title: Three novel mutations in the RET proto-oncogene.
abstract: Medullary thyroid carcinoma (MTC) occurs as a sporadic tumor or in connection with inherited cancer syndromes of multiple endocrine neoplasia type 2 and familial MTC. Missense RET proto-oncogene mutations and small in-frame deletions are found in most of the cases. In a significant amount of sporadic MTC cases somatic mutation at codon 918 (exon 16), or at codons 609, 611, 618, 620 (exon 10), or codons 630, 634 (exon 11) appear. We report here on three new somatic cell missense mutations of the RET proto-oncogene associated with sporadic MTC. In one tumor mutation at codon 922 TCC(Ser)-->TTC(Phe) in exon 16 was found. In another tumor two mutations at codons 639 GCA(Ala)-->GGA(Gly) and 641 GCT(Ala)-->CGT(Arg) in the exon 11 were observed. Allele-specific PCR followed by sequencing demonstrated the presence of both mutations at the same allele.
authors.affiliation: Research Laboratory, Department for General Surgery, Hamburg University Hospital Eppendorf, Martinistrasse 52, 20251 Hamburg, Germany. kalinin@uke.uni-hamburg.de
authors.forename: V N
authors.initials: VN
authors.lastname: Kalinin
authors.forename: F A
authors.initials: FA
authors.lastname: Amosenko
authors.forename: M A
authors.initials: MA
authors.lastname: Shabanov
authors.forename: L N
authors.initials: LN
authors.lastname: Lubchenko
authors.forename: S B
authors.initials: SB
authors.lastname: Hosch
authors.forename: R F
authors.initials: RF
authors.lastname: Garkavtseva
authors.forename: J R
authors.initials: JR
authors.lastname: Izbicki
mesh_terms: D001483:Base Sequence; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D029721:Drosophila Proteins; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; 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