Familial medullary thyroid carcinoma: case report and literature review

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Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multi...

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Autores principales: Barletta Carrillo, Claudia Fiorella, Poterico Rojas, Julio Antonio, Barrionuevo Cornejo, Carlos, Casavilca Zambrano, Sandro, Pinedo Cárdenas, Alcides, Quispe Santibañez, Isela, Castro Mujica, María del Carmen
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2018
Materias:
proteínas proto-oncogénicas c-ret
análisis de secuencia de ADN
neoplasias de la tiroides
neoplasia endocrina múltiple
proto-oncogene proteins c-ret
sequence analysis
DNA
thyroid neoplasms
multiple endocrine neoplasia
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/20947
Aporte de:
Revistas de la UNC de Universidad Nacional de Córdoba
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institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-10
container_title_str Revistas de la UNC
language Español
format Artículo revista
topic proteínas proto-oncogénicas c-ret
análisis de secuencia de ADN
neoplasias de la tiroides
neoplasia endocrina múltiple
proto-oncogene proteins c-ret
sequence analysis
DNA
thyroid neoplasms
multiple endocrine neoplasia
spellingShingle proteínas proto-oncogénicas c-ret
análisis de secuencia de ADN
neoplasias de la tiroides
neoplasia endocrina múltiple
proto-oncogene proteins c-ret
sequence analysis
DNA
thyroid neoplasms
multiple endocrine neoplasia
Barletta Carrillo, Claudia Fiorella
Poterico Rojas, Julio Antonio
Barrionuevo Cornejo, Carlos
Casavilca Zambrano, Sandro
Pinedo Cárdenas, Alcides
Quispe Santibañez, Isela
Castro Mujica, María del Carmen
Familial medullary thyroid carcinoma: case report and literature review
topic_facet proteínas proto-oncogénicas c-ret
análisis de secuencia de ADN
neoplasias de la tiroides
neoplasia endocrina múltiple
proto-oncogene proteins c-ret
sequence analysis
DNA
thyroid neoplasms
multiple endocrine neoplasia
author Barletta Carrillo, Claudia Fiorella
Poterico Rojas, Julio Antonio
Barrionuevo Cornejo, Carlos
Casavilca Zambrano, Sandro
Pinedo Cárdenas, Alcides
Quispe Santibañez, Isela
Castro Mujica, María del Carmen
author_facet Barletta Carrillo, Claudia Fiorella
Poterico Rojas, Julio Antonio
Barrionuevo Cornejo, Carlos
Casavilca Zambrano, Sandro
Pinedo Cárdenas, Alcides
Quispe Santibañez, Isela
Castro Mujica, María del Carmen
author_sort Barletta Carrillo, Claudia Fiorella
title Familial medullary thyroid carcinoma: case report and literature review
title_short Familial medullary thyroid carcinoma: case report and literature review
title_full Familial medullary thyroid carcinoma: case report and literature review
title_fullStr Familial medullary thyroid carcinoma: case report and literature review
title_full_unstemmed Familial medullary thyroid carcinoma: case report and literature review
title_sort familial medullary thyroid carcinoma: case report and literature review
description Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern. We present the first report of a Peruvian family with FMTC and a germinal pathogenic variant on RET proto-oncogene, identified with Sanger sequencing. This manuscript also shows a literature review of this hereditary cancer syndrome, where we highlight the relevance of primary prevention and the potential effect on public health in healthy carriers of germinal pathogenic variants.
publisher Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2018
url https://revistas.unc.edu.ar/index.php/med/article/view/20947
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