title: Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.
abstract: Germline mutations in the RET proto-oncogene are the cause of multiple endocrine neoplasia type 2 (MEN 2A and 2B) and familial medullary thyroid carcinoma (FMTC). Some cases of sporadic medullary thyroid carcinoma (MTC) have also been reported to have mutations in the RET gene. However, two previous reports have given discrepant results on the frequency of the mutations in RET in sporadic MTCs in Japan. To clarify this problem, we analyzed mutations in RET exon 16 in 72 sporadic MTCs by means of the two methods used in the previous studies, direct sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Mutations in exon 16 were detected in only 2 of 72 cases of sporadic MTC. These results suggest that when a MTC has a mutation in RET exon 16, it is more likely to be a hereditary MTC than a sporadic one in Japan.
authors: Department of Laboratory Medicine, Osaka University Medical School, D2 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. ttakano@labo.med.osaka-u.ac.jp
authors: T
authors: T
authors: Takano
authors: A
authors: A
authors: Miyauchi
authors: H
authors: H
authors: Yoshida
authors: Y
authors: Y
authors: Hasegawa
authors: K
authors: K
authors: Kuma
authors: N
authors: N
authors: Amino
mesh_terms: D000328:Adult; D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics*; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005091:Exons; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; D013964:Thyroid Neoplasms / Q000235:genetics*
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