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Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico

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Abstract

Objective

Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2–4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico.

Methods

A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics.

Results

Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression.

Conclusions

Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.

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Availability of Data and Materials

The data obtained and analyzed on the current study is available from the corresponding author on reasonable request.

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Acknowledgments

The authors would like to thank the University of Puerto Rico/MD Anderson Cancer Center Partnership’s Data and Omics Sciences Core for their support and critical reading of the manuscript.

Funding

The research reported in this publication was partially supported by the Biostatistics, Epidemiology and Bioinformatics Core (BEBiC), now Data and Omics Sciences Core (DATAOmics), of the University of Puerto Rico/MD Anderson Cancer Center Partnership for Excellence in Cancer Research under Award Grant Number CA096297/CA096300 from the National Cancer Institute (NCI), by the National Institute on Minority Health and Health Disparities (NIMHD) and the National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health under Award Number U54MD007587, and by the Comprehensive Cancer Center of the UPR (a public corporation of the Government of Puerto Rico created in virtue of Law 230 of August 26, 2004 as amended). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Author information

Authors and Affiliations

  1. Division of Cancer Biology, University of Puerto Rico Comprehensive Cancer Center, San Juan, Puerto Rico

    Isabel Sierra, Julyann Pérez-Mayoral & Marcia Cruz-Correa

  2. Hato Rey Pathology Laboratories, San Juan, Puerto Rico

    Kathia Rosado

  3. Department of Allied Health Sciences, San Juan Bautista School of Medicine, Caguas, Puerto Rico

    Valerie Maldonado & Yaritza Diaz-Algorrí

  4. Department of Biology, University of Puerto Rico Rio Piedras Campus, San Juan, Puerto Rico

    Kimberly Alicea-Zambrana

  5. Colorectal Cancer Surgery Clinic, San Juan, Puerto Rico

    José S. Reyes, Marla Torres, Luis Tous & Nicolas Lopéz-Acevedo

  6. Department of Medicine, University of Puerto Rico Medical Sciences Campus, PO BOX 365067, San Juan, 00936, Puerto Rico

    Victor Carlo-Chevere & Marcia Cruz-Correa

  7. Department of Surgery, University of Puerto Rico Medical Sciences Campus, San Juan, PR, Puerto Rico

    Segundo Rodriguez-Quilichini

  8. Department of Biochemistry, University of Puerto Rico Medical Sciences Campus, San Juan, PR, Puerto Rico

    Marcia Cruz-Correa

  9. Johns Hopkins School of Medicine, Baltimore, MD, USA

    Marcia Cruz-Correa

Authors
  1. Isabel Sierra
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  10. Yaritza Diaz-Algorrí
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  12. Segundo Rodriguez-Quilichini
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  13. Marcia Cruz-Correa
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Contributions

IS, MCC, YDA, and KR conceived the study and participated in its design. IS, JPM, KAZ, and MCC participated in the design of the study and drafted the manuscript. VA, JSP, MT, LT, MLA, VICC, and SRQ participated in the coordination of data gathering. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Marcia Cruz-Correa.

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Conflict of Interest

The authors have no conflicts of interest to report. MCC is in an advisory board for EXACT Sciences and BeiGene Pharmaceutical.

Ethics Approval and Consent to Participate

The study was approved by the University of Puerto Rico Medical Sciences Campus Institutional Review Board.

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Not applicable.

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Sierra, I., Pérez-Mayoral, J., Rosado, K. et al. Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico. J. Racial and Ethnic Health Disparities 8, 1185–1191 (2021). https://doi.org/10.1007/s40615-020-00876-7

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  • DOI: https://doi.org/10.1007/s40615-020-00876-7

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