A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
Della Valle, Adriana; Rossi, Benedito Mauro; Palmero, Edenir Inez; Antelo, Marina; Vaccaro, Carlos Alberto; López Kostner, Francisco; Alvarez, Karin; Cruz Correa, Marcia; Bruno, Luisina Inés; Manoukian Forones, Nora; Rugeles Mindiola, Jorge Andrés; Buleje, José; Spirandelli, Florencia; Bohorquez, Mabel; Cock Rada, Alicia María; Sullcahuaman, Yasser; Nascimento, Ivana; Abe-Sandes, Kiyoko; Lino Silva, Leonardo S; Petracchi, Florencia; Mampel, Alejandra; Rodriguez, Yeni; Rossi, Norma Teresa; Benavides Yañez, Claudio; Rubio, Cladelis; Petta Lajus, Tirzah Braz; Lemos Silveira Lucas, Elizabeth; Jiménez, Geiner; Muñeton Peña, Carlos Mario; Reyes Silva, Carlos; Ayala Madrigal, María de la Luz; Sánchez del Monte, Julio; Quispe, Richard; Recalde, Alcides; Neffa, Florencia; Sarroca, Carlos; De Campos Reis Galvao, Henrique; Golubicki, Mariano; Piñero, Tamara A; Kalfayan, Pablo G; Ferro, Fabiana Alejandra; Gonzalez, María Laura; Pérez Mayoral, Julyann; Marques Pimenta, Celia Aparecida; Bello Uyaban, Sandra Patricia; Protzel, Ana; Chávez, Giuliana; Dueñas, Milagros; Guevara Gil, María Luisa; Spirandelli, Enrique; Chialina, Sergio; Echeverry, Magadalena; Palacios Fuenmayor, Luis José; Torres, Mariela; Bonfim Palma, Thais F; Cambados Héritas, Nadia; Martín, Claudio; Suárez, Alfonso; Vallejo, Michael; De Souza Timoteo, Ana Rafaela; Afanador Ayala, Carlos; Jaramillo Koupermann, Gabriela; Hernández Sandoval, Jesús Arturo; Hernández Guerrero, Angélica; Domínguez Barrera, Constantino; Bazo Alvarez, Juan Carlos; Wernhoff, Patrik; Plazzer, John Paul; Balavarca, Yesilda; Hovig, Eivind; Moller, Pal; Domínguez Valentin, Mev.
Eur. J. Cancer
; 119: 112-121, 2019. ilus
Artigo
em Inglês
| URUCAN | ID: bcc-5360
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(AU)
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