Braf -Thyroid Cancer

Molecular Test Requisition Specimen Information Billing Information Contact Us CPT Codes Print Page

BRAF -THYROID CANCER

Gene Symbol: BRAF                             
Chromosomal Locus: 7q34
 
Protein: v-raf Murine Sarcoma Viral+ Oncogene Homolog B1        
 
TURNAROUND TIME: 8 days.
 
TESTING METHODOLOGY:  Polymerase chain reaction (PCR) and Shifted Termination Assay for detection of specific mutations.  Mutations detected are V600E (GTGGCG), and V600G (GTG>GGG).
 
SPECIMEN REQUIREMENTS:
  • Collect:  FFPE tumor specimen containing at least 30% tumor mass. 5 to 6 unstained slides with 3=4 um thick tissue.  Must be accompanied by a pathology report and an H&E slide with the tumor regions identified.
  • Transport: Specimen should be shipped at Room Temperature (No Saturday delivery
  • Unacceptable Conditions: Stained slides.          
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
 
Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required. 
 
INTERPRETATIVE DATA:
 
Incidence:  Found in 40% of papillary thyroid tumors. 
 
Disease Characteristics:  The BRAF V600E mutation is present in about 50% of thyroid papillary cancer tumors.  The presence of a BRAF V600E mutation in papillary thyroid tumors (PTC) is associated with poor clinical outcome and recurrence. 
 
Molecular Genetic Mechanism:  The BRAF V600E mutation enhances the proliferation and metastasis of tumor cells.  
 
Related Tests: KRAS
 
Clinical Sensitivity: The tissue sample submitted for testing must contain at least 30% tumor. The assay will detect as low as a 5% population of mutant cells 
 
Analytical Sensitivity: 95%
 
Test Limitations: Mutations not listed in the methodology will not be detected.  This test is only for somatic BRAF changes in cancer tissues. Rare diagnostic errors can occur due to primer / probe site mutations or rare polymorphisms.
 
INDICATIONS FOR USE:  
  • The presence of the BRAF V600E mutation may be a useful marker for risk stratification.
ADDITIONAL REFERENCES: