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. 2021 Oct;8(5):1185-1191.
doi: 10.1007/s40615-020-00876-7. Epub 2020 Oct 2.

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

Isabel Sierra  1 , Julyann Pérez-Mayoral  1 , Kathia Rosado  2 , Valerie Maldonado  3 , Kimberly Alicea-Zambrana  4 , José S Reyes  5 , Marla Torres  5 , Luis Tous  5 , Nicolas Lopéz-Acevedo  5 , Yaritza Diaz-Algorrí  3 , Victor Carlo-Chevere  6 , Segundo Rodriguez-Quilichini  7 , Marcia Cruz-Correa  8   9   10   11
Affiliations

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

Isabel Sierra et al. J Racial Ethn Health Disparities. 2021 Oct.

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.

Keywords: Colorectal cancer; Hispanics; Lynch syndrome; Universal screening.

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Conflict of interest statement

Conflicts of Interest

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

Figures

Figure 1:
Figure 1:
Location of participating hospitals and pathology laboratory.
Figure 2:
Figure 2:
Algorithm for the classification of colorectal cancer patients after universal screening for Lynch Syndrome. [19]
See this image and copyright information in PMC

References

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