BRAF Mutation Analysis Featured
Test Code
BRAF
Test Synonyms
EGFR inhibitor response
Associations
Colorectal cancer (CRC), hereditary non-polyposis colon cancer (HNPCC), metastatic melanoma, papillary thyroid carcinoma
Methodology
Primer-extension PCR utilizing shifted termination assay (STA) technology followed by capillary electrophoresis (CE)
CPT Codes
Please contact a client service specialist at 800.932.2943
Turnaround Time
7-10 business days
Specimen Requirements
10% neutral buffered formalin fixed paraffin embedded tissue. (Notify MPLN when other fixatives are used.)
NOTE: Include a surgical pathology report with the sample.
NOTE: Include a surgical pathology report with the sample.
Specimen Stability
Stable at 18-25°C indefinitely
Storage & Handling
Ship ambient
Causes for Rejection
Improper specimen labeling; Insufficient sample; Inadequate fixation and/or processing
Reference Range
Positive or Negative for BRAF V600 mutation
Related Content
KRAS, microsatellite instability
Description
Utilized as an independent predictor of colorectal cancer (CRC) patient responsiveness to EGFR inhibitor therapy and to assist with the differentiation of microsatellite instability high (MSI-H) hereditary non-polyposis colon cancer (HNPCC) from sporadic MSI-H CRC.
Between 40 and 60% of melanomas have an activating mutation in the gene encoding BRAF. A Phase III study by Genentech showed vemurafenib significantly improved overall survival in people with previously untreated BRAF V600 mutation-positive metastatic melanoma, compared to chemotherapy.
BRAF mutations are also found in 40-45% of papillary carcinomas, the overwhelming majority comprised of a BRAF kinase activating V600E mutation, for which there is only 10% prevalence in follicular variants of papillary carcinoma. BRAF mutation V600E is an unfavorable prognostic indicator, yet to be validated as a tool for stratifying surgery versus adjuvant therapy. American Thyroid Association recommends molecular testing may be considered for indeterminate cytology.
Between 40 and 60% of melanomas have an activating mutation in the gene encoding BRAF. A Phase III study by Genentech showed vemurafenib significantly improved overall survival in people with previously untreated BRAF V600 mutation-positive metastatic melanoma, compared to chemotherapy.
BRAF mutations are also found in 40-45% of papillary carcinomas, the overwhelming majority comprised of a BRAF kinase activating V600E mutation, for which there is only 10% prevalence in follicular variants of papillary carcinoma. BRAF mutation V600E is an unfavorable prognostic indicator, yet to be validated as a tool for stratifying surgery versus adjuvant therapy. American Thyroid Association recommends molecular testing may be considered for indeterminate cytology.
References
- Tol J et al. (2009). BRAF mutation in metastatic colorectal cancer. NEJM. 361:98-99.
- Di Nicolantonio F et al. (2008). Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 26:5705-5712.
- Loughrey MB et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Familial Cancer. 6:301-310.
- Nikiforovf Y. (2011). Molecular analysis of thyroid tumors. Mod Pathol.Apr;24 Suppl 2:S34-43.
- Nikiforov Y et al.(2009) Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J Clin Endocrinol Metab 94:2092–2098.