title: A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation.
abstract: In individuals who carry germline mutations in tumor suppressor genes predisposing them to inherited cancer syndromes, occurrence of somatic mutations in the same genes contributes to tumorigenesis. Germline mutations in the RET proto-oncogene predispose individuals to multiple endocrine neoplasia (MEN) type 2 syndromes. Since these mutations are oncogenic by themselves, somatic mutations in the same gene had been thought unnecessary. Recently, a somatic mutation at codon 918 of RET was reported in medullary thyroid carcinoma (MTC) and C-cell hyperplasia in patients with MEN 2A or familial MTC (FMTC), suggesting its possible contribution to tumorigenesis. We describe here a novel somatic mutation at codon 919 in a patient with FMTC carrying a germline mutation at codon 768 that may also be related to tumor progression.
authors.affiliation: Second Department of Surgery, Kagawa Medical University.
authors.forename: A
authors.initials: A
authors.lastname: Miyauchi
authors.forename: S
authors.initials: S
authors.lastname: Egawa
authors.forename: H
authors.initials: H
authors.lastname: Futami
authors.forename: K
authors.initials: K
authors.lastname: Kuma
authors.forename: T
authors.initials: T
authors.lastname: Obara
authors.forename: K
authors.initials: K
authors.lastname: Yamaguchi
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D018276:Carcinoma, Medullary / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; 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*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D003062:Codon; D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D001224:Aspartic Acid; D018698:Glutamic Acid; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila