RET Exon 11 (G691S) Polymorphism Is Significantly More Frequent in Sporadic Medullary Thyroid Carcinoma Than in the General Population
نویسندگان
چکیده
منابع مشابه
Point 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...
متن کاملHypervascularity is more frequent in medullary thyroid carcinoma
This study was designed to retrospectively compare the sonographic features of medullary thyroid carcinoma (MTC) and the features of papillary thyroid carcinoma (PTC).A total of 97 patients with 127 MTCs between January 2000 and January 2016 and 107 consecutive patients with 132 PTCs were included in this study. Two radiologists retrospectively determined the sonographic features and compared t...
متن کاملA unique RET EXON 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid
BACKGROUND Collision tumors of the thyroid are rare, with occasional reports dealing with their genetic analysis. CASE PRESENTATION A 59 year old lady presented with a neck mass, associated with hoarseness of voice of 5 years duration. Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated w...
متن کاملThe modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies
BACKGROUND Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line gain of function mutations in the RET proto-oncogene, and a phenotypic variability among carriers of the same mutation has been reported. We recently observed this phenomenon in a large familial MTC (FMTC) family carrying the RET-S891A mutation. Among genetic modifiers affecting RET-driven MTC, a role has been hypoth...
متن کاملhaplotype frequency of g691s/s904s in the ret proto-onco-gene in patients with medullary thyroid carcinoma.
medullary thyroid carcinoma (mtc) occurs in both sporadic (75%) and hereditary (25%) forms. the missense mutations of the rearranged during transfection (ret) proto-oncogene in mtc development have been well demonstrated. the aim of this study was to investigate frequency of g691s/s904s haplotype in mtc patients and their relatives.in this research 293 participants were studied, including 181 p...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2004
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2003-031898