Should the risk for uterine cancer influence decision making for prophylactic hysterectomy in BRCA1/2 mutated patients- a systematic review and meta-analysis

Nahshon, Chen; Segev, Yakir; Gemer, Ofer; Noy, Tomer Bar; Schmidt, Meirav; Ostrovsky, Ludmila; Lavie, Ofer

doi:10.1016/j.ygyno.2020.11.034

Cited by 17 publications

(13 citation statements)

References 31 publications

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“…Hence, while RRSO is a well-established procedure for women with BRCAm at 35–40 years of age for BRCA1m and at 40–45 years for BRCA2m [ 2 ], prophylactic hysterectomy at the time of RRSO is still a matter of debate [ 16 ]. If women carrying BRCA1m are confirmed to be at an increased risk for serous or serous-like endometrial cancer, this should be considered when counselling a patient with regards to the risks and benefits of the addition of hysterectomy at the time of RRSO.…”

Section: Introductionmentioning

confidence: 99%

Endometrial Cancer and BRCA Mutations: A Systematic Review

Gasparri

Bellaminutti

Farooqi

et al. 2022

JCM

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This systematic review identifies, evaluates, and summarises the findings of all relevant individual studies on the prevalence of BRCA mutation (BRCAm) in endometrial cancer patients and the incidence of endometrial cancer in BRCAm women patients. Consequently, the benefits and limits of a prophylactic hysterectomy at the time of the risk-reducing salpingo-oophorectomy are analysed and discussed. A systematic literature search was performed in the databases of PubMed, Cochrane, and Web of Science until May 2022; 13 studies met the eligibility criteria. Overall, 1613 endometrial cancer patients from 11 cohorts were tested for BRCA1/2 mutation. BRCA1/2m were identified in 4.3% of women with endometrial cancer (70/1613). BRCA1m was the most represented (71.4%) pathogenic variant. Alongside, a total of 209 BRCAm carriers from 14 studies were diagnosed with endometrial cancer. Only 5 out of 14 studies found a correlation between BRCAm and an increased risk of endometrial cancer. Nevertheless, two studies found a statistical difference only for BRCA1m women. The present systematic review does not provide strong evidence in favour of performing routine hysterectomy at the time of risk-reducing salpingo-oophorectomy; however, it provides epidemiological data that can be useful for counselling patients in order to offer a tailored approach.

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Section: Introductionmentioning

confidence: 99%

Endometrial Cancer and BRCA Mutations: A Systematic Review

Gasparri

Bellaminutti

Farooqi

et al. 2022

JCM

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“…In our previous publication, we identified that 15.7% of USC patients included in our study were carriers of BRCA germline mutations, and 25.5% of our relatively small USC cohort were previously found to have a personal history of breast carcinoma [5], suggesting a possible association between breast cancer (BC) and USC. In addition, in our recent metaanalysis, we have shown an elevated risk for EC and especially USC among patients with BRCA germline mutations [7].…”

Section: Introductionmentioning

confidence: 81%

“…Prophylactic oophorectomy for BRCA mutation carriers is strongly recommended [22,23]; however, the issue of prophylactic hysterectomy in this unique population is still controversial and should be discussed positively [7]. The NCCN guidelines for BC patients which are not BRCA mutations carriers include surveillance only, and prophylactic oophorectomy is considered only in rare/special cases [24].…”

Section: Discussionmentioning

confidence: 99%

Breast Cancer Patients Are at Increased Risk of Developing Uterine Serous Cancer: Implications for Counseling – A SEER Analysis

et al. 2022

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Introduction: Several studies have investigated whether patients with prior breast cancer (BC) are at increased risk for endometrial cancer/uterine serous cancer (USC). We aimed to study this relationship and analyze the effect of prior BC on the incidence and prognosis of USC patients. Methods: With permission of the Surveillance, Epidemiology and End Results (SEER) program of the United States National Cancer Institute, clinicopathological information of women diagnosed with BC and following USC were analyzed. The recorded data included age at diagnosis, stage of disease, cause of death, interval time between BC and USC diagnosis and overall survival. Results: The SEER database included 10021 patients with USC during the years 1975-2015. 698 (6.96%) of these patients had been previously diagnosed with breast cancer (BC). The incidence of USC in patients with BC history was 57 times higher than in women without BC history (p value < 0.001). The incidence of USC did not differ between ER positive and ER negative BC patients (p. value 0.94). The mean survival of USC patients with previous BC history was 8 years (96 months, 95% CI 85.7-106.2), shorter than in USC patients with no BC history presenting a mean survival of 10.6 years (127 months, 95% CI 124.0-130.8) (p. value =0.002). Conclusion: Our results highlight the relationship between BC and USC, suggesting an increased risk for USC among BC patients. This clinical association should be introduced to BC patients, and physicians should be alert to any EC presenting symptom in BC survivors.

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“…A risk-reducing bilateral salpingooophorectomy (without hysterectomy) was also offered to the patient, but the patient opted for hysterectomy in large part due to knowledge of her sister's advanced ovarian carcinoma. Emerging evidence indicates that the risk of serous uterine cancer is increased in BRCA1/ BRCA2 mutation carriers, supporting the consideration to perform hysterectomy on an individual basis for highrisk patients (11,12). Larger data series that include RAD51D mutations, and/or other moderate-risk variants, are needed to guide optimal surgery for this category of familial risk.…”

Section: Discussionmentioning

confidence: 99%

Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report

Gregory-Davis

Walker²,

Colello³

et al. 2022

International Journal of Gynecological Pathology

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The RAD51D gene codes a protein-paralog of the RAD51 DNA recombinase, which catalyzes DNA strand exchange during homologous recombination. Similar to BRCA1/BRCA2, mutations in RAD51D both predispose to ovarian carcinoma and impart sensitivity to poly (ADP-ribose) polymerase inhibitors in preclinical studies. Based on cancer risk prediction models, RAD51D mutations pose a moderate-to-high risk for ovarian cancer warranting consideration for risk-reducing surgery. We report a case of serous tubal intraepithelial carcinoma in a patient undergoing risk-reducing total hysterectomy with bilateral salpingo-oophorectomy for a RAD51D pathogenic variant. The histopathologic and p53-immunophenotypic features of this lesion are similar to those reported previously in BRCA1/BRCA2 mutation carriers and those of serous tubal intraepithelial carcinoma associated with sporadic high-grade serous carcinomas. These features include marked increase in nuclear-to-cytoplasmic ratio, loss of cell polarity, absence of ciliation, prominent nucleoli, mitotic activity, epithelial stratification, surface exfoliative changes, and complete loss of p53 staining. Although familial ovarian cancers with mutations in RAD51D-or other genes in the Fanconi anemia pathway-are much less common those with BRCA1/BRCA2 mutations, our findings support a common phenotype for early serous cancers in this pathway.

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Should the risk for uterine cancer influence decision making for prophylactic hysterectomy in BRCA1/2 mutated patients- a systematic review and meta-analysis

Cited by 17 publications

References 31 publications

Endometrial Cancer and BRCA Mutations: A Systematic Review

Endometrial Cancer and BRCA Mutations: A Systematic Review

Breast Cancer Patients Are at Increased Risk of Developing Uterine Serous Cancer: Implications for Counseling – A SEER Analysis

Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report

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