N60: Lynch Syndrome Registries In Latin America

A. Della Valle1, F. López-Kostner2, C. A. Vaccaro3, B. M. Rossi4, D. M. Carraro5, E. Palmero6, N. Manoukian Forones7, F. Spirandelli8, L. S. Lino-Silva9,, J. Sanchez del Monte10, J. Buleje11, C. M. Muñeton Peña12, Y. Sullcahuaman13, 14, K. Abe-Sandes15, I. Nascimento16, N. T. Rossi17, K. Alvarez2, F. Neffa1, T. Piñero3, 18, G. Tardin Torrezan5, S. Aguiar Junior5, C. Aparecida Marques Pimenta7, E. Spirandelli8, R. Fujita11, M. Torres Loarte13, 14, T. M. Bonfim Machado-Lopes19, T. Ferreria Bomfim-Palma19, L. Souza Mario Bueno20, S. T. dos Santos Nogueira21, C. Martin17, H. Galvão6, C. Dominguez-Barrera22, P. Wernhoff23, E. Hovig23, 24, P. Møller23, 25, 26, M. Dominguez-Valentin23

1 – Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo. Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay. 2 – Laboratorio de Oncología y Genética Molecular, Clínica Los Condes, Santiago, Chile. 3 – Hereditary Cancer Program (PROCANHE), Hospital Italiano, Buenos Aires, Argentina. 4 – Hospital Sirio Libanes, São Paulo, Brazil. 5 – AC Camargo Cancer Center, Sao Paulo, Brazil. 6 – Barretos Cancer Hospital, Barretos, Brazil. 7 – Gastroenterology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. 8 – Servicio de Coloproctologia y Asesoria Genetica en Cancer, Hospital Español de Rosario, Rosario, Argentina. 9 – Departamento de Patologia, Instituto Nacional de Cancerologia, Mexico City, Mexico. 10 – Departamento de Endoscopia, Instituto Nacional de Cancerologia, Mexico City, Mexico. 11 – Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Perú. 12 – Unidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia. 13 – Universidad Peruana de Ciencias Aplicadas, Lima, Peru. 14 – Instituto de Investigación Genomica, Lima Perú. 15 – Instituto de Ciências da Saúde/Universidade Federal da Bahia, Salvador, Brazil. 16 – Instituto de Ciência da Saúde e Núcleo de Oncologia da Bahia, Salvador, Brazil. 17 – Hospital Privado Universitario de Cordoba, Cordoba, Argentina. 18 – IMTIB-IU-Hospital Italiano de Buenos Aires. 19 – Serviço de Oncogenética, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Brazil. 20 – Complexo Hospital Universitário Professor Edgar Santos/Universidade Federal da Bahia, Bahia, Brasil. 21 – Oncoclin (Clínica oncológica), Amazonas Manaus, Brasil. 22 – Facultad de Enfermeria, Universidad Ricardo Palma, Lima, Peru. 23 – Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway. 24 – Department of Informatics, University of Oslo, Oslo, Norway. 25 – Department of Medical Genetics, Oslo University Hospital, Norway. 26 – Department of Human Medicine, Universität Witten/Herdecke, Germany.


Aim: Despite significant advances in cancer genetics research in Latin America, the access to routine medical care for hereditary cancer patients is still limited.

Aim: To assess clinical resources for Lynch syndrome (LS) management across Latin American countries.

Method: International survey including selection criteria, clinical and genetic information was sent out to the 26 recently described LS programs from 10/33 countries of Latin America (Vaccaro et al. submitted).

Results: Amsterdam or Bethesda guidelines were mostly used to select patients for a tumor screening test and/or genetic MMR sequencing in 15/26 LS programs from public (n=7) or private (n=8) hospitals located in large urban areas from Argentina, Brazil, Chile, Colombia, Mexico, Peru and Uruguay. 717 LS carriers have been identified with a mean age of 42.5 years (range 32-50.9) and a mean of 3.7 follow-up years (range 1-9.6).

Conclusion: Several research projects and publications have been implemented, generating knowledge of MMR variants in these populations to bring additional awareness to medical professionals and public health leaders. Participation in PLSD and international collaborations have been initiated to support the implementation of genetic testing and research in most of the countries of Latin America.