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

Vaccaro CA1, López-Kostner F2, Valle AD3, Palmero EI4, Rossi BM5, Antelo M6, Solano A7, Carraro DM8, Forones NM9, Bohorquez M10, Lino-Silva LS11, Buleje J12, Spirandelli F13, Abe-Sandes K14, Nascimento I15, Sullcahuaman Y16,17, Sarroca C3, Gonzalez ML1, Herrando AI1, Alvarez K2, Neffa F3, Campos Reis Galvão H4, Esperon P3, Golubicki M18, Cisterna D18, Cardoso FC7, Torrezan GT8, Junior SA8, Pimenta CAM9, da Cruz Formiga MN8, Santos E5, Sá CU5, Oliveira EP5, Fujita R12, Spirandelli E13, Jimenez G19, Guindalini RSC20, de Azevedo RGMV21, Bueno LSM22, Dos Santos Nogueira ST23, Loarte MT16,17, Padron J24, Del Carmen Castro-Mujica M25, Del Monte JS26, Caballero C27, Peña CMM28, Pinto J29, Barletta-Carrillo C25, Angulo MG30, Piñero T1,31, Beltran PM25, Ashton-Prolla P32, Rodriguez Y33, Quispe R34, Rossi NT35, Martin C35, Chialina S13, Kalfayan PG1, Bazo-Alvarez JC36,37, Cañete AR38, Dominguez-Barrera C39, Nuñez L40, Da Silva SD41, Balavarca Y42, Wernhoff P43, Plazzer JP44, Møller P43,45,46, Hovig E43,47, Dominguez-Valentin M43; in collaboration with GETH.

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Abstract

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. This article is protected by copyright. All rights reserved.