A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

• Published in: European journal of cancer (1990) 2019-09, Vol.119, p.112-121
• Main Authors: Della Valle, Adriana, Rossi, Benedito Mauro, Palmero, Edenir Inêz, Antelo, Marina, Vaccaro, Carlos Alberto, López-Kostner, Francisco, Alvarez, Karin, Cruz-Correa, Marcia, Bruno, Luisina Inés, Forones, Nora Manoukian, Mindiola, Jorge Andres Rugeles, Buleje, José, Spirandelli, Florencia, Bohorquez, Mabel, Cock-Rada, Alicia Maria, Sullcahuaman, Yasser, Nascimento, Ivana, Abe-Sandes, Kiyoko, Lino-Silva, Leonardo S., Petracchi, Florencia, Mampel, Alejandra, Rodriguez, Yeni, Rossi, Norma Teresa, Yañez, Claudio Benavides, Rubio, Cladelis, Petta-Lajus, Tirzah Braz, Silveira-Lucas, Elizabeth Lemos, Jiménez, Geiner, Peña, Carlos Mario Muñeton, Reyes-Silva, Carlos, Ayala-Madrigal, María de la Luz, del Monte, Julio Sánchez, Quispe, Richard, Recalde, Alcides, Neffa, Florencia, Sarroca, Carlos, de Campos Reis Galvão, Henrique, Golubicki, Mariano, Piñero, Tamara A., Kalfayan, Pablo G., Ferro, Fabiana Alejandra, Gonzalez, Maria Laura, Pérez-Mayoral, Julyann, Pimenta, Celia Aparecida Marques, Uyaban, Sandra Patricia Bello, Protzel, Ana, Chávez, Guiliana, Dueñas, Milagros, Gil, María Luisa Guevara, Spirandelli, Enrique, Chialina, Sergio, Echeverry, Magdalena, Fuenmayor, Luis José Palacios, Torres, Mariela, Palma, Thais F.Bonfim, Héritas, Nadia Cambados, Martin, Claudia, Suárez, Alfonso, Vallejo, Michael, Rafaela de Souza Timoteo, Ana, Ayala, Carlos Afanador, Jaramillo-Koupermann, Gabriela, Hernández-Sandoval, Jesús Arturo, Guerrero, Angélica Hernandez, Dominguez-Barrera, Constantino, Bazo-Alvarez, Juan Carlos, Wernhoff, Patrik, Plazzer, John-Paul, Balavarca, Yesilda, Hovig, Eivind, Møller, Pål, Dominguez-Valentin, Mev
• Format: Article
• Language: English
• Subjects: Genetic testing; Latin America; Lynch syndrome
• ISSN: 0959-8049; 1879-0852
• DOI: 10.1016/j.ejca.2019.07.017

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