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?

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. Inherited BRAF mutations are very rare, but they can cause serious health problems.

What does the BRAF gene do?

The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell’s nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions.

What does BRAF mutation positive mean?

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 disease is caused by a BRAF mutation?

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.

Is positive or negative BRAF better?

The change to the gene cause it to make an overactive BRAF protein. This makes cells grow and divide too fast. If you have changes in the BRAF gene, doctors describe your melanoma as BRAF positive. If you don’t have changes, then your melanoma is BRAF negative.

How common is the BRAF mutation?

About 10 percent of colorectal cancer patients have a BRAF gene mutation, according to a report in Biomarkers in Cancer.