Management Of High, Moderate, And Low Penetrance Ovarian Cancer Susceptibility Mutations: An Assessment Of Current Risk Reduction Practices

INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER(2020)

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摘要
Objective Limited information exists regarding risk reduction strategies for women with moderate and low penetrance ovarian cancer susceptibility mutations. We sought to assess current risk reduction practice patterns for carriers of these mutations through a survey of members of the Society of Gynecologic Oncology. Methods Society of Gynecologic Oncology members were emailed a survey consisting of two vignettes: (1) a 35-year-old premenopausal woman; (2) a 55-year-old postmenopausal woman with comorbidities. Each vignette contained sub-scenarios in which the patient had either aBRCA1(relative risk (RR)=30-60),RAD51C(RR=5.0), orATM(RR=1.5-2.0) mutation. Respondents were queried about their preferred management approach. Summary statistics were performed to describe results of the survey. We used chi(2)testing for statistical analyses, comparing results according to mutation type and demographic information. Results A total of 193 (15%) of 1284 Society of Gynecologic Oncology members responded. For the premenopausal woman, 99%, 80%, and 40% would perform a risk reducing salpingo-oophorectomy prior to menopause in the setting of aBRCA1, RAD51C, andATMmutation, respectively. For the postmenopausal woman, 98%, 85%, and 42% would proceed with risk reducing salpingo-oophorectomy in the setting of aBRCA1, RAD51C,andATMmutation, respectively. Response distribution for carriers ofRAD51CandATMmutations were different fromBRCA1in both vignettes (p<0.001). Conclusions Respondents were more likely to perform risk reducing salpingo-oophorectomy, in the setting of aBRCA1, RAD51C,andATMmutation, earlier and more frequently in the setting of aBRCA1mutation. However, there was a lack of consensus about management of the moderate and low penetrance mutations, suggesting that more data regarding age specific risks and appropriate risk reduction strategies for these alterations are needed.
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ovarian cancer
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