Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• European journal of cancer (1990), 2019-09, Vol.119, p.112-121

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2019

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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. •In Latin America, 9 of 12 (75%) participating countries had implemented healthcare for Lynch syndrome (LS). LS screening is inconsistently applied within Latin America healthcare systems as the structure of the healthcare differed between the countries.•Path_MMR variants were described in 459 of 1352 (34%) families tested, most of which in the MLH1 or MSH2 genes followed by PMS2.•Path_MLH1 variants showed predominance in males, while path_MSH6 variants were higher in female carriers.•The countries with well-functioning systems may serve as healthcare models for other forms of inherited cancers.