TY - JOUR
T1 - From colorectal cancer pattern to the characterization of individuals at risk
T2 - Picture for genetic research in Latin America
AU - in collaboration with GETH
AU - Vaccaro, Carlos Alberto
AU - López-Kostner, Francisco
AU - Adriana, Della Valle
AU - Palmero, Edenir Inez
AU - Rossi, Benedito Mauro
AU - Antelo, Marina
AU - Solano, Angela
AU - Carraro, Dirce Maria
AU - Forones, Nora Manoukian
AU - Bohorquez, Mabel
AU - Lino-Silva, Leonardo S.
AU - Buleje, Jose
AU - Spirandelli, Florencia
AU - Abe-Sandes, Kiyoko
AU - Nascimento, Ivana
AU - Sullcahuaman, Yasser
AU - Sarroca, Carlos
AU - Gonzalez, Maria Laura
AU - Herrando, Alberto Ignacio
AU - Alvarez, Karin
AU - Neffa, Florencia
AU - Galvão, Henrique Camposreis
AU - Esperon, Patricia
AU - Golubicki, Mariano
AU - Cisterna, Daniel
AU - Cardoso, Florencia C.
AU - Torrezan, Giovana Tardin
AU - Junior, Samuel Aguiar
AU - Pimenta, Célia Aparecida Marques
AU - da Cruz Formiga, Maria Nirvana
AU - Santos, Erika
AU - Caroline U., S.
AU - Oliveira, Edite P.
AU - Fujita, Ricardo
AU - Spirandelli, Enrique
AU - Jimenez, Geiner
AU - Guindalini, Rodrigo Santa Cruz
AU - de Azevedo, Renata Gondim Meira Velame
AU - Bueno, Larissa Souza Mario
AU - dos Santos Nogueira, Sonia Tereza
AU - Loarte, Mariela Torres
AU - Padron, Jorge
AU - del Carmen Castro-Mujica, Maria
AU - del Monte, Julio Sanchez
AU - Caballero, Carmelo
AU - Peña, Carlos Mario Muñeton
AU - Pinto, Joseph
AU - Barletta-Carrillo, Claudia
AU - Melva, Gutiérrez Angulo
AU - Bazo-Alvarez, Juan Carlos
N1 - Publisher Copyright:
© 2018 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.
PY - 2019/7/15
Y1 - 2019/7/15
N2 - 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.
AB - 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.
KW - Latin America
KW - colorectal cancer
KW - hereditary
KW - lynch syndrome
UR - http://www.scopus.com/inward/record.url?scp=85057987930&partnerID=8YFLogxK
U2 - 10.1002/ijc.31920
DO - 10.1002/ijc.31920
M3 - Review article
C2 - 30303536
AN - SCOPUS:85057987930
SN - 0020-7136
VL - 145
SP - 318
EP - 326
JO - International Journal of Cancer
JF - International Journal of Cancer
IS - 2
ER -