A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma
| Autor: | Manuel Sobrinho-Simões, Vítor Trovisco, Paula Soares, J.F Magalhaes, Pedro Sá-Couto, Ricardo Soares |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Proto-Oncogene Proteins B-raf
endocrine system diseases DNA Mutational Analysis Gene mutation Biology medicine.disease_cause Polymerase Chain Reaction Pathology and Forensic Medicine Thyroid carcinoma BRAF Gene Mutation medicine Carcinoma Humans Amino Acid Sequence Thyroid Neoplasms skin and connective tissue diseases neoplasms Thyroid cancer Polymorphism Single-Stranded Conformational Mutation Base Sequence Thyroid Middle Aged medicine.disease Carcinoma Papillary digestive system diseases Neoplasm Proteins enzymes and coenzymes (carbohydrates) medicine.anatomical_structure Cancer research Female V600E |
| Zdroj: | Human Pathology. 36:694-697 |
| ISSN: | 0046-8177 |
| DOI: | 10.1016/j.humpath.2005.04.011 |
| Popis: | BRAF gene mutations have been frequently detected in papillary thyroid carcinoma (PTC). Moreover, there is a close association between the type of mutation and the PTC histotype: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) is associated with the follicular variant of PTC. We report the detection of a novel BRAF triplet deletion in a case of PTC displaying a predominantly solid growth pattern. The deletion leads to the replacement of a valine and a lysine by a glutamate in the BRAF activation segment (BRAF(VK600-1E)), thus mimicking partially the 2 BRAF mutations previously described. Our study reinforces the existence of a close relationship between the occurrence of some types of BRAF mutation and some PTC histotypes. The genetic study of more cases of the solid variant of PTC is necessary to find whether there exists a significant association between the occurrence of BRAF(VK600-1E) and such PTC histotype. |
| Databáze: | OpenAIRE |
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