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Understanding Melanoma > What is a Biomarker?

What is a Biomarker?

There are several types and subtypes of melanoma.1 Biomarker testing may help your healthcare team determine your specific type of melanoma and the most appropriate treatment plan.2

A biomarker (short for “biological marker”) is a substance in your body that gives your doctors useful information about your cancer.3 Biomarkers can be genes, proteins, or hormones.4

Biomarkers reveal “targets” that help your doctor know which precise treatment might work best for your cancer.  These precise treatments are called targeted therapies.5

To find biomarkers, doctors test blood, urine, or body tissue.6

Biomarker testing may be done with the initial excision. Biomarker testing may be done when your doctor first discovers that the cancer has spread. Or it may be done if the cancer starts growing again after earlier treatments.

Biomarkers can help your doctor6:

  • Advocate for the earliest testing possible
  • Decide which treatment may be more appropriate for you
  • Predict how your cancer may respond to treatment
  • Determine how well your treatment is working
  • See if the cancer is returning

The body responds differently to different treatments depending on the type of mutation.7 There are targeted therapies specific to melanomas with particular mutations, such as the BRAF mutation.7

Knowing whether you have the BRAF mutation can help your doctor find the best treatment for your melanoma. BRAF testing is important when choosing treatment for stage 3 and stage 4 melanoma.11 Ask your healthcare team about testing your melanoma for biomarkers.

The BRAF V600 Mutation

Many cancers are caused by a mutation in a gene. Genes give the instructions for making proteins in the cells of your body. When a gene has been changed, it’s called a mutation.8

One type of genetic mutation is the BRAF V600 mutation.9 The BRAF V600 protein works like a switch to tell cells to grow.9 But the BRAF V600 mutation makes the protein stay “switched on” all the time.10 That causes the cells to grow out of control.9

About 50% (half) of the cases of melanoma have a BRAF mutation.7

About Mutations in Unresectable or Metastatic Melanoma

Melanoma (unresectable or metastatic) is not caused by one behavior or genetic mutation.
It can vary due to changes in the genes that are unique to each person with the disease.
In fact, melanoma is one of the cancers with the highest frequency of mutations.
This video provides additional details about mutations in melanoma specifically.

Why Mutations Matter

When it comes to melanoma (unresectable or metastatic), knowledge is powerful. A genetic test can help identify if the tumor has a mutation. There are several melanoma mutations that you can be tested for, such as the BRAF mutation, and identifying your type is an important step in determining how you can best fight this disease. This video provides additional details about the importance of knowing a melanoma tumor's mutation status, specifically in advanced melanoma.

Melanoma Patient Voices: Cassie's Story

Melanoma patient Cassie emphasizes the importance of BRAF mutation testing in melanoma and annual skin cancer screenings.


  1. American Society of Clinical Oncology. Melanoma: diagnosis.
  2. Nalejska E, Maczynska E, Lewandowska MA. Prognostic and predictive biomarkers: tools in personalized oncology. Mol Diagn Ther. 2014;18(3):273-284.
  3. American Society of Clinical Oncology. Biomarkers to guide treatment for early-stage breast cancer.
  4. My Cancer. What are biomarkers?
  5. American Society of Clinical Oncology. Understanding targeted therapy.
  6. American Society of Clinical Oncology. Tumor marker tests.
  7. American Cancer Society. Targeted therapy drugs for melanoma skin cancer.
  8. National Cancer Institute. The genetics of cancer. About Cancer.
  9. National Cancer Institute. BRAF (V600E) mutation. NCI Dictionary of Cancer Terms.
  10. National Institutes of Health. BRAF gene. Genetics Home Reference.