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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Patrik Wernhoff, Sergio Chialina, María Luisa Guevara Gil, María Laura Gonzalez, Luis José Palacios Fuenmayor, Constantino Dominguez-Barrera, Ana Protzel, Leonardo S. Lino-Silva, Michael Vallejo, Francisco López-Köstner, Karin Alvarez, Celia Aparecida Marques Pimenta, Julio Sanchez del Monte, Nadia Cambados Héritas, Carlos Mario Muñetón Peña, Jorge Andres Rugeles Mindiola, Elizabeth Lemos Silveira-Lucas, Eivind Hovig, Luisina Inés Bruno, Carlos Reyes-Silva, Alicia Cock-Rada, Florencia Neffa, Thais F Bonfim Palma, Richard Quispe, Alcides Recalde, Gabriela Jaramillo-Koupermann, Fabiana Alejandra Ferro, Norma Teresa Rossi, Mev Dominguez-Valentin, Florencia Spirandelli, Edenir Inêz Palmero, John-Paul Plazzer, Tirzah Braz Petta-Lajus, Sandra Patricia Bello Uyaban, Adriana Della Valle, Pål Møller, Ivana Nascimento, Marina Antelo, Jose Buleje, Kiyoko Abe-Sandes, Alejandra Mampel, Ana Rafaela de Souza Timoteo, Enrique Spirandelli, Julyann Pérez-Mayoral, Mariano Golubicki, Yasser Sullcahuaman, Alfonso Suárez, Mariela Torres, Henrique de Campos Reis Galvão, Carlos Sarroca, Magdalena Echeverry, Carlos Afanador Ayala, Claudia Martin, Guiliana Chávez, Jesús Arturo Hernández-Sandoval, Angélica Hernandez Guerrero, Geiner Jimenez, Yeni Rodriguez, Cladelis Rubio, Tamara Alejandra Piñero, Marcia Cruz-Correa, Pablo Kalfayan, Benedito Mauro Rossi, Florencia Petracchi, María de la Luz Ayala-Madrigal, Yesilda Balavarca, Juan Carlos Bazo-Alvarez, Carlos A. Vaccaro, Mabel Bohorquez, Milagros Dueñas, Nora Manoukian Forones, and Claudio Benavides Yañez
- Subjects
0301 basic medicine ,Adult ,Male ,Cancer Research ,Latin Americans ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Surveys and Questionnaires ,Medicine ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Registries ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Middle Aged ,South America ,medicine.disease ,Epithelial Cell Adhesion Molecule ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Lynch syndrome ,DNA-Binding Proteins ,030104 developmental biology ,MutS Homolog 2 Protein ,Oncology ,030220 oncology & carcinogenesis ,Female ,business ,MutL Protein Homolog 1 ,Demography - 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.
- Published
- 2019