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Related Experiment Videos

BRAF T1796A transversion mutation in various thyroid neoplasms.

M Xing1, V Vasko, G Tallini

  • 1Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. mxing1@jhmi.edu

The Journal of Clinical Endocrinology and Metabolism
|March 6, 2004
PubMed
Summary
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The BRAF T1796A mutation is common in papillary thyroid cancer (PTC) across different regions. This specific mutation is not linked to radiation exposure and is rare in other thyroid tumor types.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Activating mutations in the BRAF gene are prevalent in papillary thyroid cancer (PTC).
  • The frequency of BRAF mutations in other thyroid neoplasms remains under-investigated.

Purpose of the Study:

  • To assess the prevalence of the common BRAF T1796A mutation in various thyroid tumor types.
  • To determine if geographic origin or radiation exposure influences BRAF mutation frequency in PTC.

Main Methods:

  • Direct genomic DNA sequencing was used to analyze thyroid tumor samples.
  • Patient populations included sporadic cases from North America and individuals from Kiev exposed to the Chernobyl accident.

Main Results:

  • The BRAF T1796A mutation occurred in 45% of PTC cases from both North America and Ukraine.

Related Experiment Videos

  • BRAF mutations were found in 20% of anaplastic thyroid cancers, but not in medullary thyroid cancers or benign thyroid conditions.
  • Radiation exposure in Ukrainian patients did not correlate with a higher incidence of BRAF mutation.

    • Conclusions:

    • The high frequency of BRAF mutation is intrinsically linked to PTC, independent of geographic location.
    • BRAF mutation is not a radiation-susceptible mutation.
    • The absence or low prevalence of BRAF mutations in other thyroid neoplasms suggests alternative genetic pathways drive their tumorigenesis.