From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

Carlos Alberto Vaccaro, Francisco López-Kostner, Della Valle Adriana, Edenir Inez Palmero, Benedito Mauro Rossi, Marina Antelo, Angela Solano, Dirce Maria Carraro, Nora Manoukian Forones, Mabel Bohorquez, Leonardo S. Lino-Silva, Jose Buleje, Florencia Spirandelli, Kiyoko Abe-Sandes, Ivana Nascimento, Yasser Sullcahuaman, Carlos Sarroca, Maria Laura Gonzalez, Alberto Ignacio Herrando, Karin AlvarezFlorencia Neffa, Henrique Camposreis Galvão, Patricia Esperon, Mariano Golubicki, Daniel Cisterna, Florencia C. Cardoso, Giovana Tardin Torrezan, Samuel Aguiar Junior, Célia Aparecida Marques Pimenta, Maria Nirvana da Cruz Formiga, Erika Santos, S. Caroline U., Edite P. Oliveira, Ricardo Fujita, Enrique Spirandelli, Geiner Jimenez, Rodrigo Santa Cruz Guindalini, Renata Gondim Meira Velame de Azevedo, Larissa Souza Mario Bueno, Sonia Tereza dos Santos Nogueira, Mariela Torres Loarte, Jorge Padron, Maria del Carmen Castro-Mujica, Julio Sanchez del Monte, Carmelo Caballero, Carlos Mario Muñeton Peña, Joseph Pinto, Claudia Barletta-Carrillo, Gutiérrez Angulo Melva, Tamara Piñero, Paola Montenegro Beltran, Patricia Ashton-Prolla, Yenni Rodriguez, Richard Quispe, Norma Teresa Rossi, Claudia Martin, Sergio Chialina, Pablo German Kalfayan, Juan Carlos Bazo-Alvarez, Alcides Recalde Cañete, Constantino Dominguez-Barrera, Lina Nuñez, Sabrina Daniela Da Silva, Yesilda Balavarca, Patrik Wernhoff, John Paul Plazzer, Pål Møller, Eivind Hovig, Mev Dominguez-Valentin

Research output: Contribution to journalScientific review

3 Scopus citations


© 2018 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC. Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%–80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.
Original languageAmerican English
Pages (from-to)318-326
Number of pages9
JournalInternational Journal of Cancer
StatePublished - 15 Jul 2019
Externally publishedYes

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    Vaccaro, C. A., López-Kostner, F., Adriana, D. V., Palmero, E. I., Rossi, B. M., Antelo, M., Solano, A., Carraro, D. M., Forones, N. M., Bohorquez, M., Lino-Silva, L. S., Buleje, J., Spirandelli, F., Abe-Sandes, K., Nascimento, I., Sullcahuaman, Y., Sarroca, C., Gonzalez, M. L., Herrando, A. I., ... Dominguez-Valentin, M. (2019). From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America. International Journal of Cancer, 318-326.