Practice patterns and results of tumor and germline genetic evaluation of women with endometrial cancer in south Louisiana

• Published in: Gynecologic oncology reports 2021-05, Vol.36, p.100717-100717, Article 100717
• Main Authors: McDougal, Morgan, Nair-Fairless, Pallavi, Weiss, Tova, Dao, Elizabeth, Chapple, Andrew G., Jernigan, Amelia
• Format: Article
• Language: English
• Subjects: DNA mismatch repair; Endometrial Neoplasms; Genetic counseling; Genetic testing; Hereditary nonpolyposis; Microsatellite instability; Research Report
• ISSN: 2352-5789; 2352-5789
• DOI: 10.1016/j.gore.2021.100717

•In south Louisiana, rates of MMRd or MSI-H tumors were 27.5%, and no cases of Lynch Syndrome were identified.•The recommendation for universal tumor testing increased rates of tumor testing, but 100% adherence was not observed.•No disparities were identified in the genetic evaluation of women with endometrial cancer.•Quality improvement is critical to improve consistency and overcome barriers in genetic evaluation. The objectives were to describe rates of MMRd or MSI-H EC tumors, the prevalence of LS, the practice patterns of EC genetic evaluation and adherence to NCCN guidelines, and to identify disparities in the genetic evaluation of women with EC. A retrospective cohort study was performed on women with EC from 1/2013 to 12/2019, and information collected included demographics, personal and family history, EC diagnosis and treatment, and details of genetic evaluation. Statistical analysis included a multivariable logistic regression to adjust for all covariate effects simultaneously and Fisher exact tests of independence and Wilcoxon rank-sum tests to compare categorical and continuous covariates, respectively. Of the 286 women with EC, 80 EC tumors were tested, and 27.5% were MMRd or MSI-H. Of the 21 women who had germline testing, no cases of LS were identified. Before the NCCN recommended universal tumor testing, 17.6% of women had tumor testing performed compared to 60.0% after February of 2017 (OR = 2.51, 95% CI 1.89–3.32). Advanced cancer stage was nearly associated with an increased likelihood of tumor testing (OR = 1.40, 95% CI 1.00–1.97). No disparities were identified. We described patterns of genetic evaluation and tumor testing results for women with EC in south Louisiana and found similar rates of MMRd or MSI-H EC tumors as previously reported in other populations. Rates of tumor testing increased after the NCCN recommendation for universal tumor testing, but it is critical to identify weaknesses in this process and develop an algorithm to improve care for women with EC.