title: Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
abstract: Germline mutations in the RET proto-oncogene are seen in the majority of patients with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2 (MEN 2). The clinical subtypes of MEN 2 (MEN 2A, MEN 2B and familial MTC) all have medullary thyroid carcinoma, but vary in the involvement of pheochromocytoma, parathyroid adenoma/hyperplasia and developmental abnormalities. A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities). Here we report the identification of a new germline RET mutation (A883F) in two de novo cases of MEN 2B. Identification of this new mutation will contribute to understanding the molecular basis of MEN 2B, and will assist in the clinical management of families harbouring this mutation.
authors.affiliation: University of Cambridge, Department of Pathology, UK.
authors.forename: D P
authors.initials: DP
authors.lastname: Smith
authors.forename: C
authors.initials: C
authors.lastname: Houghton
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
mesh_terms: D000595:Amino Acid Sequence; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D017354:Point Mutation; 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*; D013329:Structure-Activity Relationship
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila