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Test Code: NBRAF
Description: The 1799T>A (V600E) point mutation in BRAF, a serine/threonine kinase, is associated with several cancers including melanoma, papillary thyroid cancer, and colorectal carcinoma. The 1799T>A (V600E) mutation causes constitutive kinase activation, leading to increased cellular proliferation. Analysis of BRAF mutations is helpful in multiple clinical settings: 1) to guide the use of anti-EGFR therapies, 2) as a potential drug target in patients with various cancers, and 3) as an adjunct to genetic testing for hereditary non-polyposis colorectal cancer. The assay to detect the BRAF 1799>A (V600E) mutation includes isolation of DNA and gene amplification via an allele-specific polymerase chain reaction to specifically detect the 1799T>A mutation.



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