Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary cancer syndrome |
| gptkbp:associatedWith |
melanoma
|
| gptkbp:diagnosedBy |
family history
genetic testing |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial melanoma
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
regular skin screening
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
pancreatic cancer
other cancers BAP1 mutation CDK4 mutation CDKN2A mutation MC1R variant |
| gptkbp:symptom |
skin lesions
multiple melanomas |
| gptkbp:treatment |
immunotherapy
targeted therapy surgical excision |
| gptkbp:bfsParent |
gptkb:chromosome_9q21
|
| gptkbp:bfsLayer |
7
|