1.Missing a chance to prevent:disparities in completion of genetic evaluation in high-risk patients with endometrial cancer
Sharonne HOLTZMAN ; Jessica VELASQUEZ ; Mona SALEH ; Samantha COHEN ; Monica PRASAD-HAYES ; Kristen ZELIGS ; Stephanie V. BLANK
Journal of Gynecologic Oncology 2025;36(2):e94-
Objective:
The primary goal of this study is to examine disparities in high-risk endometrial cancer (EC) patients in relation to rates of genetic referrals (GR), testing (GT), and counseling (GC).
Methods:
This is a retrospective analysis of patients with newly diagnosed EC between January 1, 2014 and September 1, 2020 at a single institution. Patients were defined as highrisk EC patients when they were 1) diagnosed at 50 years or younger, 2) had a positive family history for cancer or 3) had evidence of loss of mismatch repair protein expression on tumor immunohistochemistry. Rates of GR, GT and GC were analyzed based on race, ethnicity, primary language and insurance status.
Results:
During the study period, 674 patients were diagnosed with EC and 249 (36.9%) were considered high-risk EC patients. Among high-risk patients, 128 (51.2%) were referred to GT and GC. Of those referred, 103 (80.5%) underwent GT and 85 (66.4%) completed GC. Out of all high-risk patients, 20 (18.4%) were positive for LS on GT and 29 (28.2%) had VUS results.In multivariate analysis, the odds of GT and GC referral were lower among patients who identified as Hispanic (OR=0.40; 95% CI=0.19–0.87; p=0.020). Patients who identified as black were less likely to receive GC when compared to patients of other races (p=0.030).
Conclusion
It is our hope that through this data we will increase awareness around existing disparities in genetic evaluation for patients with EC and ultimately create strategies to improve equitable access to care for all patients.
2.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
Journal of Gynecologic Oncology 2019;30(4):e60-
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.
Demography
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Female
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Genetic Counseling
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Genetic Testing
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Hereditary Breast and Ovarian Cancer Syndrome
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Humans
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Logistic Models
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Mass Screening
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Ovarian Neoplasms
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Referral and Consultation
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Risk Assessment
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Risk Management

Result Analysis
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