1. A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
- Author
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Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva C, Ayala-Madrigal ML, Del Monte JS, Quispe R, Recalde A, Neffa F, Sarroca C, de Campos Reis Galvão H, Golubicki M, Piñero TA, Kalfayan PG, Ferro FA, Gonzalez ML, Pérez-Mayoral J, Pimenta CAM, Uyaban SPB, Protzel A, Chávez G, Dueñas M, Gil MLG, Spirandelli E, Chialina S, Echeverry M, Fuenmayor LJP, Torres M, Palma TFB, Héritas NC, Martin C, Suárez A, Vallejo M, Rafaela de Souza Timoteo A, Ayala CA, Jaramillo-Koupermann G, Hernández-Sandoval JA, Guerrero AH, Dominguez-Barrera C, Bazo-Alvarez JC, Wernhoff P, Plazzer JP, Balavarca Y, Hovig E, Møller P, and Dominguez-Valentin M
- Subjects
- Adult, Colorectal Neoplasms, Hereditary Nonpolyposis diagnosis, DNA-Binding Proteins genetics, Epithelial Cell Adhesion Molecule genetics, Female, Humans, Male, Middle Aged, MutL Protein Homolog 1 genetics, MutS Homolog 2 Protein genetics, South America, Young Adult, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Genetic Predisposition to Disease genetics, Genetic Testing methods, Registries statistics & numerical data, Surveys and Questionnaires
- Abstract
We aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries, comprising a total of 12 countries from the region. Overall, 33 centres completed the survey, of which the oldest LS registry was established in 1992 in Sao Paulo (Brazil), and the youngest this year in San Jose (Costa Rica). In total, 87% (26/30) of the participating centres/registries belonging to the nine countries are performing genetic testing. Overall, 1352 suspected families were sequenced. Pathogenic variants were identified in 34% of the families, with slightly differing distribution of variants between females and males. Path_MLH1 variants were identified in 39% of females and 50% of males (p = 0.023), while path_MSH2 were identified in 37% of females and males, followed by path_PMS2 in 11% of females and 8% of males, path_MSH6 in 13% of females and 3% of males (p < 0.001) and path_EPCAM in 0.3% of females and 2% of males. In Latin America, 9 of 12 (75%) participating countries had implemented healthcare for LS. LS screening is inconsistently applied within Latin America healthcare systems because of structural differences in the healthcare systems between the countries., (Copyright © 2019 Elsevier Ltd. All rights reserved.)
- Published
- 2019
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