Melanoma-pancreatic cancer syndrome

Preferred Label : Melanoma-pancreatic cancer syndrome;

CISMeF acronym : FAMMMPC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FAMMMPC; Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome;

Description : Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by Harinck et al., 2012). For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in cyclin-dependent kinase inhibitor 2A (CDKN2A, 600160.0003);

Neoplasia : Pancreatic adenocarcinoma; Pancreatic squamous cell carcinoma; Melanoma; Oropharyngeal squamous cell carcinoma; Sarcoma;

Prefixed ID : #606719;

Details

Origin ID

606719;

UMLS CUI

C1838547;

Automatic exact mappings (from CISMeF team)
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Melanoma-Pancreatic Cancer Syndrome [NCIt concept]
- Melanoma-Pancreatic cancer syndrome [MeSH concept]
- Melanoma-Pancreatic cancer syndrome [MeSH Supplementary Concept]
- Melanoma-pancreatic cancer syndrome [ORDO Disease]
Genes related to phenotype
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Melanoma [HPO term]
- Oropharyngeal squamous cell carcinoma [HPO term]
- Pancreatic adenocarcinoma [HPO term]
- Pancreatic squamous cell carcinoma [HPO term]
- Sarcoma [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
- Melanoma-pancreatic cancer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Melanoma-Pancreatic Cancer Syndrome [NCIt concept]
- Melanoma-Pancreatic cancer syndrome [MeSH Supplementary Concept]
- Melanoma-Pancreatic cancer syndrome [MeSH concept]
- Melanoma-pancreatic cancer syndrome [ORDO Disease]

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