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BRAF
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Interpretation 313
Tier 2
BRAF
Variants
BRAF G469A
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

BRAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Approximately 8-15% of colorectal cancer (CRC) harbors BRAF mutations. BRAF G469A mutation in exon 11 is infrequent in CRC and occurs within the kinase domain. The presence of BRAF mutation is significantly associated with right-sided colon cancers and is associated with decreased overall survival. BRAF mutation in a microsatellite unstable colorectal carcinoma indicates that the tumor is probably sporadic and not associated with Lynch syndrome (HNPCC). However, if a BRAF mutation is not detected, the tumor may either be sporadic or Lynch syndrome associated. Detection of BRAF mutations may also be useful in determining patient eligibility for anti-EGFR treatment. Some studies have reported that patients with metastatic CRC (mCRC) that harbor BRAF mutations do not respond to anti-EGFR antibody agents (cetuximab or panitumumab) in the chemotherapy-refractory setting. Results should be interpreted in conjunction with other laboratory and clinical findings.

Citations
  1. Davies H, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417(6892):949-54
  2. Di Nicolantonio F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008;26(35):5705-12
  3. Maestro ML, et al. Role of the BRAF mutations in the microsatellite instability genetic pathway in sporadic colorectal cancer. Ann Surg Oncol 2007;14(3):1229-36
  4. Tol J, et al. BRAF mutation in metastatic colorectal cancer. N Engl J Med 2009;361(1):98-9
  5. Sharma SG, et al. BRAF mutation testing in colorectal cancer. Arch Pathol Lab Med 2010;134(8):1225-8
  6. Prahallad A, et al. Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature 2012;483(7387):100-3
  7. Gravalos C, et al. Integration of panitumumab into the treatment of colorectal cancer. Crit Rev Oncol Hematol 2010;74(1):16-26
  8. Arcila M, et al. Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping. J Mol Diagn 2011;13(1):64-73
Last updated: 2020-07-24 14:53:21 UTC
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