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Mabel E Bohórquez Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia

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Ana P Estrada Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia

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Jacob Stultz Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Ruta Sahasrabudhe Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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John Williamson Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Paul Lott Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Carlos S Duque Hospital Pablo Tobón Uribe, Medellín, Colombia

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Jorge Donado Hospital Pablo Tobón Uribe, Medellín, Colombia

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Gilbert Mateus Hospital Federico Lleras Acosta, Ibagué, Colombia

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Fernando Bolaños Hospital Hernando Moncaleano Perdomo, Neiva, Colombia

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Alejandro Vélez Hospital Pablo Tobón Uribe, Medellín, Colombia

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Magdalena Echeverry Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia

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Luis G Carvajal-Carmona Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia
Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Fundación de Genética y Genómica, Medellín, Colombia

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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.

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Ana P Estrada-Flórez Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia
Facultad de Ciencias para la Salud, Universidad de Caldas, Manizales, Caldas, Colombia

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Mabel E Bohórquez Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Alejandro Vélez Dinamica IPS, Medellín, Antioquia, Colombia
Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Carlos S Duque Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Jorge H Donado Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Gilbert Mateus Hospital Federico Lleras Acosta, Ibagué, Tolima, Colombia

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Cesar Panqueba-Tarazona Universidad Surcolombiana, Neiva, Huila, Colombia

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Guadalupe Polanco-Echeverry Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Ruta Sahasrabudhe Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Magdalena Echeverry Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Luis G Carvajal-Carmona Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Dinamica IPS, Medellín, Antioquia, Colombia
University of California Davis Comprehensive Cancer Center, Sacramento, California, USA
Fundación de Genética y Genómica, Medellín, Antioquia, Colombia

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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.

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