BAP1 Tumor Predisposition Syndrome

Preferred Label : BAP1 Tumor Predisposition Syndrome;

NCIt synonyms : BAP1-TPDS;

NCIt definition : A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi/melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018);

NCI Metathesaurus CUI : CL558268;

Details

Origin ID

C172639;

UMLS CUI

C4707290;

Currated CISMeF NLP mapping
- BAP1-related tumor predisposition syndrome [ORDO Disease]
- BRCA1 associated protein 1 tumor predisposition syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- BRCA1 associated protein 1 tumor predisposition syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- BAP1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BAP1 Gene [NCIt concept]
disease_may_have_associated_disease
- BAP1-Inactivated Melanocytoma [NCIt concept]
- BAP1-Mutant Clear Cell Renal Cell Carcinoma [NCIt concept]
- Cutaneous Melanoma [NCIt concept]
- Malignant Mesothelioma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Uveal Melanoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- BAP1 Gene [NCIt concept]
- BAP1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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