical prophylaxis, important contraception and fertility considerations, and the management of iatrogenic premature menopause, as detailed in the recently published Society of Obstetrician and Gynaecologists of Canada (SOGC) clinical practice guideline. 1 We discuss the gynecologic management of women with a BRCA1/2 pathogenic variant who are at high risk of ovarian cancer, based on evidence outlined in Box 1. These women with a BRCA1/2 pathogenic variant are also at substantially increased risk of breast cancer and require specific management, 5,6 but this is outside the scope of this review and will not be covered. What are BRCA 1/2 pathogenic variants? Pathogenic germline variants in BRCA1/2 substantially increase a woman's lifetime risk of breast and ovarian cancer, in addition to other cancers such as prostate and pancreatic cancer and melanoma. BRCA1/2 genes code for tumour suppressor proteins that function to maintain DNA integrity. BRCA1/2 pathogenic variants are inherited in an autosomal dominant fashion, and the prevalence in the general population ranges from 1/400 to 1/800, but can be as high as 1/40 in women of Ashkenazi Jewish descent. 7,8 Women with BRCA1 and BRCA2 pathogenic variants have a cumulative lifetime risk of ovarian cancer of 39%-44% and 11%-17%, respectively, 9,10 and this is greatly increased above the 1.4% lifetime risk of ovarian cancer in the average Canadian woman. 11 The risk of ovarian cancer begins to rise above the population risk after age 40 years in women with BRCA1, and after age 50 in women with BRCA2; this finding forms the basis for the approach to risk reduction outlined below. Given the histopathologic similarity between high-grade serous

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Section: Salpingo-oophorectomymentioning

confidence: 88%

Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants

Walker

Jacobson

Sobel

2019

CMAJ

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“…Finally, oocyte cryopreservation and other FP procedures should be considered prior to preventive surgeries. The risk of carriers develop ovarian cancer increase to 10-21% by the age of 50 years [90]. Recommendations by ACOG 2009 is that women with BRCA1/ 2 mutations should be offered risk-reducing salpingooophorectomy (RRSO) by the age of 40 years or when childbearing is complete [91].…”

Section: Egg or Embryo Donationmentioning

confidence: 99%

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Zhang

Niu

Che

et al. 2020

Reprod Biol Endocrinol

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BRCA mutation carriers face various situations that influence their fertility potential. There is still a lack of guideline or expert consensus on Fertility Preservation (FP) in BRCA mutation carriers and the necessity and safety of FP in BRCA mutation carriers is still in dispute. This review aims to focus on the population of BRCA mutation carriers by analyzing the existing FP strategies, comprehensively comparing the pros and cons of each strategy and its applicability. FP is a suggestion for BRCA mutation carriers with birth planning. Different FP strategies have different characteristics. Considering the particularity of BRCA mutation carriers, multiple factors need to be carefully considered. This review focuses on the applicability of each FP method for carriers under various circumstances. Available FP strategies including oocyte cryopreservation, ovarian tissue cryopreservation, preimplantation genetic diagnosis, and egg/embryo donation are analyzed by comparing existing methods comprehensively. In the attempt to provide an up-to-date decision-making guidance. Conditions taking into consideration were the carrier's age, the risk of breast and ovarian metastasis, plans for oncotherapy, FP outcome, time available for FP intervention and accessibility. Overall, FP is necessary and safe for BRCA mutation carriers. Among all available FP methods, oocyte cryopreservation is the most reliable procedure; ovarian tissue cryopreservation is the only way for preserving both fertility and endocrine function, recommended for pre-pubertal carriers and when time is limited for oocyte stimulation. A clear framework provides frontline clinical practitioners a new thought and eventually benefit thousands of BRCA mutation carriers.

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“…In contrast to breast cancer where both prophylactic mastectomy and medical surveillance are reasonable, outcomes of epithelial ovarian cancer are poor and there are major limitations regarding early detection. Risk-reducing salpingo-oophorectomy (RRSO) provides an important reduction in ovarian and breast cancer risks and related mortality; however, the latter is less clearly demonstrated for BRCA2 [48][49][50]. erefore, all female carriers with (likely) pathogenic BRCA variants should be recommended to undergo risk-reducing surgery of the fallopian tubes and ovaries after completion of childbearing [37].…”

Section: Ovarian Fallopian Tube and Primary Peritoneal Cancermentioning

confidence: 99%

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

Dullens

Putter

Lambertini

et al. 2020

Journal of Oncology

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Germline pathogenic alterations in the breast cancer susceptibility genes 1 (BRCA1) and 2 (BRCA2) are the most prevalent causes of hereditary breast and ovarian cancer. The increasing trend in proportion of cancer patients undergoing genetic testing, followed by predictive testing in families of new index patients, results in a significant increase of healthy germline BRCA1/2 mutation carriers who are at increased risk for breast, ovarian, and other BRCA-related cancers. This review aims to give an overview of available screening guidelines for female and male carriers of pathogenic or likely pathogenic germline BRCA1/2 variants per cancer type, incorporating malignancies that are more or less recently well correlated with BRCA1/2. We selected guidelines from national/international organizations and/or professional associations that were published or updated between January 1, 2015, and February 1, 2020. In total, 12 guidelines were included. This review reveals several significant discordances between the different guidelines. Optimal surveillance strategies depend on accurate age-specific cancer risk estimates, which are not reliably available for all BRCA-related cancers. Up-to-date national or international consensus guidelines are of utmost importance to harmonize counseling and proposed surveillance strategies for BRCA1/2 carriers.

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Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations

Cited by 34 publications

References 85 publications

Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants

Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

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