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KMID : 1137020190300040060
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Journal of Gynecologic Oncology
2019 Volume.30 No. 4 p.60 ~ p.60
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The influence of BRCA variants of unknown significance on cancer risk management decision-making
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Chern Jing-Yi
Lee Sarah S.
Frey Melissa K.
Lee Jessica
Blank Stephanie V.
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Abstract
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Objective: To compare gynecological cancer risk management between women with BRCA variants of unknown significance (VUS) to women with negative genetic testing.
Methods: Ninety-nine patients whose BRCA genetic testing yielded VUS were matched with 99 control patients with definitive negative BRCA results at a single institution. Demographics and risk management decisions were obtained through chart review. Primary outcome was the rate of risk-reducing bilateral salpingo-oophorectomy (RRBSO). Chi square tests, t-tests, and logistic regression were performed, with significance of p<0.05.
Results: VUS patients were more likely to be non-Caucasian (p=0.000) and of Ashkenazi-Jewish descent (p=0.000). There was no difference in gynecologic oncology referrals or recommendations to screen or undergo risk-reducing surgery for VUS vs. negative patients. Ultimately, 44 patients (22%) underwent RRBSO, with no significant difference in surgical rate based on the presence of VUS. Ashkenazi-Jewish descent was associated with a 4.5 times increased risk of RRBSO (OR=4.489; 95% CI=1.484?13.579) and family history of ovarian cancer was associated with a 2.6 times risk of RRBSO (OR=2.641; 95% CI=1.107?6.299).
Conclusion: In our institution, patients with VUS were surgically managed similarly to those with negative BRCA testing. The numbers of patients with VUS are likely to increase with the implementation of multi-gene panel testing. Our findings underscore the importance of genetic counseling and individualized screening and prevention strategies in the management of genetic testing results.
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KEYWORD
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Genetic Testing, Hereditary Breast and Ovarian Cancer Syndrome, Salpingo-oophorectomy, Risk Assessment
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