BRAIN CANCER
CAT.# FP-016: BRAF GENE BREAK APART PROBE
IVD/RUO
BACKGROUND
BRAF gene is located in the q34 region of chromosome 7 and encodes a protein of 766 amino acid residues. It is a silk/threonine-specific kinase and is an important transduction factor in the RAS /RAF /MEK /ERK signaling pathway which regulates cell proliferation and division. The BRAF gene can be rearranged with multiple genes such as AKAP9, FCHSD1, and BTF3L4, and plays an important role in the development of tumors. KIAA1549 gene is located in the q34 region of chromosome 7, and the KIAA1549/BRAF fusion gene can occur in 60% to 80% of hair cell astrocytoma.
PROBE DESCRIPTION
BRAF gene break apart probe (KIAA1549/BRAF gene fusion probe) uses an orange dye to mark the 5’end of BRAF gene and a green dye to mark the 3’end of BRAF gene. Because BRAF is close to KIAA1549 (2Mbp) and BRAF gene can be rearranged with multiple genes, conventional BRAF break probe and KIAA1549/BRAF gene fusion probe cannot completely distinguish positive and negative samples. This probe uses non-repetitive sequences probe to design BRAF cleavage probe. When BRAF rearrangement is negative, it shows a 2F signal. When BRAF gene is rearranged with other genes, it shows a typical 1R1G1F signal. When BRAF gene is fused with the KIAA1549 gene, it shows specific 1G2F signal.
CLINICAL SIGNIFICANCE
Hairy cell astrocytoma is a cystic astrocytoma with a clear border and slow growth that often occurs in children and young adults. It has been found that 60%-80% of hair cell astrocytoma patients have a KIAA1549/BRAF gene fusion, and the detection of this gene fusion by FISH has a differential significance in low-grade glioma.
References
- Dougherty MJ, et al. (2010) Neuro Oncol 12: 621-30.
- Hutchinson KE, et al. (2013) Clin Cancer Res 19: 6696-702.
