dc.date.accessioned | 2019-04-03T15:48:09Z | |
dc.date.available | 2019-04-03T15:48:09Z | |
dc.date.created | 2019-01-23T20:27:48Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Vaccaro, Carlos Alberto López‐Kostner, Francisco Della Valle, Adriana Palmero, Edenir Inêz Rossi, Benedito Mauro Antelo, Marina Solano, Angela Carraro, Dirce Maria Forones, Nora Manoukian Bohorquez, Mabel Lino‐Silva, Leonardo S. Buleje, Jose Spirandelli, Florencia Abe‐Sandes, Kiyoko Nascimento, Ivana Sullcahuaman, Yasser Sarroca, Carlos Gonzalez, Maria Laura Herrando, Alberto Ignacio Alvarez, Karin Neffa, Florencia Galvão, Henrique Camposreis Esperon, Patricia Golubicki, Mariano Cisterna, Daniel Cardoso, Florencia C. Torrezan, Giovana Tardin Junior, Samuel Aguiar Pimenta, Célia Aparecida Marques Formiga, Maria Nirvana da Cruz Santos, Erika Sá, Caroline U. Oliveira, Edite P. Fujita, Ricardo Spirandelli, Enrique Jimenez, Geiner Guindalini, Rodrigo Santa Cruz de Azevedo, Renata Gondim Meira Velame Bueno, Larissa Souza Mario Nogueira, Sonia Tereza dos Santos Loarte, Mariela Torres Padron, Jorge Castro‐Mujica, Maria del Carmen del Monte, Julio Sanchez Caballero, Carmelo Peña, Carlos Mario Muñeton Pinto, Joseph P. Barletta‐Carrillo, Claudia Melva, Gutiérrez Angulo Piñero, Tamara Alejandra Beltran, Paola Montenegro Ashton‐Prolla, Patricia Rodriguez, Yenni Quispe, Richard Rossi, Norma Teresa Martin, Claudia Chialina, Sergio Kalfayan, Pablo German Bazo‐Alvarez, Juan Carlos Cañete, Alcides Recalde Dominguez‐Barrera, Constantino Nuñez, Lina da Silva, Sabrina Daniela Balavarca, Yesilda Vernhoff, Patrik Plazzer, John‐Paul Møller, Pål Hovig, Eivind Dominguez-Valentin, Mev . From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America. International Journal of Cancer. 2018 | |
dc.identifier.uri | http://hdl.handle.net/10852/67527 | |
dc.description.abstract | Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%–80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency. | en_US |
dc.language | EN | |
dc.rights | Attribution-NonCommercial 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | |
dc.title | From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America | en_US |
dc.type | Journal article | en_US |
dc.creator.author | Vaccaro, Carlos Alberto | |
dc.creator.author | López‐Kostner, Francisco | |
dc.creator.author | Della Valle, Adriana | |
dc.creator.author | Palmero, Edenir Inêz | |
dc.creator.author | Rossi, Benedito Mauro | |
dc.creator.author | Antelo, Marina | |
dc.creator.author | Solano, Angela | |
dc.creator.author | Carraro, Dirce Maria | |
dc.creator.author | Forones, Nora Manoukian | |
dc.creator.author | Bohorquez, Mabel | |
dc.creator.author | Lino‐Silva, Leonardo S. | |
dc.creator.author | Buleje, Jose | |
dc.creator.author | Spirandelli, Florencia | |
dc.creator.author | Abe‐Sandes, Kiyoko | |
dc.creator.author | Nascimento, Ivana | |
dc.creator.author | Sullcahuaman, Yasser | |
dc.creator.author | Sarroca, Carlos | |
dc.creator.author | Gonzalez, Maria Laura | |
dc.creator.author | Herrando, Alberto Ignacio | |
dc.creator.author | Alvarez, Karin | |
dc.creator.author | Neffa, Florencia | |
dc.creator.author | Galvão, Henrique Camposreis | |
dc.creator.author | Esperon, Patricia | |
dc.creator.author | Golubicki, Mariano | |
dc.creator.author | Cisterna, Daniel | |
dc.creator.author | Cardoso, Florencia C. | |
dc.creator.author | Torrezan, Giovana Tardin | |
dc.creator.author | Junior, Samuel Aguiar | |
dc.creator.author | Pimenta, Célia Aparecida Marques | |
dc.creator.author | Formiga, Maria Nirvana da Cruz | |
dc.creator.author | Santos, Erika | |
dc.creator.author | Sá, Caroline U. | |
dc.creator.author | Oliveira, Edite P. | |
dc.creator.author | Fujita, Ricardo | |
dc.creator.author | Spirandelli, Enrique | |
dc.creator.author | Jimenez, Geiner | |
dc.creator.author | Guindalini, Rodrigo Santa Cruz | |
dc.creator.author | de Azevedo, Renata Gondim Meira Velame | |
dc.creator.author | Bueno, Larissa Souza Mario | |
dc.creator.author | Nogueira, Sonia Tereza dos Santos | |
dc.creator.author | Loarte, Mariela Torres | |
dc.creator.author | Padron, Jorge | |
dc.creator.author | Castro‐Mujica, Maria del Carmen | |
dc.creator.author | del Monte, Julio Sanchez | |
dc.creator.author | Caballero, Carmelo | |
dc.creator.author | Peña, Carlos Mario Muñeton | |
dc.creator.author | Pinto, Joseph P. | |
dc.creator.author | Barletta‐Carrillo, Claudia | |
dc.creator.author | Melva, Gutiérrez Angulo | |
dc.creator.author | Piñero, Tamara Alejandra | |
dc.creator.author | Beltran, Paola Montenegro | |
dc.creator.author | Ashton‐Prolla, Patricia | |
dc.creator.author | Rodriguez, Yenni | |
dc.creator.author | Quispe, Richard | |
dc.creator.author | Rossi, Norma Teresa | |
dc.creator.author | Martin, Claudia | |
dc.creator.author | Chialina, Sergio | |
dc.creator.author | Kalfayan, Pablo German | |
dc.creator.author | Bazo‐Alvarez, Juan Carlos | |
dc.creator.author | Cañete, Alcides Recalde | |
dc.creator.author | Dominguez‐Barrera, Constantino | |
dc.creator.author | Nuñez, Lina | |
dc.creator.author | da Silva, Sabrina Daniela | |
dc.creator.author | Balavarca, Yesilda | |
dc.creator.author | Vernhoff, Patrik | |
dc.creator.author | Plazzer, John‐Paul | |
dc.creator.author | Møller, Pål | |
dc.creator.author | Hovig, Eivind | |
dc.creator.author | Dominguez-Valentin, Mev | |
cristin.unitcode | 185,15,5,35 | |
cristin.unitname | Forskningsgruppen for biomedisinsk informatikk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 1664018 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=International Journal of Cancer&rft.volume=&rft.spage=&rft.date=2018 | |
dc.identifier.jtitle | International Journal of Cancer | |
dc.identifier.pagecount | 9 | |
dc.identifier.doi | http://dx.doi.org/10.1002/ijc.31920 | |
dc.identifier.urn | URN:NBN:no-70695 | |
dc.type.document | Tidsskriftartikkel | en_US |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0020-7136 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/67527/2/Vaccaro_et_al-2018-International_Journal_of_Cancer_%2BCRC.pdf | |
dc.type.version | PublishedVersion | |