Trait
Cancer of skin pigment cells
Clinical name: Melanoma
The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
Summary
- Also called
- Skin cancer (melanoma), Malignant melanoma
- Body system
- Abnormal tissue mass
Reference genomeGRCh38hg38
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Read the genes linked to Cancer of skin pigment cells, and the rest of your genome, with one test.
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Get my Genome Test57 genes linked to Cancer of skin pigment cells
Changes in these genes cause rare conditions in which Cancer of skin pigment cells is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACDACD shelterin complex subunit and telomerase recruitment factor | Very often (80–99%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Very often (80–99%) | In 1 condition |
| CDK4cyclin dependent kinase 4 | Very often (80–99%) | In 1 condition |
| CDKN2Acyclin dependent kinase inhibitor 2A | Very often (80–99%) | In 4 conditions |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Very often (80–99%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Very often (80–99%) | In 1 condition |
| MGMTO-6-methylguanine-DNA methyltransferase | Very often (80–99%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Very often (80–99%) | In 1 condition |
| POT1protection of telomeres 1 | Very often (80–99%) | In 2 conditions |
| TERF2IPTERF2 interacting protein | Very often (80–99%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Very often (80–99%) | In 2 conditions |
| DDB2damage specific DNA binding protein 2 | Often (30–79%) | In 2 conditions |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Often (30–79%) | In 3 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Often (30–79%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 2 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 2 conditions |
| POLHDNA polymerase eta | Often (30–79%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Often (30–79%) | In 2 conditions |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| AAGABalpha and gamma adaptin binding protein | Sometimes (5–29%) | In 1 condition |
| ATMATM serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BARD1BRCA1 associated RING domain 1 | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 2 conditions |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 2 conditions |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Sometimes (5–29%) | In 2 conditions |
| COL14A1collagen type XIV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CTSCcathepsin C | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Sometimes (5–29%) | In 1 condition |
| NBNnibrin | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 2 conditions |
| PALLDpalladin, cytoskeletal associated protein | Sometimes (5–29%) | In 1 condition |
| PERPp53 apoptosis effector related to PMP22 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sometimes (5–29%) | In 1 condition |
| RABL3RAB, member of RAS oncogene family like 3 | Sometimes (5–29%) | In 2 conditions |
| RAD50RAD50 double strand break repair protein | Sometimes (5–29%) | In 1 condition |
Show 17 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RAD51DRAD51 paralog D | Sometimes (5–29%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| SLC6A17solute carrier family 6 member 17 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| TP53tumor protein p53 | Sometimes (5–29%) | In 3 conditions |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Sometimes (5–29%) | In 1 condition |
| TYMSthymidylate synthetase | Sometimes (5–29%) | In 1 condition |
| TYRtyrosinase | Sometimes (5–29%) | In 1 condition |
| WRNWRN RecQ like helicase | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| MDM2MDM2 proto-oncogene | Rarely (1–4%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Rarely (1–4%) | In 1 condition |
| RNF43ring finger protein 43 | Rarely (1–4%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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