Lost opportunities for mismatch repair (MMR) screening among minority women with endometrial cancer

Abstract

Lynch Syndrome (LS) prevalence in underrepresented minorities are lacking. The objective of this study was to assess the prevalence of LS in a minority patient population. Secondary objectives included identifying factors associated with successful LS screening and to characterize clinicopathologic features. Women with endometrial cancer treated within a university system from 2014 and 2016 were included. Immunohistochemistry (IHC) results of MLH1, PMS2, MSH2 and MSH6 were obtained from medical records and clinicopathologic factors abstracted. Patients not previously screened for LS were screened. 276 patients were evaluable. More minority women were screened as part of their routine cancer care (p = 0.005). Additionally, women 50 years or younger were more likely to be screened for LS compared to women older than 51(p = 0.009) and uninsured or reliant on Medicaid patients (p = 0.011) were more likely to be screened during routine care. Six patients received confirmatory germline testing for LS (4.3%), and another 8 patients had a staining pattern suggestive of LS. In an underrepresented population, the rate of LS in endometrial cancer is similar to previous reports. LS may be under diagnosed and opportunities missed when universal screening is not applied in minority women.

No Racial Disparities Observed Using Point-of-Care Genetic Counseling and Testing for Endometrial and Ovarian Cancer in a Diverse Patient Population: A Retrospective Cohort Study

“…It should be noted that when stratified by race, however, there were no differences. The rate of LS detected in our cohort was 1.9%, which is less than the known prevalence in endometrial cancer of 2-5% [18,19].…”

“…For endometrial cancer, in comparison to the 207 (55%) patients screened for MMR IHC at our institution, reaching 99% in 2021 and 100% in 2022, a previous cohort study by Huang et al at the University of Miami similarly showed that 51.1% of endometrial cancer patients received IHC screening between 2014 and 2017 [18].…”

Medicaid Expansions: Probing Medicaid’s Filling of the Cancer Genetic Testing and Screening Space

“…African American race was also independently associated with a lack of referral for genetic evaluation and testing on multivariate analysis. The screening experience was quite different for 276 endometrial cancer patients evaluated for LS mutations in a large public safety-net hospital in Miami, FL between 2014 and 2016 [ 77 ]. Medical records’ immunohistochemistry (IHC, indicating likelihood of LS mutations) results were obtained for all patients treated for endometrial cancer during this time period, 79.3% of the patients being of a racial or ethnic minority background.…”

Racial disparities and referral for genetic counseling

“…The importance of screening and referral for genetic testing is underscored by a report suggesting similar rates of Lynch syndrome diagnosis in minority women with endometrial cancer compared to their non-Hispanic White counterparts. 9 It is sobering that only 75% of Black/AA patients were seen for genetics clinic counseling in the cohort of patients reported by Liu et al Despite guideline recommendations for genetic screening of at-risk individuals, there is an underreferral of patients, particularly minorities and other underserved populations. 10 Barriers identified across multiple studies include awareness, provider communication and referral, distrust, stress, and the non-English primary language of the patient.…”

“…The importance of screening and referral for genetic testing is underscored by a report suggesting similar rates of Lynch syndrome diagnosis in minority women with endometrial cancer compared to their non‐Hispanic White counterparts 9 . It is sobering that only 75% of Black/AA patients were seen for genetics clinic counseling in the cohort of patients reported by Liu et al.…”