BRAF (9 mutations), (PCR)

Detection of V600 - 601 (9 mutations)  

Main indication:

Melanoma \ NSCLC \ CRC.

Test usage:

BRAF gene mutations occur in a variety of human malignancies including approximately 10% of colorectal cancers (CRC), 45% of papillary thyroid carcinomas (PTC), 50% of melanomas, and virtually all hairy-cell leukemias (HCL).

The most common BRAF mutation is the c.1799T>A (V600E) substitution. In CRC, this mutation has been associated with a limited clinical response to epidermal growth factor receptor (EGFR) targeted therapies (cetuximab or panitumumab). n addition, BRAF V600E mutations are found in sporadic microsatellite instability high (MSI-H) CRC cases, but not in hereditary non-polyposis colorectal cancers (HNPCC). Therefore, determination of BRAF mutation status may help to differentiate sporadic vs. germline MSI-H colorectal cancers. BRAF V600E mutation testing may also aid in the diagnosis of papillary thyroid carcinoma, since benign thyroid neoplasms are not associated with BRAF mutation.