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

Jing Yi Chern, Sarah S. Lee, Melissa K. Frey, Jessica Lee, Stephanie V. Blank

Research output: Contribution to journalArticle

5 Scopus citations

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.

Original languageEnglish (US)
Article numbere60
JournalJournal of Gynecologic Oncology
Volume30
Issue number4
DOIs
StatePublished - Jul 2019
Externally publishedYes

Keywords

  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome
  • Risk Assessment
  • Salpingo-oophorectomy

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology

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