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Start Over Author "Thibodeau, S. N." Journal clinical chemistry
5 results on '"Thibodeau, S. N."'

5. Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.

Author

Siegelman M, Mohabeer A, Fahey TJ 3rd, Tomlinson G, Mayambala C, Jafari S, Noll WW, Thibodeau SN, and Dawson DB

Subjects
DNA Primers chemistry, Electrophoresis, Polyacrylamide Gel, Exons genetics, Humans, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Proto-Oncogene Proteins c-ret, Carcinoma, Medullary genetics, DNA Mutational Analysis methods, DNA, Neoplasm analysis, Drosophila Proteins, Proto-Oncogene Proteins genetics, Proto-Oncogenes genetics, Receptor Protein-Tyrosine Kinases genetics, Thyroid Neoplasms genetics
Abstract

Germline mutations in exons 10, 11, and 16 of the RET protooncogene are associated with the heritable cancer syndromes multiple endocrine neoplasia (MEN) type 2A, familial medullary thyroid carcinoma (FMTC), and MEN type 2B. Nonradioactive mutation analysis with nondenaturing Phastgels and the Phast System was performed on DNA amplified by the polymerase chain reaction from exons 10, 11, and 16 of the RET protooncogene from patients with MEN 2A, MEN 2B, or FMTC. The analysis requires approximately 45-90 min for electrophoresis and 35 min for staining. This assay detected 20 of 21 different mutations that represented approximately 90% of all known mutations associated with these lesions. A rare silent polymorphism within exon 10 was also detected. This form of mutation analysis provides simple, rapid, and highly sensitive nonradioactive detection of mutations known to be associated with MEN 2A, FMTC, and MEN 2B.

Published
1997

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