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BRAF fusion

Saturday 4 January 2014

MAPK pathway activation

Fusions

- BRAF-AKAP9 fusion gene (15630448) in thyroid carcinomas

- PAPSS1-BRAF and TRIM24-BRAF fusion gene in melanoma

  • BRAF fusions define a new molecular subset of melanoma, potentially comprising 4% to 8% of "pan-negative" cases.
  • Their presence may explain an unexpected clinical response to MEK inhibitor therapy or assist in selecting patients for MEK-directed therapy.

- KIAA1549-BRAF gene fusion (KIAA1549 andBRAF )

Open references

- BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum. Faulkner C, Ellis HP, Shaw A, Penman C, Palmer A, Wragg C, Greenslade M, Haynes HR, Williams H, Lowis S, White P, Williams M, Capper D, Kurian KM. J Neuropathol Exp Neurol. 2015 Sep;74(9):867-72. doi : 10.1097/NEN.0000000000000226
PMID: 26222501

References

- BRAF Fusions Define a Distinct Molecular Subset of Melanomas with Potential Sensitivity to MEK Inhibition. Hutchinson KE, Lipson D, Stephens PJ, Otto G, Lehmann BD, Lyle PL, Vnencak-Jones CL, Ross JS, Pietenpol JA, Sosman JA, Puzanov I, Miller VA, Pao W. Clin Cancer Res. 2013 Dec 15;19(24):6696-702. doi : 10.1158/1078-0432.CCR-13-1746 PMID: 24345920