From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
Authors: Vaccaro Carlos Alberto , López‐Kostner Francisco , Adriana Della Valle , Palmero Edenir Inez , Rossi Benedito Mauro , Antelo Marina , Solano Angela , Carraro Dirce Maria , Forones Nora Manoukian , Bohorquez Mabel , Lino‐Silva Leonardo S. , Buleje Jose , Spirandelli Florencia , Abe‐Sandes Kiyoko , Nascimento Ivana , Sullcahuaman Yasser , Sarroca Carlos , Gonzalez Maria Laura , Herrando Alberto Ignacio , Alvarez Karin , Neffa Florencia , Galvão Henrique Camposreis , Esperon Patricia , Golubicki Mariano , Cisterna Daniel , Cardoso Florencia C. , Torrezan Giovana Tardin , Junior Samuel Aguiar , Pimenta Célia Aparecida Marques , da Cruz Formiga Maria Nirvana , Santos Erika , Sá Caroline U. , Oliveira Edite P. , Fujita Ricardo , Spirandelli Enrique , Jimenez Geiner , Guindalini Rodrigo Santa Cruz , de Azevedo Renata Gondim Meira Velame , Bueno Larissa Souza Mario , dos Santos Nogueira Sonia Tereza , Loarte Mariela Torres , Padron Jorge , del Carmen Castro‐Mujica Maria , del Monte Julio Sanchez , Caballero Carmelo , Peña Carlos Mario Muñeton , Pinto Joseph , Barletta‐Carrillo Claudia , Melva Gutiérrez Angulo , Piñero Tamara , Beltran Paola Montenegro , Ashton‐Prolla Patricia , Rodriguez Yenni , Quispe Richard , Rossi Norma Teresa , Martin Claudia , Chialina Sergio , Kalfayan Pablo German , Bazo‐Alvarez Juan Carlos , Cañete Alcides Recalde , Dominguez‐Barrera Constantino , Nuñez Lina , Da Silva Sabrina Daniela , Balavarca Yesilda , Wernhoff Patrik , Plazzer John‐Paul , Møller Pål , Hovig Eivind , Dominguez‐Valentin Mev ,   in collaboration with GETH
Published: October 2018

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.