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المؤلفون: Maria Nirvana Formiga, Joseph A. Pinto, Caroline U. Sa, Celia Aparecida Marques Pimenta, Julio Sanchez del Monte, Carlos A. Vaccaro, Mabel Bohorquez, Patricia Esperon, Florencia Spirandelli, Patricia Ashton-Prolla, Carmelo Caballero, Gutiérrez Angulo Melva, Maria del Carmen Castro-Mujica, Edite P. Oliveira, Norma Teresa Rossi, Sergio Chialina, Ivana Nascimento, Claudia Barletta-Carrillo, Larissa Souza Mario Bueno, Geth, Yesilda Balavarca, Jorge Padron, Edenir Inêz Palmero, Francisco López-Köstner, Sabrina Daniela da Silva, Nora Manoukian Forones, Juan Carlos Bazo-Alvarez, Florencia Neffa, Alcides Recalde Cañete, Mariela Torres Loarte, Pål Møller, Constantino Dominguez-Barrera, Mev Dominguez-Valentin, Pablo Kalfayan, John-Paul Plazzer, Jose Buleje, Kiyoko Abe-Sandes, Florencia C. Cardoso, Dirce Maria Carraro, Eivind Hovig, Patrik Wernhoff, Rodrigo Santa Cruz Guindalini, María Laura Gonzalez, Paola Montenegro Beltran, Marina Antelo, Angela R. Solano, Henrique de Campos Reis Galvão, Sonia Tereza dos Santos Nogueira, Samuel Aguiar Junior, Carlos Sarroca, Alberto Ignacio Herrando, Leonardo S. Lino-Silva, Carlos Mario Muñetón Peña, Tamara Alejandra Piñero, Erika Maria Monteiro Santos, Benedito Mauro Rossi, Mariano Golubicki, Yasser Sullcahuaman, Enrique Spirandelli, Geiner Jimenez, Karin Alvarez, Giovana Tardin Torrezan, Daniel Cisterna, Yenni Rodriguez, Richard Quispe, Ricardo Fujita, Claudia Martin, Della Valle Adriana, Renata Gondim Meira Velame de Azevedo, Lina Nuñez
المصدر: Repositorio Académico USMP
Universidad San Martín de Porres-USMP
USMP-Institucional
Universidad de San Martín de Porres
instacron:USMP
International Journal of Cancer
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Male, Cancer Research, Latin Americans, Colorectal cancer, Mini Review, colorectal cancer, Biology, MLH1, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, lynch syndrome, América Latina, Neoplasias colorrectales, parasitic diseases, medicine, PMS2, Humans, Early Detection of Cancer, Genetic testing, Neoplasias colorrectales hereditarias sin poliposis, medicine.diagnostic_test, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Síndromes neoplásicos hereditarios, MSH6, Latin America, MutS Homolog 2 Protein, Oncology, MSH2, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Female, Guideline Adherence, MutL Protein Homolog 1, hereditary, Demography
الوصف: 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. Radium Hospital Foundation (Oslo, Norway)
وصف الملف: application/pdf
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المؤلفون: Erika Maria Monteiro-Santos, Carlos A. Vaccaro, Ximena Taborga, Rui Manuel Reis, Claudia Barletta-Carrillo, Henrique de Campos Reis Galvão, Carlos Sarroca, L. Lena Morillas, Patricia Ashton-Prolla, Julio Sanchez de Monte, Maria del Carmen Castro-Mujica, Florencia Spirandelli, Benedito Mauro Rossi, Norma Teresa Rossi, Yenni Rodriguez, Mev Dominguez-Valentin, Enrique Spirandelli, Hélène Tubeuf, Pål Møller, Edenir Inêz Palmero, Eivind Hovig, Pablo Kalfayan, André Escremim de Paula, Patrik Wernhoff, Sergio Chialina, Sabrina Daniela da Silva, Florencia Neffa, Luis Gustavo Capochin Romagnolo, Karin Alvarez, Alexandra Martins, Constantino Dominguez-Barrera, Adriana Della Valle, Tamara Alejandra Piñero, Susana Revollo, Richard Quispe, Melva Gutiérrez Angulo, Francisco López-Köstner
المساهمون: Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul [Porto Alegre] (UFRGS), Life and Health Sciences Research Institute [Braga] (ICVS), University of Minho [Braga], Institut Universitaire de Cardiologie et de Pneumologie de Québec (IUCPQ), Université Laval [Québec] (ULaval), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), et. al., Universidade do Minho
المصدر: BMC Cancer, Vol 17, Iss 1, Pp 1-26 (2017)
BMC Cancer
BMC Cancer, BioMed Central, 2017, 17 (1), ⟨10.1186/s12885-017-3599-4⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Pediatrics, [SDV]Life Sciences [q-bio], Medicina Básica [Ciências Médicas], DNA Mismatch Repair, 0302 clinical medicine, Risk Factors, PMS2, Medicine, Artikkel, Registries, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, Variants, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Mmr, Lynch syndrome, Founder Effect, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Population Surveillance, Ciências Médicas::Medicina Básica, Female, Research Article, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, RNA Splicing, Genetic Counseling, lcsh:RC254-282, 03 medical and health sciences, Medisinske Fag: 700 [VDP], Internal medicine, parasitic diseases, Genetics, Humans, VDP::Medisinske Fag: 700, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Genetic testing, Science & Technology, business.industry, Microsatellite instability, Computational Biology, Genetic Variation, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, Latin America, MSH2, business, Founder effect
الوصف: Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. Results: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. Conclusion: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.
Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse Sør-Øst (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, the French Association Recherche contre le Cancer (ARC) in the analysis, and interpretation of data, the Groupement des Entreprises Françaises dans la Lutte contre le Cancer (Gefluc) in the analysis, and interpretation of data, the Association Nationale de la Recherche et de la Technologie (ANRT, CIFRE PhD fellowship to H.T.) in the analysis, and interpretation of data and by the OpenHealth Institute in the analysis, and interpretation of data. Barretos Cancer Hospital received financial support by FINEP-CT-INFRA (02/2010)
info:eu-repo/semantics/publishedVersionوصف الملف: application/pdf
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