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Endocrine Connections
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Tipo de obra :
Autre
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Oeuvre
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Documentos disponibles con este título uniforme (2)
Clasificado(s) por (Año de edición descendente) Refinar búsquedaBRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry / Jorge Hernando Donado Gómez ; Carlos Simón Duque Fisher ; Alejandro Vélez Hoyos
Título : BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry Tipo de documento : documento electrónico Autores : Jorge Hernando Donado Gómez, ; Carlos Simón Duque Fisher, ; Alejandro Vélez Hoyos, Fecha de publicación : 2019 Títulos uniformes : Endocrine Connections Idioma : Inglés (eng) Resumen : Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan–Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10−5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population Mención de responsabilidad : Ana P Estrada-Flórez, Mabel E Bohórquez, Alejandro Vélez, Carlos S Duque, Jorge H Donado, Gilbert Mateus, Cesar Panqueba-Tarazona, Guadalupe Polanco-Echeverry, Ruta Sahasrabudhe, Magdalena Echeverry, Luis G Carvajal-Carmona Referencia : Endocr Connect. 2019 Aug 1. pii: EC-19-0376. DOI (Digital Object Identifier) : 10.1530/EC-19-0376 PMID : 31454788 Derechos de uso : CC BY-NC En línea : https://ec.bioscientifica.com/view/journals/ec/8/9/EC-19-0376.xml Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry [documento electrónico] / Jorge Hernando Donado Gómez, ; Carlos Simón Duque Fisher, ; Alejandro Vélez Hoyos, . - 2019.
Obra : Endocrine Connections
Idioma : Inglés (eng)
Resumen : Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan–Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10−5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population Mención de responsabilidad : Ana P Estrada-Flórez, Mabel E Bohórquez, Alejandro Vélez, Carlos S Duque, Jorge H Donado, Gilbert Mateus, Cesar Panqueba-Tarazona, Guadalupe Polanco-Echeverry, Ruta Sahasrabudhe, Magdalena Echeverry, Luis G Carvajal-Carmona Referencia : Endocr Connect. 2019 Aug 1. pii: EC-19-0376. DOI (Digital Object Identifier) : 10.1530/EC-19-0376 PMID : 31454788 Derechos de uso : CC BY-NC En línea : https://ec.bioscientifica.com/view/journals/ec/8/9/EC-19-0376.xml Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD001217 AC-2019-006 Archivo digital Producción Científica Artículos científicos Disponible Documentos electrónicos
2019-006.pdfAdobe Acrobat PDF
Título : The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics Tipo de documento : documento electrónico Autores : Carlos Simón Duque Fisher, ; Jorge Hernando Donado Gómez, ; Alejandro Vélez Hoyos, Fecha de publicación : 2016 Títulos uniformes : Endocrine Connections Idioma : Inglés (eng) Palabras clave : HABP2 G534E thyroid cancer hispanics Resumen : Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population. Mención de responsabilidad : Mabel E Bohórquez, Ana P Estrada, Jacob Stultz, Ruta Sahasrabudhe, John Williamson, Paul Lott, Carlos S Duque, Jorge Donado, Gilbert Mateus, Fernando Bolaños, Alejandro Vélez, Magdalena Echeverry, Luis G Carvajal-Carmona Referencia : Endocr Connect. 2016 May;5(3):123-7. DOI (Digital Object Identifier) : 10.1530/EC-16-0017 PMID : 27097599 Derechos de uso : CC BY-NC En línea : https://ec.bioscientifica.com/view/journals/ec/5/3/123.xml Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics [documento electrónico] / Carlos Simón Duque Fisher, ; Jorge Hernando Donado Gómez, ; Alejandro Vélez Hoyos, . - 2016.
Obra : Endocrine Connections
Idioma : Inglés (eng)
Palabras clave : HABP2 G534E thyroid cancer hispanics Resumen : Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population. Mención de responsabilidad : Mabel E Bohórquez, Ana P Estrada, Jacob Stultz, Ruta Sahasrabudhe, John Williamson, Paul Lott, Carlos S Duque, Jorge Donado, Gilbert Mateus, Fernando Bolaños, Alejandro Vélez, Magdalena Echeverry, Luis G Carvajal-Carmona Referencia : Endocr Connect. 2016 May;5(3):123-7. DOI (Digital Object Identifier) : 10.1530/EC-16-0017 PMID : 27097599 Derechos de uso : CC BY-NC En línea : https://ec.bioscientifica.com/view/journals/ec/5/3/123.xml Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000538 AC-2016-013 Archivo digital Producción Científica Artículos científicos Disponible Documentos electrónicos
2016-013.pdfAdobe Acrobat PDF
