ReviewInternational journal of cancer2019
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.
Abstract readComparative StudyReview
In one paragraph
Review in International journal of cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
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Who cites it
20 citing papers in PubMed.
- KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.International journal of cancer · 2026Article
- Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.European journal of human genetics : EJHG · 2025Article
- Global burden, trends, and risk factors of early-onset and late-onset colorectal cancer from 1990 to 2021, with projections to 2040: a population-based study.BMC gastroenterology · 2025Article
- Temporal Trends in Stomach and Colorectal Cancer Mortality by Racial Groups in Brazil (2000-2023): A Longitudinal Ecological Study.International journal of environmental research and public health · 2025Article
- Cancer genomics and bioinformatics in Latin American countries: applications, challenges, and perspectives.Frontiers in oncology · 2025Review
- Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.Frontiers in oncology · 2025Article
- Integrative multi-omics profiling of colorectal cancer from a Hispanic/Latino cohort of patients.medRxiv : the preprint server for health sciences · 2024Article
- A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.Familial cancer · 2024Article
- Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.Heliyon · 2024Article
- Article
- High OCT4 Expression Might Be Associated with an Aggressive Phenotype in Rectal Cancer.Cancers · 2023Article
- Colorectal cancer disparities in Latin America: Mortality trends 1990-2019 and a paradox association with human development.PloS one · 2023Article
- A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.International journal of molecular sciences · 2022Article
- An updated profile of the cancer burden, patterns and trends in Latin America and the Caribbean.Lancet regional health. Americas · 2022Article
- When guidelines face reality - Lynch syndrome screening in the setting of public health system in a developing country.Journal of community genetics · 2022Article
- Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.Frontiers in oncology · 2022Article
- DNA Mismatch Repair-Deficient Colorectal Carcinoma: Referral Rate for Genetic Cancer Risk Assessment in a Brazilian Cancer Center.Journal of gastrointestinal cancer · 2021Article
- Association of Family History and Life Habits in the Development of Colorectal Cancer: A Matched Case-Control Study in Mexico.International journal of environmental research and public health · 2021Article
- MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.Familial cancer · 2020Article
- Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association withCancers · 2020Article
Corrections and comments
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Authors and funding
70 authors.
Carlos Alberto VaccaroPROCANHE- Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB)-CONICET, Instituto Universitario del Hospital Italiano (IUHI), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Francisco López-KostnerLaboratorio de Oncología y Genética Molecular, Clínica Los Condes, Santiago, Chile.
Della Valle AdrianaHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Edenir Inez PalmeroMolecular Oncology Research Center, Barretos Cancer Hospital, Brazil & Barretos School of Health Sciences - FACISB, Barretos, SP, Brazil.
Benedito Mauro RossiHospital Sirio Libanes, São Paulo, Brazil.
Marina AnteloOncology Section of the Public Hospital of Gastroenterology "Dr. C. B. Udaondo", Buenos Aires, Argentina.
Angela SolanoSección de Genotipificación, Departamento de Análisis Clínicos, Centro de Educación Médica e Investigaciones Clínicas (CEMIC), Buenos Aires, Argentina.
Dirce Maria CarraroAC Camargo Cancer Center, Sao Paulo, Brazil.ORCID 0000-0001-5667-1418
Nora Manoukian ForonesGastroenterology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Mabel BohorquezGrupo de Investigación Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y de Ciencias de Salud, Universidad del Tolima, Ibagué, Colombia.
Leonardo S Lino-SilvaDepartamento de Patologia, Instituto Nacional de Cancerologia, Mexico City, Mexico.ORCID 0000-0002-7394-5123
Jose BulejeCentro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Perú.
Florencia SpirandelliServicio de Coloproctologia y Asesoria Genetica en Cancer, Hospital Español de Rosario, Rosario, Argentina.
Kiyoko Abe-SandesInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil.
Ivana NascimentoInstituto de Ciência da Saúde e Núcleo de Oncologia da Bahia, Salvador, Brazil.
Yasser SullcahuamanUniversidad Peruana de Ciencias Aplicadas, Lima, Peru.
Carlos SarrocaHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Maria Laura GonzalezPROCANHE- Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB)-CONICET, Instituto Universitario del Hospital Italiano (IUHI), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Alberto Ignacio HerrandoPROCANHE- Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB)-CONICET, Instituto Universitario del Hospital Italiano (IUHI), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Karin AlvarezLaboratorio de Oncología y Genética Molecular, Clínica Los Condes, Santiago, Chile.
Florencia NeffaHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Henrique Camposreis GalvãoMolecular Oncology Research Center, Barretos Cancer Hospital, Brazil & Barretos School of Health Sciences - FACISB, Barretos, SP, Brazil.
Patricia EsperonHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Mariano GolubickiMolecular Laboratory, Hospital of Gastroenterology "Dr. C. B. Udaondo", Buenos Aires, Argentina.
Daniel CisternaMolecular Laboratory, Hospital of Gastroenterology "Dr. C. B. Udaondo", Buenos Aires, Argentina.
Florencia C CardosoSección de Genotipificación, Departamento de Análisis Clínicos, Centro de Educación Médica e Investigaciones Clínicas (CEMIC), Buenos Aires, Argentina.
Giovana Tardin TorrezanAC Camargo Cancer Center, Sao Paulo, Brazil.
Samuel Aguiar JuniorAC Camargo Cancer Center, Sao Paulo, Brazil.
Célia Aparecida Marques PimentaGastroenterology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Maria Nirvana da Cruz FormigaAC Camargo Cancer Center, Sao Paulo, Brazil.
Erika SantosHospital Sirio Libanes, São Paulo, Brazil.
Caroline U SáHospital Sirio Libanes, São Paulo, Brazil.
Edite P OliveiraHospital Sirio Libanes, São Paulo, Brazil.
Ricardo FujitaCentro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Perú.
Enrique SpirandelliServicio de Coloproctologia y Asesoria Genetica en Cancer, Hospital Español de Rosario, Rosario, Argentina.
Geiner JimenezHospital Dr. Rafael Angel Calderón Guardia, Caja Costarricense de Seguro Social, San Jose, Costa Rica.
Rodrigo Santa Cruz GuindaliniFaculdade de Medicina-Universidade de São Paulo and Clínica de Oncologia/grupo (CLION), Clínica de Assistência à Mulher (CAM), Bahia, Brazil.
Renata Gondim Meira Velame de AzevedoCLION and CAM, Bahia, Brazil.
Larissa Souza Mario BuenoComplexo Hospital Universitário Professor Edgar Santos, Universidade Federal da Bahia, Bahia, Brazil.
Sonia Tereza Dos Santos NogueiraONCOCLIN (Clínica Oncológica), Manaus, Brazil.
Mariela Torres LoarteUniversidad Peruana de Ciencias Aplicadas, Lima, Peru.
Jorge PadronFundación Santa Fé de Bogotá, Bogota, Colombia.
Maria Del Carmen Castro-MujicaInstituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
Julio Sanchez Del MonteInstituto Nacional de Cancerologia de México, México City, México.
Carmelo CaballeroGenpath, Asunción, Paraguay.
Carlos Mario Muñeton PeñaUnidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Joseph PintoUnidad de Investigación Básica y Traslacional, Oncosalud-AUNA, Lima, Peru.
Claudia Barletta-CarrilloInstituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
Gutiérrez Angulo MelvaCentro Universitario de los Altos, Universidad de Guadalajara, Jalisco, México.
Tamara PiñeroPROCANHE- Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB)-CONICET, Instituto Universitario del Hospital Italiano (IUHI), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Paola Montenegro BeltranInstituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
Patricia Ashton-ProllaDepartamento de Genética da Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço de Genética Médica do Hospital de Clinicas de Porto Alegre (HCPA) & Rede Brasileira de Câncer Hereditário, Porto Alegre, Brazil.
Yenni RodriguezClinica del Country, Bogota, Colombia.
Richard QuispeLaboratorio de Genética Molecular del Instituto de Servicios de Laboratorio de Diagnóstico e Investigación en Salud (SELADIS), La Paz, Bolivia.
Norma Teresa RossiHospital Privado Universitario de Cordoba, Cordoba, Argentina.
Claudia MartinHospital Privado Universitario de Cordoba, Cordoba, Argentina.
Sergio ChialinaServicio de Coloproctologia y Asesoria Genetica en Cancer, Hospital Español de Rosario, Rosario, Argentina.
Pablo German KalfayanPROCANHE- Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB)-CONICET, Instituto Universitario del Hospital Italiano (IUHI), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Juan Carlos Bazo-AlvarezResearch Department of Primary Care and Population Health, University College London, London, United Kingdom.
Alcides Recalde CañeteFacultad de Ciencias Medicas Médicas, Universidad Nacional de Asunción, Asuncion, Paraguay.
Constantino Dominguez-BarreraFacultad de Enfermeria, Universidad Particular Ricardo Palma, Lima, Peru.
Lina NuñezNational Institute of Cancer, Buenos Aires, Argentina.
Sabrina Daniela Da SilvaLady Davis Institute for Medical Research and Segal Cancer Center, Jewish General Hospital, Montreal, QC, Canada.
Yesilda BalavarcaDivision of Preventive Oncology, German Cancer Research Center and National Center for Tumor Diseases, Heidelberg, Germany.ORCID 0000-0002-4950-0554
Patrik WernhoffDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
John-Paul PlazzerColorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Pål MøllerDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
Eivind HovigDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-9103-1077
Mev Dominguez-ValentinDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.ORCID 0000-0001-7856-0057
GETH
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Colorectal Neoplasms, Hereditary NonpolyposisEarly Detection of CancerFemaleGuideline AdherenceHumansLatin AmericaMaleMutL Protein Homolog 1MutS Homolog 2 ProteinPractice Guidelines as TopicRisk AssessmentMLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 Proteincolorectal cancerhereditaryLatin Americalynch syndrome
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