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

Overview

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.

publication date

  • March 1, 1997

Research

keywords

  • Carcinoma, Medullary
  • DNA Mutational Analysis
  • DNA, Neoplasm
  • Drosophila Proteins
  • Proto-Oncogene Proteins
  • Proto-Oncogenes
  • Receptor Protein-Tyrosine Kinases
  • Thyroid Neoplasms

Identity

Scopus Document Identifier

  • 0031056448

PubMed ID

  • 9068588

Additional Document Info

volume

  • 43

issue

  • 3