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BRAF probe for FISH CE/IVD - Gastrointestinal pathology
The BRAF gene encodes a protein-serine/threonine kinase that participates in the MAPK cascade, which regulates a large variety of cell processes.
Various BRAF translocations were observed in melanocytic nevi, pilocytic astrocytomas, malignant melanoma, prostate and gastric cancer. The AKAP9-BRAF fusion resulting from paracentric inversion of chromosome 7q was found in radiation-induced papillary thyroid carcinomas.
The fusion proteins contain the protein kinase domain but lack the autoinhibitory N-terminal portion of BRAF resulting in constitutive kinase activity.
In addition, in pilocytic astrocytoma the FAM131B-BRAF fusion has been described resulting from interstitial deletion which removes the BRAF N-terminal inhibitory domain.
Moreover, pancreatic acinar cell carcinoma - a rare subtype of pancreatic cancer with poor prognosis - shows a recurrent SND1-BRAF rearrangement. SND1-BRAF-transformed cells were shown to be sensitive to treatment with a MEK inhibitor.
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- Green-Orange 2
- Probe
- ISH 3
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