CMM2
MCID: MLN067
MIFTS: 26

Melanoma, Cutaneous Malignant 2 (CMM2)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 2

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 2:

Name: Melanoma, Cutaneous Malignant 2 58 76
Cutaneous Malignant Melanoma 2 76 30 6
Melanoma, Cutaneous Malignant, 2 58 13
Cmm2 58 76
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 2 41
Melanoma, Cutaneous Malignant, Susceptibility to, 2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
melanoma, cutaneous malignant 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Melanoma, Cutaneous Malignant 2

OMIM : 58 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, eye and prostate, and related phenotype is cutaneous melanoma.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Melanoma, Cutaneous Malignant 2

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 2

Human phenotypes related to Melanoma, Cutaneous Malignant 2:

33
# Description HPO Frequency HPO Source Accession
1 cutaneous melanoma 33 HP:0012056

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
malignant melanoma

Laboratory Abnormalities:
frequent deletions of chromosome 9 in melanoma

Clinical features from OMIM:

155601

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

Genetic Tests for Melanoma, Cutaneous Malignant 2

Genetic tests related to Melanoma, Cutaneous Malignant 2:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 2 30 CDKN2A

Anatomical Context for Melanoma, Cutaneous Malignant 2

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

42
Skin, Eye, Prostate

Publications for Melanoma, Cutaneous Malignant 2

Articles related to Melanoma, Cutaneous Malignant 2:

(show all 38)
# Title Authors Year
1
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. ( 22636603 )
2012
2
Novel and recurrent p14 mutations in Italian familial melanoma. ( 20132244 )
2010
3
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. ( 20340136 )
2010
4
CDKN2A mutations and melanoma risk in the Icelandic population. ( 18178632 )
2008
5
New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. ( 17492760 )
2007
6
Familial melanoma, pancreatic cancer and germline CDKN2A mutations. ( 15146471 )
2004
7
Hereditary p16-Leiden mutation in a patient with multiple head and neck tumors. ( 12549483 )
2003
8
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. ( 12700603 )
2003
9
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. ( 11807902 )
2002
10
Germline mutation of ARF in a melanoma kindred. ( 12019208 )
2002
11
Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families. ( 11319798 )
2001
12
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. ( 11506491 )
2001
13
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. ( 11579459 )
2001
14
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. ( 11726555 )
2001
15
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). ( 10956390 )
2000
16
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. ( 10869234 )
2000
17
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. ( 10874641 )
1999
18
A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. ( 10400925 )
1999
19
Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. ( 9916806 )
1999
20
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. ( 9425228 )
1998
21
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. ( 9699728 )
1998
22
CDKN2A mutations in multiple primary melanomas. ( 9516223 )
1998
23
Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations. ( 9603434 )
1998
24
Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. ( 9416844 )
1997
25
Germline mutations of the CDKN2 gene in UK melanoma families. ( 9328469 )
1997
26
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. ( 8552158 )
1996
27
Novel germline p16 mutation in familial malignant melanoma in southern Sweden. ( 8653684 )
1996
28
The current situation with regard to human melanoma and genetic inferences. ( 8727306 )
1996
29
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. ( 7670475 )
1995
30
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. ( 7624155 )
1995
31
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. ( 8570179 )
1995
32
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. ( 8595405 )
1995
33
Mutational analysis of CDKN2 (CDK4I/MTS1) gene in tissues and cell lines of human prostate cancer. ( 7559077 )
1995
34
Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. ( 7666917 )
1995
35
Germline p16 mutations in familial melanoma. ( 7987387 )
1994
36
Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma. ( 8012957 )
1994
37
A cell cycle regulator potentially involved in genesis of many tumor types. ( 8153634 )
1994
38
Genetic heterogeneity in familial malignant melanoma. ( 7881419 )
1994

Variations for Melanoma, Cutaneous Malignant 2

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

76 (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 rs746834149
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 rs105751988
35 CDKN2A p.Pro81Thr VAR_058558

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 2:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_058195.3(CDKN2A): c.187_189dup (p.Arg63_Pro64insArg) duplication risk factor GRCh38 Chromosome 9, 21994143: 21994145
2 CDKN2A NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser) single nucleotide variant risk factor rs137854597 GRCh37 Chromosome 9, 21971093: 21971093
3 CDKN2A NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser) single nucleotide variant risk factor rs137854597 GRCh38 Chromosome 9, 21971094: 21971094
4 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh37 Chromosome 9, 21971120: 21971120
5 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh38 Chromosome 9, 21971121: 21971121
6 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 NCBI36 Chromosome 9, 21961120: 21961120
7 CDKN2A NM_000077.4(CDKN2A): c.226_244delGCCACTCTCACCCGACCCG (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
8 CDKN2A NM_000077.4(CDKN2A): c.226_244delGCCACTCTCACCCGACCCG (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
9 CDKN2A CDKN2A, 6-BP DEL, NT363 deletion risk factor
10 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
11 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
12 CDKN2A NM_058195.3(CDKN2A): c.187_189dup (p.Arg63_Pro64insArg) duplication risk factor GRCh37 Chromosome 9, 21994142: 21994144
13 CDKN2A NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile) single nucleotide variant Pathogenic rs104894095 GRCh37 Chromosome 9, 21971199: 21971199
14 CDKN2A NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile) single nucleotide variant Pathogenic rs104894095 GRCh38 Chromosome 9, 21971200: 21971200
15 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
16 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
17 CDKN2A CDKN2A, -34G-T single nucleotide variant risk factor
18 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
19 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
20 CDKN2A CDKN2A, IVS2, A-G, -105 single nucleotide variant risk factor
21 CDKN2A NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg) single nucleotide variant risk factor rs113798404 GRCh37 Chromosome 9, 21970994: 21970994
22 CDKN2A NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg) single nucleotide variant risk factor rs113798404 GRCh38 Chromosome 9, 21970995: 21970995
23 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
24 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
25 CDKN2A NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser) indel Pathogenic rs387906410 GRCh37 Chromosome 9, 21971018: 21971019
26 CDKN2A NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser) indel Pathogenic rs387906410 GRCh38 Chromosome 9, 21971019: 21971020
27 CDKN2A NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894109 GRCh37 Chromosome 9, 21971191: 21971191
28 CDKN2A NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894109 GRCh38 Chromosome 9, 21971192: 21971192
29 CDKN2A NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp) single nucleotide variant risk factor rs137854599 GRCh37 Chromosome 9, 21971092: 21971092
30 CDKN2A NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp) single nucleotide variant risk factor rs137854599 GRCh38 Chromosome 9, 21971093: 21971093
31 CDKN2A CDKN2A, IVS1BDS, A-G, +1 single nucleotide variant risk factor
32 CDKN2A CDKN2A, ARG54HIS single nucleotide variant risk factor
33 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh37 Chromosome 9, 21974640: 21974640
34 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh38 Chromosome 9, 21974641: 21974641
35 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh37 Chromosome 9, 21970989: 21970989
36 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh38 Chromosome 9, 21970990: 21970990
37 CDKN2A NM_001195132.1(CDKN2A) duplication Pathogenic/Likely pathogenic,risk factor rs587780668 GRCh37 Chromosome 9, 21974795: 21974818
38 CDKN2A NM_001195132.1(CDKN2A) duplication Pathogenic/Likely pathogenic,risk factor rs587780668 GRCh38 Chromosome 9, 21974796: 21974819
39 CDKN2A NM_000077.4(CDKN2A): c.122C> A (p.Pro41Gln) single nucleotide variant Uncertain significance rs373407950 GRCh37 Chromosome 9, 21974705: 21974705
40 CDKN2A NM_000077.4(CDKN2A): c.122C> A (p.Pro41Gln) single nucleotide variant Uncertain significance rs373407950 GRCh38 Chromosome 9, 21974706: 21974706
41 CDKN2A NM_000077.4(CDKN2A): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs373291490 GRCh38 Chromosome 9, 21970994: 21970994
42 CDKN2A NM_000077.4(CDKN2A): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs373291490 GRCh37 Chromosome 9, 21970993: 21970993
43 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
44 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
45 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs587780668 GRCh37 Chromosome 9, 21974795: 21974818
46 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs587780668 GRCh38 Chromosome 9, 21974796: 21974819
47 CDKN2A NM_000077.4(CDKN2A): c.260G> C (p.Arg87Pro) single nucleotide variant Pathogenic rs878853647 GRCh37 Chromosome 9, 21971098: 21971098
48 CDKN2A NM_000077.4(CDKN2A): c.260G> C (p.Arg87Pro) single nucleotide variant Pathogenic rs878853647 GRCh38 Chromosome 9, 21971099: 21971099
49 CDKN2A NM_000077.4(CDKN2A): c.-34G> A single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
50 CDKN2A NM_000077.4(CDKN2A): c.-34G> A single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh38 Chromosome 9, 21974861: 21974861

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 0
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 0
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 0
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 0
5 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 0
6 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 0
7 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 0
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 0
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 0
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 0
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 0
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 0
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 0
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 0

Expression for Melanoma, Cutaneous Malignant 2

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

Pathways for Melanoma, Cutaneous Malignant 2

GO Terms for Melanoma, Cutaneous Malignant 2

Sources for Melanoma, Cutaneous Malignant 2

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