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BRAF V600 Mutation

BRAF V600 Mutation

Test Summary

Melanoma, BRAF V600 Mutation, Cobas®

  

Clinical Use

  • Determine eligibility for vemurafenib (Zelboraf®) therapy

Clinical Background

Patients with metastatic melanoma have a poor prognosis, and only about 15% will survive for 5 years after diagnosis.1 Better treatment options are thus needed, and molecular targets have been studied with this in mind. One such molecular target is the mutated BRAF proto-oncogene. BRAF mutations result in activation of signaling pathways that lead to uncontrolled cell growth and oncogenesis. Roughly 50% of malignant melanomas carry one of these activating mutations, the most common being a single amino acid change at position 600 (V600E).2

Vemurafenib, one of a few drugs that have extended the life of patients with metastatic melanoma, targets activated BRAF kinase.3,4 Since vemurafenib is indicated for tumors carrying V600E, it is only approved for patients whose tumor harbors this mutation.5

The Melanoma, BRAF V600 Mutation, Cobas test is a companion diagnostic that was FDA-approved along with vemurafenib treatment. It is intended specifically as an aid in selecting melanoma patients whose tumors carry the BRAF V600E mutation for treatment with vemurafenib.6

Individuals Suitable for Testing

  • Patients with unresectable or metastatic melanoma who are being considered for treatment with vemurafenib

Method

  • DNA extraction from FFPE tissue

  • Real-time polymerase chain reaction amplification in the presence of 2 fluorescent probes that detect BRAF V600E mutation and wild-type BRAF V600

  • Analytical sensitivity: 5% mutant allele in background of wild-type allele

  • Cross-reactivity for nonV600E mutations is 18% for V600D, 68% for V600E2, and 31% for V600K

  • Aliases: B-RAF, vemurafenib (Zelboraf)

Reference Range

BRAF V600 mutation not detected

Interpretive Information

In patients with advanced melanoma, the presence of a BRAF V600E mutation indicates eligibility for treatment with vemurafenib.5 Vemurafenib treatment is not recommended for melanoma patients who have a “not detected” result.5

References

  1. SEER Stat Fact Sheets: Melanoma of the skin. Available at: http://seer.cancer.gov/statfacts/html/melan.html. Accessed March 21, 2012.

  2. Sullivan RJ, Flaherty KT. BRAF in melanoma: Pathogenesis, diagnosis, inhibition, and resistance. J Skin Cancer. 2011; November 17 [Epub ahead of print].

  3. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364:2507-2516.

  4. Sosman JA, Kim KB, Schuchter L, et al. Survival in BRAF-mutant advanced melanoma treated with vemurafenib.
    N Engl J Med. 2012;366:707-714.

  5. Zelboraf® (vemurafenib) [package insert]. South San Francisco, CA: Genentech USA; 08/2011. Available at: http://www.gene.com/gene/products/information/zelboraf/pdf/pi.pdf. Accessed March 21, 2012.

  6. cobas® 4800 BRAF V600 Mutation Test [package insert]. Indianapolis, IN: Roche Diagnostics; 08/2011.
     
 Content reviewed 12/2012
 

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