What does BRAF mutation stand for?
BRAF is a human gene that encodes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.
What is BRAF mutation in melanoma?
A BRAF mutation is a change in a BRAF gene. That change in the gene can lead to an alteration in a protein that regulates cell growth that could allow the melanoma to grow more aggressively. Approximately half of melanomas carry this mutation and are referred to as mutated, or BRAF positive.
What does BRAF code for?
The BRAF gene is located on the long arm of chromosome 7 (7q34) and codes for the serine/threonine protein kinase, B-Raf. B-Raf is a member of the Raf kinase family and is a downstream target of RAS, playing a pivotal role in the MAPK/ERK signaling pathway.
What type of mutation is BRAF V600E?
An activating missense mutation in codon 600 of exon 15 (V600E) of BRAF gene has been identified in multiple neoplasms including melanoma, colorectal carcinoma, papillary thyroid carcinoma, hairy cell leukemia, and Langerhans cell histiocytosis.
What causes BRAF V600E mutation?
Uncontrolled cell growth can lead to cancer. A BRAF mutation can be inherited from your parents or acquired later in life. Mutations that happen later in life are usually caused by the environment or from a mistake that happens in your body during cell division.
What kind of mutation is BRAF V600E?
A specific mutation (change) in the BRAF gene, which makes a protein that is involved in sending signals in cells and in cell growth. This BRAF gene mutation may be found in some types of cancer, including melanoma and colorectal cancer. It may increase the growth and spread of cancer cells.
What is Dabrafenib and Trametinib?
Dabrafenib (Tafinlar®) and trametinib (Mekinst®) are targeted therapy drugs. They are given together to treat melanoma and non-small cell lung cancer.
How is BRAF mutation detected?
For a number of years, Sanger sequencing has been considered to be the most reliable method to detect BRAF mutations in diagnostic laboratories.