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BRAF Testing

BRAF Testing

In different cancer types, in particular those of colorectum and lung, certain subsets of patients have been shown to benefit from anti-EGFR therapies; however a significant proportion show no benefit from these agents.

The BRAF gene encodes a protein that plays a key role in transmitting the original signal from EGFR, via KRAS (another gene which is frequently mutated), downstream to activate important cell functions, in particular proliferation and survival.Acquired mutations of this gene commonly occur in melanoma, colorectal and lung tumours. These mutations are activating, leading to uncontrolled signalling. One mutation, the so-called V600E mutation, predominates. This mutation has been shown to make colorectal cancers resistant to antibody-based anti-EGFR therapies. Patients with this mutation in their tumours are therefore considered unlikely to benefit from anti-EGFR therapies.

This mutation is associated with resistance to the anti-EGFR monoclonal antibody therapeutics cetuximab (Erbitux™) and panitumumab (Vectibix™). The results of mutation tests are reported as positive or negative for the presence of a particular mutation, along with additional information about relative frequency of that mutation in colorectal and lung tumours.

Note that KRAS and BRAF mutations tend to be mutually exclusive and, as the effect of an activating mutation in either gene is similar, it may be beneficial to test for both mutations simultaneously. Source BioScience offers a bundled price for both tests on the same sample.

Source BioScience provide the highest quality reporting and service standards with rapid turnaround times of <3 days, with reflex test (eg NRAS) turned around in an additional 2 days, providing a comprehensive and analytically robust service to the clinician.

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Di Nicolantonio et al. (2008) Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 26:5705

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