Rastreamento genético do carcinoma medular de tireóide: identificação de mutações no proto-oncogene ret
نویسندگان
چکیده
منابع مشابه
RET Proto-Oncogene
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine...
متن کاملPoint Mutations in RET Proto-Oncogene Exon 10 in Patients with Medullary Thyroid Carcinoma
Background & Aims: Thyroid cancer is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) is an aggressive malignant tumor arising from parafollicular cells of the thyroid. MTC occurs in hereditary (25%, hMTC) or sporadic (75%, sMTC) forms. The hMTC form has an autosomal dominant inheritance. RET proto-oncogene mutations, especially the 10, 11, and 16 exones, are associated w...
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Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%)...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2002
ISSN: 0004-2730
DOI: 10.1590/s0004-27302002000600006