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

Mark Siegelman, Ajay Mohabeer, Thomas J. Fahey, Gail Tomlinson, Chris Mayambala, Sepideh Jafari, Walter W. Noll, Stephen N. Thibodeau, D. Brian Dawson

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 ~45-90 min for electrophoresis and 35 min for staining. This assay detected 20 of 21 different mutations that represented ~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.

Original languageEnglish (US)
Pages (from-to)453-457
Number of pages5
JournalClinical Chemistry
Volume43
Issue number3
StatePublished - 1997

Fingerprint

Multiple Endocrine Neoplasia
Exons
Screening
Mutation
Polymerase chain reaction
Electrophoresis
Polymorphism
Multiple Endocrine Neoplasia Type 2b
Assays
Multiple Endocrine Neoplasia Type 2a
Germ-Line Mutation
DNA-Directed DNA Polymerase
DNA
Medullary Thyroid cancer
Staining and Labeling
Polymerase Chain Reaction
Familial medullary thyroid carcinoma
Neoplasms

Keywords

  • cancer
  • heritable disorders
  • polymerase chain reaction
  • single-strand conformation polymorphism
  • thyroid disease

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Siegelman, M., Mohabeer, A., Fahey, T. J., Tomlinson, G., Mayambala, C., Jafari, S., ... Dawson, D. B. (1997). Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clinical Chemistry, 43(3), 453-457.

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. / Siegelman, Mark; Mohabeer, Ajay; Fahey, Thomas J.; Tomlinson, Gail; Mayambala, Chris; Jafari, Sepideh; Noll, Walter W.; Thibodeau, Stephen N.; Dawson, D. Brian.

In: Clinical Chemistry, Vol. 43, No. 3, 1997, p. 453-457.

Research output: Contribution to journalArticle

Siegelman, M, Mohabeer, A, Fahey, TJ, Tomlinson, G, Mayambala, C, Jafari, S, Noll, WW, Thibodeau, SN & Dawson, DB 1997, 'Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma', Clinical Chemistry, vol. 43, no. 3, pp. 453-457.
Siegelman, Mark ; Mohabeer, Ajay ; Fahey, Thomas J. ; Tomlinson, Gail ; Mayambala, Chris ; Jafari, Sepideh ; Noll, Walter W. ; Thibodeau, Stephen N. ; Dawson, D. Brian. / Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. In: Clinical Chemistry. 1997 ; Vol. 43, No. 3. pp. 453-457.
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AU - Tomlinson, Gail

AU - Mayambala, Chris

AU - Jafari, Sepideh

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