BRAF V600E Mutation Testing
BRAF is a member of RAF family of serine/threonine kinases and mediates cellular responses to growth signals through the RAS-RAF-MAP kinase pathway.
BRAF mutations are found in approximately 15% of colorectal cancers (CRC), 60-70% of melanomas and approximately 45% of papillary thyroid carcinomas.
The most common mutation of the BRAF gene is a thymidine to adenine change at nucleotide 1799, resulting in an amino acid change from valine to glutamic acid at codon 600 (V600E). This alteration has been shown to activate the kinase activity of the BRAF.
The V600E BRAF mutation has been associated with resistance to the tyrosine kinase inhibitors, Panitumumab (Vectibix) and Cetuximab (Erbitux) in metastatic colorectal cancer.
There are currently early phase compounds being trialled that specifically inhibit BRAF at the V600E site in the hope of treating cancers such as melanoma or CRC. Early results have demonstrated a high degree of specificity with the drug targeting only the tumour cells containing the BRAF V600E mutation.
Specimen Required:
Formalin-fixed paraffin embedded tissue containing at least 20% tumour is required. Either of the following is acceptable.
1 The entire tissue block can be sent which will be sectioned, macro-dissected and processed, then returned following analysis.
2 Eight, seven micron unstained sections on labelled glass slides, together with one H&E stained section.
| Assay Performed: | Twice per week |
| Medicare Rebate: | No |