Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
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منابع مشابه
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
Accurate interpretation of germline mutations of the rearranged during transfection (RET) proto-oncogene is vital for the proper recommendation of preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding the most disputed variant of RET, ATA-A Y791F, we sequenced blood DNA samples from a cohort of 2904 cancer-free elderly individuals (1261 via ...
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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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Context. Medullary thyroid carcinoma is a characteristic tumour occurring in individuals with multiple endocrine neoplasia type 2, who carry germ line mutations in RET. However, most MTC occur in individuals without family history. Objectives. To explore the possibility that susceptibility in these cases results from low penetrance alleles of RET, its co-receptors and ligands. Design. We carrie...
متن کاملRET proto oncogene mutation detection and medullary thyroid carcinoma prevention.
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: Endocrine-Related Cancer
سال: 2014
ISSN: 1351-0088,1479-6821
DOI: 10.1530/erc-14-0491