melanoma, cutaneous malignant, susceptibility to, 8
Findings
No curated finding names melanoma, cutaneous malignant, susceptibility to, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
Definition from the Mondo Disease Ontology (MONDO:0013759), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cutaneous melanomaHPOHP:0012056
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MITFHGNC:7105
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: melanoma, cutaneous malignant, susceptibility to, 8
- Also called
- melanoma, cutaneous malignant, susceptibility to, type 8MITF-related melanoma and renal cell carcinoma predisposition syndrome