Hereditary Melanoma

Preferred Label : Hereditary Melanoma;

NCIt synonyms : Hereditary Cutaneous Melanoma; Familial Cutaneous Melanoma; Familial Melanoma; Melanoma, Familial; Hereditary Melanoma 1 and 2 CDKN2 CDK4;

NCIt related terms : Hereditary Cutaneous (Skin) Melanoma;

NCIt definition : A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-relatives on the same side of the family. It is caused by germline mutations in the CDKN2A or CDK4 genes. It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A families (WHO, 2006).;

Alternative definition : CCPS: A genetic predispostion to developing melanoma due to germline mutation in CDKN2A or CDK4. Subsets of patients are also at risk for pancreatic cancer or astrocytoma.;

Neoplastic status : Malignant;

Détails

Origin ID

C8498;

UMLS CUI

C1512419;

Currated CISMeF NLP mapping
- Familial melanoma [ORDO Disease]
- Melanoma, Cutaneous Malignant [MeSH Descriptor]
- familial melanoma [DO Concept]
- melanoma, cutaneous malignant [MeSH Supplementary Concept]
DO Cross reference
- familial melanoma [DO Concept]
Disease may have findings
- HMB-45-Positive Neoplastic Cells Present [NCIt concept]
- S-100-Positive Neoplastic Cells Present [NCIt concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
- Skin [NCIt concept]
See also inter- (CISMeF)
- Melanoma, cutaneous malignant, susceptibility to, 1 [OMIM Phenotype]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- familial melanoma [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Melanoma Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_normal_cell_origin
- Melanocyte [NCIt concept]
disease_has_normal_tissue_origin
- Skin Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
may_be_associated_disease_of_disease
- Dysplastic Nevus Syndrome [NCIt concept]
related_to_genetic_biomarker
- CDK4 Gene [NCIt concept]
- CDKN2A Gene [NCIt concept]

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