Melanoma, Cutaneous Malignant 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Melanoma, Cutaneous Malignant 2

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 2:

Name: Melanoma, Cutaneous Malignant 2 ⁵⁷ ⁷⁵

Cutaneous Malignant Melanoma 2 ⁷⁵ ²⁹ ⁶

Melanoma, Cutaneous Malignant, 2 ⁵⁷ ¹³

Cmm2 ⁵⁷ ⁷⁵

Melanoma, Cutaneous, Malignant, Susceptibility to, Type 2 ⁴⁰

Melanoma, Cutaneous Malignant, Susceptibility to, 2 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

melanoma, cutaneous malignant 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Eye diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 155601

MedGen ⁴² C1835044

MeSH ⁴⁴ D008545

SNOMED-CT via HPO ⁶⁹ 263681008 2092003 372244006

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Summaries for Melanoma, Cutaneous Malignant 2

OMIM : ⁵⁷ 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). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). (155601)

MalaCards based summary : Melanoma, Cutaneous Malignant 2, is also known as cutaneous malignant melanoma 2. An important gene associated with Melanoma, Cutaneous Malignant 2 is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). Affiliated tissues include skin and eye, and related phenotype is cutaneous melanoma.

UniProtKB/Swiss-Prot : ⁷⁵ Melanoma, cutaneous malignant 2: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

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Related Diseases for Melanoma, Cutaneous Malignant 2

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2	Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3	Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5	Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8	Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

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Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neoplasia:
malignant melanoma

Laboratory Abnormalities:
frequent deletions of chromosome 9 in melanoma

Clinical features from OMIM:

155601

Human phenotypes related to Melanoma, Cutaneous Malignant 2:

³²

#	Description	HPO Frequency	HPO Source Accession
1	cutaneous melanoma ³²		HP:0012056

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Drugs & Therapeutics for Melanoma, Cutaneous Malignant 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Phosphorus 32 in Treating Patients With Glioblastoma Multiforme	Unknown status	NCT00004129	Phase 1

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 2

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Genetic Tests for Melanoma, Cutaneous Malignant 2

Genetic tests related to Melanoma, Cutaneous Malignant 2:

#	Genetic test	Affiliating Genes
1	Cutaneous Malignant Melanoma 2 ²⁹	CDKN2A

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Anatomical Context for Melanoma, Cutaneous Malignant 2

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 2:

⁴¹

Skin, Eye

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Publications for Melanoma, Cutaneous Malignant 2

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Genes for Melanoma, Cutaneous Malignant 2

Genes/enhancers related to Melanoma, Cutaneous Malignant 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	1404.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	8153634 8653684 11319798 (more) 17492760 15146471 7624155 11726555 12019208 20132244 7881419 8570179 8727306 9916806 10874641 12700603 9425228 7670475 10400925 10956390 12549483 22636603 7987387 7666917 8012957 8552158 10869234 11579459 11807902 20340136 9328469 9516223 9603434 9699728 11506491 7559077 8595405 9416844 18178632
1	CDKN2A::GH09J021974	TSS distance: +20.3kb Elite enhancer with elite association with CDKN2A			Curated enhancer-disease association ²³ ( 27569544 )	9916806

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Variations for Melanoma, Cutaneous Malignant 2

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 2:

⁷⁵ (show all 35)

#	Symbol	AA change	Variation ID	SNP ID
1	CDKN2A	p.Arg24Cys	VAR_001413
2	CDKN2A	p.Arg24Pro	VAR_001414	rs104894097
3	CDKN2A	p.Leu32Pro	VAR_001416	rs878853650
4	CDKN2A	p.Gly35Ala	VAR_001418	rs746834149
5	CDKN2A	p.Gly35Glu	VAR_001419	rs746834149
6	CDKN2A	p.Pro48Leu	VAR_001420
7	CDKN2A	p.Gln50Arg	VAR_001423	rs587778189
8	CDKN2A	p.Met53Ile	VAR_001424	rs104894095
9	CDKN2A	p.Val59Gly	VAR_001427	rs104894099
10	CDKN2A	p.Leu62Pro	VAR_001430
11	CDKN2A	p.Ala68Leu	VAR_001432	rs876658534
12	CDKN2A	p.Asn71Lys	VAR_001437
13	CDKN2A	p.Asp84Tyr	VAR_001449	rs11552822
14	CDKN2A	p.Arg87Pro	VAR_001451	rs878853647
15	CDKN2A	p.Gly89Asp	VAR_001453	rs137854599
16	CDKN2A	p.Gly89Ser	VAR_001454	rs137854597
17	CDKN2A	p.Leu97Arg	VAR_001457
18	CDKN2A	p.His98Pro	VAR_001458
19	CDKN2A	p.His98Gln	VAR_001459
20	CDKN2A	p.Arg99Pro	VAR_001460
21	CDKN2A	p.Ala100Leu	VAR_001462
22	CDKN2A	p.Gly101Trp	VAR_001464	rs104894094
23	CDKN2A	p.Arg107Cys	VAR_001466
24	CDKN2A	p.Leu117Met	VAR_001471
25	CDKN2A	p.Ala118Thr	VAR_001472
26	CDKN2A	p.Val126Asp	VAR_001479	rs104894098
27	CDKN2A	p.Arg87Trp	VAR_012317	rs749714198
28	CDKN2A	p.Leu94Gln	VAR_023604
29	CDKN2A	p.Gly122Arg	VAR_035069	rs113798404
30	CDKN2A	p.Gly35Val	VAR_058551
31	CDKN2A	p.Gly67Arg	VAR_058553	rs758389471
32	CDKN2A	p.Asp74Tyr	VAR_058555	rs760640852
33	CDKN2A	p.Thr77Pro	VAR_058556
34	CDKN2A	p.Arg80Pro	VAR_058557
35	CDKN2A	p.Pro81Thr	VAR_058558

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 2:

⁶

(show all 33)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CDKN2A	NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser)	single nucleotide variant	risk factor	rs137854597	GRCh37	Chromosome 9, 21971093: 21971093
2	CDKN2A	NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser)	single nucleotide variant	risk factor	rs137854597	GRCh38	Chromosome 9, 21971094: 21971094
3	CDKN2A	NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter)	single nucleotide variant	Likely pathogenic,risk factor	rs121913388	GRCh37	Chromosome 9, 21971120: 21971120
4	CDKN2A	NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter)	single nucleotide variant	Likely pathogenic,risk factor	rs121913388	GRCh38	Chromosome 9, 21971121: 21971121
5	CDKN2A	NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter)	single nucleotide variant	Likely pathogenic,risk factor	rs121913388	NCBI36	Chromosome 9, 21961120: 21961120
6	CDKN2A	NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs)	deletion	Pathogenic,risk factor	rs587776716	GRCh37	Chromosome 9, 21971114: 21971132
7	CDKN2A	NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs)	deletion	Pathogenic,risk factor	rs587776716	GRCh38	Chromosome 9, 21971115: 21971133
8	CDKN2A	CDKN2A, 6-BP DEL, NT363	deletion	risk factor
9	CDKN2A	NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp)	single nucleotide variant	risk factor	rs104894094	GRCh37	Chromosome 9, 21971057: 21971057
10	CDKN2A	NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp)	single nucleotide variant	risk factor	rs104894094	GRCh38	Chromosome 9, 21971058: 21971058
11	CDKN2A	CDKN2A, 3-BP DUP, ARG105INS	duplication	risk factor
12	CDKN2A	NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile)	single nucleotide variant	Pathogenic	rs104894095	GRCh37	Chromosome 9, 21971199: 21971199
13	CDKN2A	NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile)	single nucleotide variant	Pathogenic	rs104894095	GRCh38	Chromosome 9, 21971200: 21971200
14	CDKN2A	NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro)	single nucleotide variant	Pathogenic/Likely pathogenic,risk factor	rs104894097	GRCh37	Chromosome 9, 21974756: 21974756
15	CDKN2A	NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro)	single nucleotide variant	Pathogenic/Likely pathogenic,risk factor	rs104894097	GRCh38	Chromosome 9, 21974757: 21974757
16	CDKN2A	CDKN2A, -34G-T	single nucleotide variant	risk factor
17	CDKN2A	NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp)	single nucleotide variant	Pathogenic	rs104894098	GRCh37	Chromosome 9, 21970981: 21970981
18	CDKN2A	NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp)	single nucleotide variant	Pathogenic	rs104894098	GRCh38	Chromosome 9, 21970982: 21970982
19	CDKN2A	CDKN2A, IVS2, A-G, -105	single nucleotide variant	risk factor
20	CDKN2A	NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg)	single nucleotide variant	risk factor	rs113798404	GRCh37	Chromosome 9, 21970994: 21970994
21	CDKN2A	NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg)	single nucleotide variant	risk factor	rs113798404	GRCh38	Chromosome 9, 21970995: 21970995
22	CDKN2A	NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly)	single nucleotide variant	Likely pathogenic	rs104894099	GRCh37	Chromosome 9, 21971182: 21971182
23	CDKN2A	NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly)	single nucleotide variant	Likely pathogenic	rs104894099	GRCh38	Chromosome 9, 21971183: 21971183
24	CDKN2A	NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser)	indel	Pathogenic	rs387906410	GRCh37	Chromosome 9, 21971018: 21971019
25	CDKN2A	NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser)	indel	Pathogenic	rs387906410	GRCh38	Chromosome 9, 21971019: 21971020
26	CDKN2A	NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile)	single nucleotide variant	Pathogenic	rs104894109	GRCh37	Chromosome 9, 21971191: 21971191
27	CDKN2A	NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile)	single nucleotide variant	Pathogenic	rs104894109	GRCh38	Chromosome 9, 21971192: 21971192
28	CDKN2A	NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp)	single nucleotide variant	risk factor	rs137854599	GRCh37	Chromosome 9, 21971092: 21971092
29	CDKN2A	NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp)	single nucleotide variant	risk factor	rs137854599	GRCh38	Chromosome 9, 21971093: 21971093
30	CDKN2A	CDKN2A, IVS1BDS, A-G, +1	single nucleotide variant	risk factor
31	CDKN2A	CDKN2A, ARG54HIS	single nucleotide variant	risk factor
32	CDKN2A	NM_001195132.1(CDKN2A)	duplication	Pathogenic/Likely pathogenic,risk factor	rs587780668	GRCh37	Chromosome 9, 21974795: 21974818
33	CDKN2A	NM_001195132.1(CDKN2A)	duplication	Pathogenic/Likely pathogenic,risk factor	rs587780668	GRCh38	Chromosome 9, 21974796: 21974819

Cosmic variations for Melanoma, Cutaneous Malignant 2:

⁹

(show all 14)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM580	NRAS	skin,ear,malignant melanoma,NS	c.181C>A	p.Q61K	1:114713909-114713909	5
2	COSM5049807	NF1	skin,ear,malignant melanoma,NS	c.3097C>T	p.Q1033*	17:31230366-31230366	5
3	COSM5049808	NF1	skin,ear,malignant melanoma,NS	c.3652C>T	p.Q1218*	17:31233157-31233157	5
4	COSM1651647	KIT	skin,eye,malignant melanoma,NS	c.1459G>A	p.G487S	4:54725969-54725969	5
5	COSM110485	GRIN2A	skin,ear,malignant melanoma,NS	c.3217G>A	p.E1073K	16:9764327-9764327	5
6	COSM109660	GRIN2A	skin,ear,malignant melanoma,NS	c.4097C>T	p.P1366L	16:9763447-9763447	5
7	COSM106626	GRIN2A	skin,ear,malignant melanoma,NS	c.1959G>A	p.M653I	16:9829471-9829471	5
8	COSM141892	CNR1	skin,ear,malignant melanoma,NS	c.145C>T	p.P49S	6:88145130-88145130	5
9	COSM141856	CHRM3	skin,ear,malignant melanoma,NS	c.1741T>A	p.F581I	1:239909192-239909192	5
10	COSM471	BRAF	skin,ear,malignant melanoma,NS	c.1790T>G	p.L597R	7:140753345-140753345	5
11	COSM27639	BRAF	skin,ear,malignant melanoma,NS	c.1780G>A	p.D594N	7:140753355-140753355	5
12	COSM476	BRAF	skin,ear,malignant melanoma,NS	c.1799T>A	p.V600E	7:140753336-140753336	5
13	COSM1125	BRAF	skin,ear,malignant melanoma,NS	c.1790T>A	p.L597Q	7:140753345-140753345	5
14	COSM478	BRAF	skin,ear,malignant melanoma,NS	c.1801A>G	p.K601E	7:140753334-140753334	5

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Expression for Melanoma, Cutaneous Malignant 2

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 2.

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Pathways for Melanoma, Cutaneous Malignant 2

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GO Terms for Melanoma, Cutaneous Malignant 2

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