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Eur J Cancer. 2019 Aug 20;119:112-121. doi: 10.1016/j.ejca.2019.07.017. [Epub ahead of print]

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

Author information

1
Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo. Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
2
Hospital Sirio Libanes, São Paulo, Brazil.
3
Molecular Oncology Research Center, Barretos Cancer Hospital, Brazil and Barretos School of Health Sciences, Dr. Paulo Prata - FACISB, Barretos, Brazil.
4
Oncology Section of the Public Hospital of Gastroenterology "Dr. C. B. Udaondo", Buenos Aires, Argentina.
5
Hereditary Cancer Program (PROCANHE), Hospital Italiano, Buenos Aires, Argentina and Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), CONICET, Instituto Universitario (IUHI), Hospital Italiano de Buenos Aires (HIBA), Argentina.
6
Laboratorio de Oncología y Genética Molecular, Clínica Los Condes, Santiago, Chile.
7
University of Puerto Rico Medical Sciences Campus Department of Medicine, San Juan, Puerto Rico.
8
Instituto Alexander Fleming, Buenos Aires, Argentina.
9
Gastroenterology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
10
Instituto Medico de Alta Tecnologia Oncomedica, Monteria, Colombia.
11
Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Peru.
12
Asesoría Genética Oncologica Sanatorio Parque, GO, Rosario, Argentina.
13
Grupo de Investigación Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y de Ciencias de Salud, Universidad Del Tolima, Ibagué, Colombia.
14
Instituto de Cancerología Las Americas, Medellin, Colombia.
15
Universidad Peruana de Ciencias Aplicadas, Lima, Peru; Instituto de Investigación Genomica, Lima Peru.
16
Instituto de Ciências da Saúde/Universidade Federal da Bahia, Salvador, Brazil.
17
Departamento de Patologia, Instituto Nacional de Cancerologia, Mexico City, Mexico.
18
Centro de Educacion Medica e Investigaciones Clinicas (CEMIC), Buenos Aires, Argentina.
19
Hospital Universitario, Instituto de Genética, Area Genética UNde Cuyo, COIR Centro Oncológico de Integración Regional, Mendoza, Argentina.
20
Clinica Del Country, Bogota, Colombia.
21
Hospital Privado Universitario de Cordoba, Cordoba, Argentina.
22
Hospital Regional de Concepción, Concepcion, Chile.
23
Sociedad de Cirugía de Bogotá - Hospital de San José, Colombia.
24
Liga Norte-Riograndense Contra o Cancer, Natal, Brazil.
25
Consultorio Genetica Clinica, Porto Alegre, Brazil.
26
Hospital Dr. Rafael Ángel Calderón Guardia, San José, Costa Rica.
27
Unidad de Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
28
Hospital de Especialidades Eugenio Espejo, Subproceso de Anatomía Patológica, Área de Genética Clínica, Quito, Ecuador.
29
Instituto de Genética Humana "Dr. Enrique Corona Rivera" y Doctorado en Genética Humana, Centro Universitario de Ciencias de La Salud, Universidad de Guadalajara, Jalisco, Mexico.
30
Departamento de Gastroenterologia, Instituto Nacional de Cancerologia de México, México City, Mexico.
31
Laboratorio de Genética Molecular Del Instituto de Servicios de Laboratorio de Diagnóstico e Investigación en Salud (SELADIS), La Paz, Bolivia.
32
Facultad de Ciencias Medicas Médicas, Universidad Nacional de Asunción, Asuncion, Paraguay.
33
Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Peru; Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru.
34
Facultad de Enfermería, Universidad Particular Ricardo Palma, Lima, Peru.
35
Research Department of Primary Care and Population Health, University College London, UK; Instituto de Investigación, Universidad Católica Los Ángeles de Chimbote (ULADECH-Católica), Chimbote, Peru.
36
Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
37
Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
38
Independent Researcher, Heidelberg, Germany.
39
Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway; Institute for Informatics, University of Oslo, Oslo, Norway.
40
Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway; Department of Human Medicine, Universität Witten/Herdecke, Germany.
41
Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway. Electronic address: Mev.Dominguez.Valentin@rr-research.no.

Abstract

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.

KEYWORDS:

Genetic testing; Latin America; Lynch syndrome

PMID:
31442815
DOI:
10.1016/j.ejca.2019.07.017

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