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Melanoma: Genetic and Biomarker Testing

Biomarker and genetic testing can help people with melanoma make medical decisions. Learn about these tests and how they may affect your options.

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Biomarker and Genetic Testing for People with Melanoma

This section covers the following:

Biomarker testing in people with melanoma

Genetic testing in people with melanoma

Genes linked to increased melanoma risk

What is melanoma testing?

Biomarker tests look at samples of blood, tumor or other tissue for changes or abnormalities caused by cancer. These tests can give doctors clues about the cancer, including:

how fast the cancer is growing
which treatments are most likely to work
whether or not the cancer is responding to treatment or growing
whether or not the cancer has come back after remission

Biomarker tests may be used to select treatments, and help patients avoid side effects from treatments that will not work for them. Biomarker tests used to select a specific treatment are sometimes called companion diagnostic tests. These tests may be done on tumor tissue or (in many cases) on blood. See our Biomarker Testing section for more information.

Biomarker testing for treatment selection

Experts recommend testing people with lymph node-positive or advanced melanoma for the following biomarkers:

Tumor biomarker testing can find a specific mutation in a gene known as BRAF. In melanoma, the most common BRAF mutation is called V600E (may also be V600K/R/M/D/G). People with a BRAF V600 mutation may benefit from the addition of targeted therapies known as BRAF inhibitors.

Additional biomarker tests that may be used for melanoma:

Tumor biomarker testing can find mutations in genes known as KIT and NRAS.
Biomarker testing may help identify people who are eligible for certain clinical trials.

NCCN Patient Guidelines for Melanoma

The National Comprehensive Cancer Network has patient guidelines to help people diagnosed with melanoma make informed decisions.

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AIM at Melanoma Foundation

FORCE partner, AIM at Melanoma Foundation has detailed information to help people understand their diagnosis and treatment options.

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Genetic testing for people with melanoma

People diagnosed with melanoma may have an that caused their cancer. Experts recommend that people who have been diagnosed with melanoma should speak with a genetics expert about genetic testing if they have any of the following:

they have been diagnosed with three or more melanomas
they have a history of unusual-looking moles called Spitz nevi
they have three or more blood relatives diagnosed with melanoma, pancreatic cancer, astrocytoma, , and/or mesothelioma.

This is not a complete list of all the risk factors for an inherited mutation. People who are concerned that their melanoma may be hereditary should ask for a referral to a genetic counselor.

Genes linked to increased melanoma risk

Mutations in the following genes have been linked to hereditary melanoma or increased melanoma risk.

Genes Linked to Hereditary Melanoma	Notes
ACD, POT1, TERF2IP	These genes are part of the same family of genes. Mutations in these genes are rare and have been linked to hereditary melanoma. These mutations may also increase the risks for other cancers.
BAP1	BAP1 increases the risk for several types of cancer including uveal melanoma (in the eye) and cutaneous melanoma (in the skin). Specific features of the melanoma are red flags for BAP1.
CDKN2A (familial atypical multiple mole melanoma syndrome [FAMMM])	People with a CDKN2A mutation have a high lifetime risk for melanoma and pancreatic cancer.
CDK4	Mutations in CDK4 are rare. People with a CDK4 mutation have a high lifetime risk for melanoma.
MBD4	People with a MBD4 mutation have a high risk for uveal (eye) melanoma. MBD4 mutations are linked to hereditary uveal melanoma in families.
MITF p.E318K	People with a specific variant in their MITF gene, called MITF p.E318K, have an increased lifetime risk for melanoma. People with this variant in both copies of their MITF gene have a higher melanoma risk than people with the variant in one copy of the gene.
TERT	Inherited TERT mutations are very rare. The exact melanoma risk for people with a TERT mutation is not known.
XP genes (Xeroderma pigmentosum): DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC	Mutations in the xeroderma pigmentosum (XP) genes are very rare. People with these mutations have a high risk for all types of skin cancer, including melanoma, often at a young age.
Other Genes that Increase Melanoma Risk	Notes
BRCA1	People with a BRCA1 mutation have an increased risk for several types of cancer, including a possible small increased risk for melanoma. More research is needed to confirm this link.
BRCA2	People with a BRCA2 mutation have an increased risk for several types of cancer, including a small increased risk for melanoma.
PALB2	People with a PALB2 mutation have an increased risk for several types of cancer. PALB2 has been linked to a possible increased risk for uveal melanoma. More research is needed to confirm this link.
PTEN (PTEN hamartoma tumor syndrome)	People with a PTEN mutation have an increased risk for several types of cancer, including a small increase in lifetime risk for melanoma.
RB1	People with an RB1 mutation who were previously diagnosed with retinoblastoma have an increased risk for melanoma. There is not enough evidence to show that the risk is higher in people with an RB1 mutation who have not been diagnosed with retinoblastoma.
TP53 (Li-Fraumeni syndrome)	Inherited TP53 mutations increase the risk for many cancers, including melanoma. More research is needed to understand the lifetime risk for melanoma in people with this syndrome.