Melanoma, cutaneous malignant, susceptibility to, 1

Preferred Label : Melanoma, cutaneous malignant, susceptibility to, 1;

Symbol : CMM1;

CISMeF acronym : CMM; CMM1; FAMMM;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MLM; Dysplastic nevus syndrome, hereditary; Melanoma, cutaneous malignant; Melanoma, malignant; Familial atypical mole-malignant melanoma syndrome; CMM; FAMMM; DNS; Melanoma, familial; B-k mole syndrome;

Description : One locus for susceptibility to familial cutaneous malignant melanoma (CMM1) has been mapped to chromosome 1p36. Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). - Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma Other familial cutaneous malignant melanoma susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32.3; CMM7 (612263), mapped to chromosome 20q11.22; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p14.1-p12.3; and CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15.33. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, and BAP1 (603089). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003).;

Inheritance : Autosomal dominant;

Neoplasia : Malignant melanoma;

Prefixed ID : %155600;

Details

Origin ID

155600;

UMLS CUI

C1835047;

Automatic exact mappings (from CISMeF team)
- Atypical mole [ORDO Disease]
- Atypical mole syndrome (disorder) [SNOMED CT concept]
- B-K mole syndrome [MedDRA LLT]
- CDKN2A wt Allele [NCIt concept]
- Carubicin [NCIt concept]
- DN Term Type [NCIt concept]
- Dysplastic Nevus Syndrome [NCIt concept]
- Dysplastic nevus syndrome [MedDRA LLT]
- FAMMM [MedDRA LLT]
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
- Hereditary Atypical Mole Melanoma Syndrome [NCIt concept]
- Malignant melanoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- cutaneous malignant melanoma/dysplastic nevus [HGNC gene]
- dysplastic nevus syndrome [MeSH Descriptor]
- dysplastic nevus syndrome [MeSH concept]
- melanoma [DO Concept]
- myristoylmethionine [MeSH Supplementary Concept]
CISMeF manual mappings
- Familial melanoma [ORDO Disease]
Currated CISMeF NLP mapping
- Cutaneous Melanoma [NCIt concept]
- Familial Atypical Mole-Malignant Melanoma Syndrome [MeSH concept]
- MELANOMA MALIGNANT [WHO-ART Preferred Term]
- Malignant melanoma [MedDRA Preferred Term]
- Malignant melanoma [PASCAL descriptor]
- Malignant melanoma (disorder) [SNOMED CT concept]
- Malignant melanoma of skin (disorder) [SNOMED CT concept]
- Melanoma [NCIt concept]
- Melanoma [MedDRA LLT]
- Melanoma [HPO term]
- Melanoma malignant [MedDRA LLT]
- Melanoma of skin [ICD-11 Category]
- Melanoma, Cutaneous Malignant [MeSH Descriptor]
- Skin melanoma [LOINC System]
- familial melanoma [DO Concept]
- malignant melanoma [Radlex concept]
- malignant melanoma [Disease (Nov.)]
- melanoma [MeSH Descriptor]
- melanoma, cutaneous malignant [MeSH concept]
- melanoma, cutaneous malignant [MeSH Supplementary Concept]
Genes related to phenotype
- B-raf protooncogene, serine/threonine kinase [OMIM gene]
- Serine/threonine protein kinase 11 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Atypical nevi in non-sun exposed areas [HPO term]
- Atypical nevus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous melanoma [HPO term]
- Numerous nevi [HPO term]
- Uveal melanoma [HPO term]
ORDO concept(s)
- Atypical mole [ORDO Disease]
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
- Familial melanoma [ORDO Disease]
See also inter- (CISMeF)
- Hereditary Melanoma [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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