1
tesis de grado
Publicado 2022
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Identifica 161 pacientes con cáncer familiar y con ausencia de variantes patogénicas en los genes BRCA1, BRCA2, PTEN, TP53 o en los genes de reparación de apareamientos erróneos (mismatch repair, MMR). En esta cohorte, 108 casos correspondían al tipo de cáncer de mama familiar, 34 a cáncer colorrectal y 19 a cánceres múltiples de aparición temprana. Mediante el uso de un panel de 44 genes que predisponen al cáncer, se identificó 4.3 % (7/161) de variantes patogénicas o probablemente patogénicas y 54 % (87/161) de variantes de significado incierto (VUS). Las variantes patogénicas o probablemente patogénicas se identificaron mayoritariamente en individuos con cáncer de mama familiar (5/7) y se localizaron en 3 genes: ATM (3), CHEK2 (1), MSH6 (1), seguidos por individuos con cánceres múltiples de aparición temprana (2/7), afectando los genes CHEK2 y ATM. El análisis in ...
2
artículo
Objetivo: Investigar molecularmente la deficiencia en los genes de reparo de DNA (MMR) asociados al síndrome de Lynch. Materiales y métodos: Realizar los análisis de inmunohistoquímica e inestabilidad de microsatélites (MSI) en 5 familias con sospecha de síndrome de Lynch de acuerdo a los criterios clínicos de Amsterdam y/o Bethesda, atendidos en el Hospital Nacional Almanzor Aguinaga Asenjo de la ciudad de Chiclayo (Lambayeque-Perú) durante 2007-2010. Resultados. La falta de expresión de las proteínas MLH1/PMS2 y una alta MSI (MSI-H) fueron observados en un paciente de sexo masculino de 60 años diagnosticado con adenocarcinoma de grado I. Adicionalmente, se realizó el análisis mutacional puntual en el gen BRAF (V600E) a fin de descartar que se trate de un caso esporádico de cáncer colorrectal. La ausencia de mutación en el gen analizado asociado a los resultados molecula...
3
artículo
Publicado 2022
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Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly characterized. Purpose: To determine the spectrum and prevalence of cancer-predisposing germline variants and variants of uncertain significance (VUS) in high-risk individuals located in a Peruvian low-resource setting city. Methods: Individuals presenting clinical criteria for hereditary cancer syndromes or being unaffected with familial history of cancer were included in the study. Samples from a total of 84 individuals were subjected to a high-throughput DNA sequencing assay that targeted a panel of 94 cancer predisposition genes. The pathogenicity of detected germline variants was classified according to the established American College of Medical Genetics and Genomics ...
4
artículo
Publicado 2022
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Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly characterized. Purpose: To determine the spectrum and prevalence of cancer-predisposing germline variants and variants of uncertain significance (VUS) in high-risk individuals located in a Peruvian low-resource setting city. Methods: Individuals presenting clinical criteria for hereditary cancer syndromes or being unaffected with familial history of cancer were included in the study. Samples from a total of 84 individuals were subjected to a high-throughput DNA sequencing assay that targeted a panel of 94 cancer predisposition genes. The pathogenicity of detected germline variants was classified according to the established American College of Medical Genetics and Genomics ...
5
artículo
Publicado 2019
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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_PMS...
6
artículo
Background & Aims: In Latin America, genetic testing for Lynch syndrome (LS) has been partially implemented. Traditionally, LS diagnosis relied on the Amsterdam criteria and Bethesda guidelines, collectively known as traditional screening (TS). However, TS may miss up to 68% of LS cases. To improve detection rates, universal tumor screening (UTS) has been introduced. UTS involves screening all newly diagnosed patients with colorectal cancer for molecular markers to more effectively identify LS cases. Methods: Clinical and molecular data on 1684 patients with colorectal cancer, collected between 1999 and 2020, were provided by 24 Latin American genetic cancer registries and centers. Germline genetic testing was not consistently performed across all cases. Results: LS screening strategies were available for 72% (1209/1684) of cases, with germline testing conducted in one-quarter (304/1209)...
