title: Mutation analysis of the c-mos proto-oncogene and the endothelin-B receptor gene in medullary thyroid carcinoma and phaeochromocytoma.
abstract: The characteristic tumours of MEN 2 are medullary thyroid carcinoma (MTC) and phaeochromocytoma. Somatic RET mutations have been found in only 23-40% of sporadic MTC and 10% of sporadic phaeochromocytomas. Thus, we sought other genes which may play a role in the pathogenesis of these tumours. We carried out direct sequence analysis of human c-mos and human ENRB in a series of sporadic MTC and phaeochromocytomas to determine if somatic mutations in these two genes could account for some of the sporadic MEN 2-related tumours in which no RET mutations are detected. No somatic mutations were found.
authors.affiliation: CRC Human Cancer Genetics Research Group, University of Cambridge, Addenbrooke's Hospital, UK.
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.forename: K A
authors.initials: KA
authors.lastname: Foster
authors.forename: C S
authors.initials: CS
authors.lastname: Healey
authors.forename: C
authors.initials: C
authors.lastname: Houghton
authors.forename: S A
authors.initials: SA
authors.lastname: Gayther
authors.forename: L M
authors.initials: LM
authors.lastname: Mulligan
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D001483:Base Sequence; D018276:Carcinoma, Medullary / Q000235:genetics*; D029721:Drosophila Proteins; D006801:Humans; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D009154:Mutation; D010673:Pheochromocytoma / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila