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. 2019 Jul;30(4):e60.
doi: 10.3802/jgo.2019.30.e60. Epub 2019 Feb 27.

The influence of BRCA variants of unknown significance on cancer risk management decision-making

Jing Yi Chern  1 , Sarah S Lee  2 , Melissa K Frey  3 , Jessica Lee  4 , Stephanie V Blank  5
Affiliations

The influence of BRCA variants of unknown significance on cancer risk management decision-making

Jing Yi Chern et al. J Gynecol Oncol. 2019 Jul.

Abstract

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.

Keywords: Genetic Testing; Hereditary Breast and Ovarian Cancer Syndrome; Risk Assessment; Salpingo-oophorectomy.

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Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1. Consolidated Standards of Reporting Trials diagram of included patients.
VUS, variants of unknown significance; BSO, bilateral salpingo-oophorectomy.
See this image and copyright information in PMC

Comment in

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