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Case-Case Study of Factors Associated to hMLH1, hMSH2, and hMSH6 Protein Expression Among Endometrial Cancer Patients of the University District Hospital of San Juan, Puerto Rico
  1. Lorena González, MS*,
  2. Ana P. Ortiz, MPH, PhD*,,
  3. Erick L. Suárez, PhD*,
  4. Sharee Umpierre, MD,
  5. Jorge Billoch, MD§,
  6. Maria J. Marcos, MD§,
  7. Leilani Joy, BS,
  8. Eileen Charneco, MS,
  9. Mercedes Y. Lacourt, MS,
  10. Raúl D. Bernabe-Dones, PhD and
  11. Marcia R. Cruz-Correa, MD, PhD, FASGE, AGAF,
  1. *Department of Biostatistics and Epidemiology, Graduate School of Public Health, MSC-UPR;
  2. Cancer Control and Population Sciences Program, UPR, Comprehensive Cancer Center; Departments of
  3. Obstetrics&Gynecology and
  4. §Pathology and Laboratory Medicine, School of Medicine, MSC-UPR;
  5. UPR/MDACC Partnership in Excellence in Cancer Research Program, School of Medicine, MSC-UPR; and
  6. Department of Biochemistry, School of Medicine, MSC-UPR, San Juan, Puerto Rico.
  1. Address correspondence and reprint requests to Marcia R. Cruz-Correa, MD, PhD, FASGE, AGAF, UPR Comprehensive Cancer Center, PMB 371 PO Box 70344, San Juan, 00936-8344, Puerto Rico. E-mail:


Lynch syndrome (LS) is an autosomal dominant disorder caused by DNA mismatch repair (MMR) system deficiencies. Women affected by LS present a 40% to 60% lifetime risk of endometrial cancer (EC).

Objective This case-case study aims to determine the frequency of the hMLH1, hMSH2, and hMSH6 MMR proteins and the factors (age, family history of cancer [FHC] related to LS, and body mass index [BMI]) associated to their absence in EC patients attending the University District Hospital of San Juan, Puerto Rico.

Materials and Methods Twenty cases were preliminary evaluated for the MMR protein expression by immunohistochemistry testing and classified as positive cases (presence of protein) or negative cases (absence of protein). The statistical analysis was based on the logistic regression model using the maximum likelihood estimation (MLE). The Bayesian approach was used to determine the posterior probability (posterior Pr[odds ratio {OR} > 1]).

Results Results showed absence for at least 1 MMR protein in 25% of the cases, 15% for hMLH1, and 10% for hMSH2. None of the cases showed an absence for hMSH6. The MLE demonstrated that women diagnosed with EC before the age of 50 (OR: 12.4; 95% confidence interval [CI] = 0.5–322.7), having FHC related to LS (OR: 17.7; 95% CI = 0.6–534.6), and having lower BMI (OR: 2.38; 95% CI = 0.39–14.28) present higher odds than their counterparts of lacking an MMR protein, once adjusted for potential predictors (P > 0.05). The posterior probability that an excess risk of lacking an MMR protein occurs was 95% or greater for each predictor.

Conclusions Our study in this Hispanic population supports previous studies in that younger age, FHC, and lower BMI are associated with increased odds of having an absence of MMR protein expression. Further studies with larger sample sizes should be performed.

  • Endometrial cancer
  • Lynch syndrome
  • MMR proteins

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  • Supported by grants of the National Institutes of Health, National Cancer Institute (5K22CA115913-03 and 1U54RR026139-01A1) and the National Institute on Minority Health and Health Disparities (U54MD007587-03).

  • The authors declare that there are no conflicts of interest.