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. 2025 Aug;23(9):1642-1654.
doi: 10.1016/j.cgh.2024.12.026. Epub 2025 Feb 24.

Characterization of Screening Strategies for Lynch Syndrome in Latin America

Anthony Vladimir Campos-Segura  1 , Karin Alvarez  2 , Alexis German Murillo Carrasco  3 , Benedito Mauro Rossi  4 , Mabel Bohorquez  5 , Florencia Spirandelli  6 , Claudio Benavides  7 , Aina Balto  8 , Adriana Della Valle  9 , Luisina Inés Bruno  10 , Francisco Lopez-Kostner  2 , Marcia Cruz-Correa  11 , Julio Sanchez Del Monte  12 , Jorge Rugeles  13 , Jesica Magalí Ramirez  14 , Ivana Nascimento  15 , Nora Manoukian Forones  16 , Alicia Maria Cock-Rada  17 , Carlos Reyes-Silva  18 , Silvia Avila  19 , Leandro Apolinario  20 , Norma Teresa Rossi  21 , Claudia Martin  22 , Yasser Sulcahuaman  23 , Carlos Alberto Vaccaro  24 , Maria Del Carmen Castro-Mujica  25 , Carlos Mario Muñeton Peña  26 , Roseane Bicalho Assis  27 , Elizabeth Silveira-Lucas  28 , Chahuan Badir  29 , Daniel Velez-Bohorquez  5 , Gaston Boggio  6 , Enrique Spirandelli  30 , Florencia Neffa  9 , Patricia Esperon  31 , Florencia Carusso  9 , Carolina Vergara  9 , Mora Amat  10 , María Teresa Pombo  10 , Laura Noro  10 , Marjorie De la Fuente  32 , Tamara Canales  33 , Alessandra Cassana  34 , Gonzalo Carrasco-Avino  35 , Julyann Pérez-Mayoral  36 , Maria Gonzalez Pons  36 , Angélica Hernández Guerrero  12 , Silvia Vidal Millán  12 , Sandra Beatriz Furfuro  37 , Taisa Manuela Bonfim Machado Lopes  38 , Thais Ferreira Bomfim Palma  38 , Juliana Cortes Freitas  38 , Maria Betânia Pereira Toralles  38 , Thamara Claudia Ferreira Melo  35 , Celia Aparecida Marques Pimenta  16 , Luis José Palacios Fuenmayor  17 , Gabriela Galvez-Salazar  18 , Gabriela Jaramillo-Koupermann  9 , Mariella Torres  23 , Walter Hernán Pavicic  24 , Ignacio Alberto Herrando  24 , Juan Pablo Santino  24 , Fabiana Alejandra Ferro  24 , Carlos Afanador Ayala  26 , Luri Drumond Louro  27 , Silvio Conedera  39 , Vessela Kristensen  39 , Giovana Tardin Torrezan  1 , Constantino Dominguez-Barrera  40 , María de la Luz Ayala Madrigal  41 , Melva Gutierrez  42 , Patrik Wernhoff  39 , Eivind Hovig  43 , John-Paul Plazzer  44 , Pål Møller  45 , Yesilda Balavarca  46 , Mev Dominguez-Valentin  47 ; LA-GETH
Affiliations
Free article

Characterization of Screening Strategies for Lynch Syndrome in Latin America

Anthony Vladimir Campos-Segura et al. Clin Gastroenterol Hepatol. 2025 Aug.
Free article

Abstract

Background & aims: In Latin America, genetic testing for Lynch syndrome (LS) has been partially implemented. Traditionally, LS diagnosis relied on the Amsterdam criteria and Bethesda guidelines, collectively known as traditional screening (TS). However, TS may miss up to 68% of LS cases. To improve detection rates, universal tumor screening (UTS) has been introduced. UTS involves screening all newly diagnosed patients with colorectal cancer for molecular markers to more effectively identify LS cases.

Methods: Clinical and molecular data on 1684 patients with colorectal cancer, collected between 1999 and 2020, were provided by 24 Latin American genetic cancer registries and centers. Germline genetic testing was not consistently performed across all cases.

Results: LS screening strategies were available for 72% (1209/1684) of cases, with germline testing conducted in one-quarter (304/1209) of these. Most cases (78%; n = 943) underwent UTS, primarily in Argentina, Chile, and Uruguay, whereas 22% (266/1209) were screened through TS. UTS identified deficient mismatch repair tumors in 29% (272/943) of cases. The rate of LS confirmed by sequencing was higher with UTS (53.3%; 65/122) compared with TS (47.8%; 87/182), although the difference was not statistically significant (P = .175).

Conclusions: UTS is widely implemented in Latin America; however, the low detection rate of LS demonstrated in this study raises concerns about the routine use of germline genetic testing in our region. Our study provides real-world outcomes that highlight disparities in screening uptake and counseling referrals, illustrating the challenges that Latin American countries face in hereditary cancer syndrome screening. These results contribute to the rationale for designing effective screening strategies for LS, which may also be applicable to other hereditary cancer syndromes, ultimately.

Keywords: Latin America; Lynch Syndrome; Traditional Screening; Universal Tumor Screening.

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