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Characterization of Screening Strategies for Lynch Syndrome in Latin America

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Campos-Segura, Anthony Vladimir, Alvarez, Karin, Murillo Carrasco, Alexis German, Rossi, Benedito Mauro, Bohorquez, Mabel, Spirandelli, Florencia, Benavides, Claudio, Balto, Aina, Della Valle, Adriana, Bruno, Luisina Inés, Lopez-Kostner, Francisco, Cruz-Correa, Marcia, Del Monte, Julio Sanchez, Rugeles, Jorge, Ramirez, Jesica Magalí, Nascimento, Ivana, Forones, Nora Manoukian, Cock-Rada, Alicia Maria, Reyes-Silva, Carlos, Avila, Silvia, Apolinario, Leandro, Rossi, Norma Teresa, Martin, Claudia, Sulcahuaman, Yasser, Vaccaro, Carlos Alberto, Castro-Mujica, Maria del Carmen, Muñeton Peña, Carlos Mario, Assis, Roseane Bicalho, Silveira-Lucas, Elizabeth, Badir, Chahuan, Velez-Bohorquez, Daniel, Boggio, Gaston, Spirandelli, Enrique, Neffa, Florencia, Esperon, Patricia, Carusso, Florencia, Vergara, Carolina, Amat, Mora, Pombo, María Teresa, Noro, Laura, De la Fuente, Marjorie, Canales, Tamara, Cassana, Alessandra, Carrasco-Avino, Gonzalo, Pérez-Mayoral, Julyann, Gonzalez Pons, Maria, Hernández Guerrero, Angélica, Vidal Millán, Silvia, Furfuro, Sandra Beatriz, Machado Lopes, Taisa Manuela Bonfim, Bomfim Palma, Thais Ferreira, Freitas, Juliana Cortes, Toralles, Maria Betânia Pereira, Melo, Thamara Claudia Ferreira, Pimenta, Celia Aparecida Marques, Palacios Fuenmayor, Luis José, Galvez-Salazar, Gabriela, Jaramillo-Koupermann, Gabriela, Torres, Mariella, Pavicic, Walter Hernán, Herrando, Ignacio Alberto, Santino, Juan Pablo, Ferro, Fabiana Alejandra, Ayala, Carlos Afanador, Louro, Luri Drumond, Conedera, Silvio, Kristensen, Vessela, Torrezan, Giovana Tardin, Dominguez-Barrera, Constantino, Ayala Madrigal, María de la Luz, Gutierrez, Melva, Wernhoff, Patrik, Hovig, Eivind, Plazzer, John Paul, Møller, Pål, Balavarca, Yesilda, Dominguez-Valentin, Mev

Publicado 2025

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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)...