Biomaterial Database

Mutations in the RET proto-oncogene in medullary thyroid carcinoma. 2007

Wolfgang Höppner

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005858	Germany	A country in central Europe, bordering the Baltic Sea and the North Sea, between the Netherlands and Poland, south of Denmark. The capital is Berlin.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090063	Proto-Oncogene Mas	A protein that is encoded by the MAS1 gene. It is a receptor for ANGIOTENSIN 1-7 and acts as an antagonist of ANGIOTENSIN-2 TYPE 1 RECEPTOR.	C-Mas Protein,II-Proto-Oncogene Proteins, Cellular,Mas Protein,Mas1 Protein,Proto-Oncogene Protein Mas,Proto-Oncogene Proteins C-Mas-1,C Mas Protein,C-Mas-1, Proto-Oncogene Proteins,Cellular II-Proto-Oncogene Proteins,II Proto Oncogene Proteins, Cellular,Mas, Proto-Oncogene,Protein Mas, Proto-Oncogene,Protein, C-Mas,Protein, Mas,Protein, Mas1,Proteins, Cellular II-Proto-Oncogene,Proto Oncogene Mas,Proto Oncogene Proteins C Mas 1
D013964	Thyroid Neoplasms	Tumors or cancer of the THYROID GLAND.	Cancer of Thyroid,Thyroid Cancer,Cancer of the Thyroid,Neoplasms, Thyroid,Thyroid Adenoma,Thyroid Carcinoma,Adenoma, Thyroid,Adenomas, Thyroid,Cancer, Thyroid,Cancers, Thyroid,Carcinoma, Thyroid,Carcinomas, Thyroid,Neoplasm, Thyroid,Thyroid Adenomas,Thyroid Cancers,Thyroid Carcinomas,Thyroid Neoplasm
D051096	Proto-Oncogene Proteins c-ret	Receptor protein-tyrosine kinases involved in the signaling of GLIAL CELL-LINE DERIVED NEUROTROPHIC FACTOR ligands. They contain an extracellular cadherin domain and form a receptor complexes with GDNF RECEPTORS. Mutations in ret protein are responsible for HIRSCHSPRUNG DISEASE and MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.	c-ret Protein,ret Proto-Oncogene Proteins,Proto-Oncogene Protein Ret,Proto-Oncogene Protein c-ret,Receptor Tyrosine Kinase RET,Proto Oncogene Protein Ret,Proto Oncogene Protein c ret,Proto Oncogene Proteins c ret,Proto-Oncogene Proteins, ret,Ret, Proto-Oncogene Protein,c-ret, Proto-Oncogene Protein,c-ret, Proto-Oncogene Proteins,ret Proto Oncogene Proteins
D018276	Carcinoma, Medullary	A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)	Carcinomas, Medullary,Medullary Carcinoma,Medullary Carcinomas
D018813	Multiple Endocrine Neoplasia Type 2a	A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.	MEN 2,MEN 2a,Neoplasia, Multiple Endocrine Type 2a,Neoplasms, Multiple Endocrine Type 2a,Sipple Syndrome,MEA 2a,MEA II,MEA IIa,MEN II,MEN IIa,MEN-2A Syndrome,MEN2a,Multiple Endocrine Neoplasia Type 2,Multiple Endocrine Neoplasia, Type IIa,Multiple Endocrine Neoplasms Type 2a,Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma,MEN 2A Syndrome,MEN-2A Syndromes,Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
D018814	Multiple Endocrine Neoplasia Type 2b	Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.	MEN 2b,MEN 3,Neoplasia, Multiple Endocrine Type 2b,Neoplasms, Multiple Endocrine Type 2b,MEA 2b,MEA IIb,MEN III,MEN IIb,MEN2b,Mucosal Neuroma Syndrome,Multiple Endocrine Neoplasia, Type 2b,Multiple Endocrine Neoplasia, Type IIb,Multiple Endocrine Neoplasms Type 2b,Neuromata, Mucosal, With Endocrine Tumors,Wagenmann-Froboese Syndrome,Mucosal Neuroma Syndromes,Neuroma Syndrome, Mucosal,Syndrome, Wagenmann-Froboese,Wagenmann Froboese Syndrome