Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochromocytoma. The MEN2A gene has recently been localized by a combination of genetic and physical mapping techniques to a 480-kilobase region in chromosome 10q11.2 (refs 2,3). The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid. This suggested RET as a candidate for the MEN2A gene. We have identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls. Further, 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of the RET extracellular and transmembrane domains.
Human trk oncogenes activated by point mutation, in-frame deletion, and duplication of the tyrosine kinase domain.
Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10
Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185
A point mutation in the extracellular domain of the human CSF-1 receptor (c-fms proto-oncogene product) activates its transforming potential
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2
Physiologic versus neoplastic C-cell hyperplasia of the thyroid: separation of distinct histologic and biologic entities
Multivariate analysis of patients with medullary thyroid carcinoma. Prognostic significance and impact on treatment of clinical and pathologic variables
Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. "Study Group Multiple Endocrine Neoplasia Austria (SMENA)"
Prognostic value of RET proto-oncogene point mutations in malignant and benign, sporadic phaeochromocytomas
Parathyroid glands and the multiple endocrine neoplasia syndromes and familial hypocalciuric hypercalcemia
Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course
Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers
Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma
Familial non-multiple endocrine neoplasia medullary thyroid carcinoma: report of a case confirming a new clinical entity in Japan
Presymptomatic screening for medullary thyroid carcinoma in patients with multiple endocrine neoplasia type 2A
Presymptomatic detection and treatment of Japanese carriers of the multiple endocrine neoplasia type 2A gene
German Association of Endocrine Surgeons practice guideline for the surgical management of malignant thyroid tumors
Autoimmune Polyendocrine Syndromes
This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.