Melanoma: Genetic and Biomarker Testing
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This section covers the following:
What is melanoma testing?
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
tests may be used to select treatments, and help patients avoid side effects from treatments that will not work for them. 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 Testing section for more information.
testing for treatment selection
Experts recommend testing people with lymph node-positive or advanced melanoma for the following biomarkers:
- Tumor 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 tests that may be used for melanoma:
- Tumor testing can find mutations in genes known as KIT and NRAS.
- testing may help identify people who are eligible for certain clinical trials.
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, uveal melanoma, and/or mesothelioma.
This is not a complete list of all the risk factors for an . People who are concerned that their melanoma may be hereditary should ask for a referral to a genetic counselor.
In-Depth Information from Experts
NCCN Patient Guidelines for Melanoma
The National Comprehensive Cancer Network has patient guidelines to help people diagnosed with melanoma make informed decisions.
AIM at Melanoma Foundation
FORCE partner, AIM at Melanoma Foundation has detailed information to help people understand their diagnosis and treatment options.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 all related. 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 uveal melanoma (in the eye) and cutaneous melanoma (in the skin). People with a BAP1 mutation have a very high risk for melanoma. BAP1 mutations are linked to hereditary melanoma in families. |
CDKN2A (familial atypical multiple mole melanoma syndrome [FAMMM]) |
People with a CDKN2A mutation have a very high risk for melanoma and pancreatic cancer. CDKN2A mutations are linked to hereditary melanoma in families. |
Mutations in CDK4 are rare. People with a CDK4 mutation have a very high risk for melanoma. CDK4 mutations are linked to hereditary melanoma in families. |
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MBD4 (uveal melanoma) |
People with a MBD4 mutation have a high risk for uveal (eye) melanoma. MBD4 mutations are linked to hereditary uveal melanoma in families. |
MITF(E318K) |
People with a specific variant in their MITF gene, called MITF(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 varian in one copy of the gene. |
TERT |
Inherited TERT mutations are very rare. Mutations in this gene have been linked to hereditary melanoma in families. The exact risk 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 very high risk for all types of skin cancer, including melanoma, often at a young age. |
Other Genes that Increase Melanoma Risk |
Notes |
People with a BRCA1 mutation have an increased risk for several types of cancer, including a small increased risk for melanoma. More research is needed to confirm this link. |
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People with a BRCA2 mutation have an increased risk for several types of cancer, including a small increased risk for melanoma. |
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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. |
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PTEN (PTEN hamartoma tumor syndrome) |
People with a PTEN mutation have an increased risk for several types of cancer, including melanoma. The lifetime risk for melanoma with a PTEN mutation is about 6%. |
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. |