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What does a BRAF mutation in melanoma mean Medically reviewed by Amanda Caldwell, MSN, APRN-C — By Anna Smith on June 28, 2022The BRAF gene creates a protein that helps control cell growth. Melanoma is a serious form of skin cancer. If a person has a mutation in their BRAF gene, it can cause a melanoma to grow more aggressively.
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Melanoma is a type of skin cancer that occurs when pigment cells called melanocytes grow out of control. Melanoma is less common than other forms of skin cancer.
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However, it is more likely to spread to other areas of the body. When a person has BRAF-positive melanoma, it means their cancer may grow more aggressively.
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Read on to learn more about BRAF mutations in melanomas, including testing, treatment, and outlook. What is a BRAF mutation
Share on PinterestTed Horowitz/Getty ImagesGenes are basic units of inheritance that pass on from parents to their biological children. Genes contain DNA, which contain instructions on how to make certain proteins within the body.
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When there is a mutation in a person’s gene, it can cause it to function incorrectly. The BRAF gene makes a protein that helps regulate cell growth, so a mutation in it can result in uncontrolled cell growth.
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If a person has melanoma, this can lead to the cancer growing at a faster rate. Generally, BRAF mutations develop due to environmental factors or errors during cell division.
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Around 50% of melanomas have an acquired BRAF mutation. A person can also inherit a BRAF mutation from their biological parents.
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And while this is very rare, inherited BRAF mutations can result in serious health issues. Learn more about genes. V600E mutation
The most common form of BRAF mutation is V600E.
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V600E is a mutation that affects one of the building blocks of the protein that BRAF produces. These building blocks are called amino acids.
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In the V600E mutation, an amino acid called glutamic acid replaces valine, another amino acid. This occurs at amino acid number 600 inside the protein. When glutamic acid replaces valine, it allows cells to grow uncontrollably.
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V600E generally causes noncancerous moles. Additional mutations may be necessary for melanomas to form.
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When do doctors recommend BRAF testing
A doctor may recommend BRAF testing for a person with a diagnosis of melanoma or certain other cancers. BRAF testing checks an individual’s cancer cells for a BRAF mutation. This can help healthcare professionals determine the best course of treatment.
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A person may also receive a BRAF test to check if they have a high chance of developing cancer. They may be at risk if they have a family history of the disease. Individuals must remember that having a BRAF mutation does not necessarily mean they will develop cancer.
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However, having a BRAF mutation does mean they have a higher risk of developing certain cancers. Learn more about melanoma. Testing for BRAF
A doctor can perform a BRAF genetic test to check if a person’s melanoma has a BRAF mutation.
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When testing for BRAF mutations, a doctor first takes a biopsy of the tumor. To perform a biopsy, they take a small tissue sample from the tumor by cutting or scraping it. They then send it to a laboratory for examination.
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If a person’s melanoma is positive for BRAF, the doctor can treat it using specialized methods. Treatment
There are several drug treatments for BRAF-positive melanomas, including:
Targeted therapy
Doctors can treat BRAF-positive melanomas with targeted therapy, which is a type of chemotherapy.
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Targeted therapy uses drugs to attack cancer cells that contain specific mutations. The drugs healthcare professionals use to target BRAF mutations are called BRAF inhibitors.
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BRAF inhibitors can be more effective than other cancer treatments for BRAF-positive melanoma. If a person has a BRAF-positive melanoma, they may also receive targeted therapy for MEK proteins. MEK proteins also have a role in cell growth and may work with BRAF mutations to promote cancer growth.
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The American Cancer Society notes that using both BRAF and MEK inhibitors is often more effective than either treatment alone. BRAF inhibitors include:vemurafenib (Zelboraf)dabrafenib (Tafinlar)encorafenib (Braftovi)
These drugs directly attack the BRAF protein.
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This can shrink or stunt the growth of tumors in people who have melanomas that have spread or that doctors cannot completely remove. Healthcare professionals can also use dabrafenib alongside MEK inhibitors to reduce the risk of stage 3 melanoma returning after surgery. MEK inhibitors include:trametinib (Mekinist)cobimetinib (Cotellic)binimetinib (Mektovi)
Although targeted therapy can be effective, a person may become resistant to the drugs within a year.
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Immunotherapy
Immunotherapy is a treatment that helps a person’s immune system locate and attack cancer cells. A study from 2021 compared the results of two treatments: dabrafenib with trametinib and the immunotherapy drugs ipilimumab (Yervoy) and nivolumab (Opdivo). Once the first treatment stopped working, researchers swapped it with the other treatment combination.
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Researchers found that, after 2 years, 72% of people initially receiving treatment with the immunotherapy drugs were still alive. In comparison, 52% of those initially receiving treatment with targeted therapy were still alive after 2 years.
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However, immunotherapy can cause more serious side effects than targeted therapy. Therefore, a person should speak with their doctor to determine the right treatment.
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Learn about the difference between chemotherapy and immunotherapy. Frequently asked questions
The following are common questions and answers relating to BRAF mutations.
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Is BRAF mutation inherited
BRAF mutations usually develop due to environmental factors or issues with cell division. However, people can occasionally inherit them.
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Inherited BRAF mutations are very rare. However, they can cause serious health problems. Which other cancers have BRAF mutations
Other cancers that can have BRAF mutations include:colon cancerrectum cancerovarian cancerthyroid cancernon-small cell lung cancer
Does insurance pay for BRAF testing
Research from 2018 found that coverage for BRAF testing was common in Medicare contractors and private payers.
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However, a person should check with their own insurance provider when arranging to have a BRAF test. Can BRAF testing tell how a person has developed melanoma
There is no scientific information regarding the ability of BRAF testing to determine the cause of melanoma.
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However, a doctor could speculate on the cause of a person’s melanoma by asking them about their family medical history and exposure to potential environmental triggers. Outlook
The outlook for a person with BRAF-positive melanoma may depend on how early doctors diagnose it and whether it has spread.
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Research from 2021 found that the 5-year survival rate for people receiving treatment for BRAF-positive melanoma was 60%. This means that around 6 in 10 individuals are still alive 5 years after their diagnosis.
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However, a person may relapse during this time due to resistance to treatment. Summary
BRAF mutations can lead to melanomas growing more aggressively. People generally acquire BRAF mutations, although others can inherit them in rare cases.
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Doctors recommend a BRAF genetic test when diagnosing certain cancers, including melanoma. A person may also have a test to check their risk for developing certain cancers.
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BRAF genetic tests involve taking a biopsy of a person’s tumor. If the sample is BRAF positive, individuals may receive specialized treatment.
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Treatment for BRAF-positive melanoma involves targeted therapy or immunotherapy. However, some people may become resistant to these treatments over time. If a person has BRAF-positive melanoma, they can speak with their doctor about suitable treatment options.
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Last medically reviewed on June 28, 2022GeneticsCancer / OncologyMelanoma / Skin CancerMedically reviewed by Amanda Caldwell, MSN, APRN-C — By Anna Smith on June 28, 2022
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Related CoverageWhat to know about metastatic melanoma
Metastatic melanoma is an advanced type of skin cancer that has spread to other areas of the body.
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Learn about the symptoms and treatment here.READ MOREWhat are the side effects of chemotherapy? Some common side effects of chemotherapy include infection, bleeding easily, hair loss, and nausea or vomiting.
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Learn how to manage these and others…READ MOREWhat to know about diet and chemotherapyMedically reviewed by Jillian Kubala, MS, RD
People often have to change their diet slightly to cope with chemotherapy side effects. Learn what to eat before, during, and after chemotherapy.READ MORECould antibiotics worsen melanoma?
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Mouse study finds clue in gut microbiome
Antibiotics that deplete the gut microbiome may make melanoma worse, a mouse study found.READ MORETafinlar side effects: What you should know
Tafinlar is a prescription drug used to treat certain types of skin, thyroid, and lung cancer. Learn about the common, mild, and serious side effects…READ MORE
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