Medullary thyroid cancer (MTC) accounts for 5-10% of all thyroid cancers. The majority of medullary thyroid cancers are sporadic, but 25% of cases are inherited as a result of germline mutations in the RET proto-oncogene. In sporadic cases MTC presents as a thyroid nodule discovered at palpation or at thyroid ultrasonography, and is indistinguishable from thyroid nodules of different histology....

Activating germline mutations in the cysteine-rich domain of the RET proto-oncogene are found in >92% of the cases of multiple endocrine neoplasia type 2A (MEN2A) and 85% of familial medullary thyroid carcinoma (FMTC). In virtually 100% of patients with identified mutations one of five cysteines is altered by a missense mutation. In a MEN2A family with 14 affected and 11 unaffected living membe...

INTRODUCTION Fusions of the anaplastic lymphoma receptor tyrosine kinase gene (ALK), ret proto-oncogene (RET), ROS proto-oncogene 1, receptor tyrosine kinase gene (ROS1), B-Raf proto-oncogene, serine/threonine kinase gene (BRAF), and neuregulin 1 gene (NRG1) and intronic MMNG HOS Transforming gene (MET) mutations are druggable oncogene alterations in lung adenocarcinoma that cause expression of...

Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wil...

The susceptibility gene for hereditary Medullary Thyroid Carcinoma (MTC) is the RET proto-oncogene. The aim of this study was to evaluate the prevalence of common germline RET mutations in exons 10 and 11 among Iranian MTC patients. Fifty-seven non-related MTC patients were examined in this study (Females: Males =1.2:1.0, Mean age = 40.0 +/- 11.5 years) and the existence of mutations was assess...

BACKGROUND Single nucleotide polymorphisms (SNPs) may function as modifiers of the RET proto-oncogene, resulting in the expression of medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC). We present 2 non-related Italian-American families (Family 1, n = 107; Family 2, n = 31) with the RET V804M mutation. We have correlated the presence of specific SNPs and the rare RET V804M ...

Mutations in the RET proto-oncogene have been implicated in the pathogenesis of several forms of medullary thyroid cancer (MTC). Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant syndrome caused by germline activating mutations of the RET proto-oncogene and has been categorized into three distinct clinical forms. MEN-2A is associated with MTC, bilateral pheochromocytoma, and ...

BACKGROUND AND OBJECTIVES Certain diseases such as multiple endocrine neoplasia (MEN) 2A, MEN 2B, familial and sporadic medullary thyroid carcinoma (MTC) and renal dysgenesis are related to abnormalities of the RET protein. Our aim was to evaluate the frequency of RET mutation in 10 Saudi families with MEN type 2A and familial MTC. DESIGN AND SETTING A cross-sectional prospective study of pat...

Lung cancer remains the leading cause of death due to cancer. We do not have effective tools for the early detection of lung cancer, so patients are usually diagnosed at an advanced stage. However, novel therapies based on molecular pathways (such as those involving the epidermal growth factor receptor, anaplastic lymphoma kinase, serine/threonine-protein kinase B-Raf, proto-oncogene tyrosine-p...