CMM
MCID: MLN066
MIFTS: 65

Melanoma, Cutaneous Malignant 1 (CMM)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 1

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 1:

Name: Melanoma, Cutaneous Malignant 1 58
Familial Melanoma 12 60 15
Melanoma, Cutaneous Malignant, 1 58 13
Cutaneous Malignant Melanoma 1 30 6
Melanoma, Familial 58 54
Familial Atypical Mole-Malignant Melanoma Syndrome; Fammm 58
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1 41
Melanoma, Cutaneous Malignant, Susceptibility to, 1 58
Familial Atypical Mole-Malignant Melanoma Syndrome 58
Dysplastic Nevus Syndrome, Hereditary; Dns 58
Familial Atypical Mole Melanoma Syndrome 74
Dysplastic Nevus Syndrome, Hereditary 58
Melanoma, Cutaneous Malignant; Cmm 58
Melanoma, Cutaneous Malignant 58
Dysplastic Nevus Syndrome 74
Melanoma, Familial; Mlm 58
Melanoma, Malignant 58
Hereditary Melanoma 74
Cutaneous Melanoma 74
B-K Mole Syndrome 58
Fammm 58
Cmm1 58
Cmm 58
Mlm 58
Dns 58

Characteristics:

Orphanet epidemiological data:

60
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
melanoma, cutaneous malignant 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Melanoma, Cutaneous Malignant 1

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). (155600)

MalaCards based summary : Melanoma, Cutaneous Malignant 1, also known as familial melanoma, is related to malignant conjunctival melanoma and vulvar melanoma. An important gene associated with Melanoma, Cutaneous Malignant 1 is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are Signaling by GPCR and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include skin, eye and testes, and related phenotypes are nevus and melanoma

Related Diseases for Melanoma, Cutaneous Malignant 1

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

Diseases related to Melanoma, Cutaneous Malignant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 malignant conjunctival melanoma 33.1 GNA11 GNAQ HRAS NRAS
2 vulvar melanoma 32.9 NRAS KIT HRAS
3 pancreatic cancer 32.7 CDK4 CDKN2A CTNNB1 HRAS MAP2K1 PIK3CA
4 skin melanoma 32.6 BRAF CDKN2A MITF NRAS
5 acral lentiginous melanoma 32.4 BRAF CDKN2A KIT NRAS
6 malignant spindle cell melanoma 32.4 KIT MITF NRAS
7 melanocytic nevus syndrome, congenital 32.4 HRAS MC1R NRAS STK11
8 melanoma 31.1 BRAF CDK4 CDKN2A MAP2K1 MC1R MITF
9 meningeal melanoma 30.4 MITF CDKN2A
10 adenocarcinoma 30.3 STK11 PTEN PIK3CA MAP2K1 KIT HRAS
11 malignant peripheral nerve sheath tumor 30.3 KIT CDKN2A CDK4
12 malignant skin fibrous histiocytoma 30.3 NRAS KIT HRAS
13 neurofibroma 30.2 MITF KIT CDKN2A
14 mucosal melanoma 30.0 NRAS MITF KIT GNAQ GNA11 BRAF
15 squamous cell carcinoma 30.0 BRAF CDKN2A CTNNB1 HRAS PIK3CA PTEN
16 melanoma, uveal 29.8 NRAS MITF MC1R GNAQ GNA11 CDKN2A
17 melanoma, cutaneous malignant 3 12.6
18 melanoma, cutaneous malignant 5 12.6
19 melanoma, cutaneous malignant 6 12.6
20 melanoma, cutaneous malignant 9 12.6
21 melanoma, cutaneous malignant 10 12.6
22 melanoma, cutaneous malignant 4 12.4
23 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.2
24 mirror movements 1 12.2
25 melanoma, malignant familial intraocular 12.1
26 microvascular complications of diabetes 3 11.5
27 skin/hair/eye pigmentation, variation in, 3 11.4
28 clear cell sarcoma 11.4
29 malignant anus melanoma 11.2
30 malignant choroid melanoma 11.2
31 malignant ciliary body melanoma 11.2
32 malignant iris melanoma 11.2
33 malignant cornea melanoma 11.2
34 retinal melanoma 11.2
35 perrault syndrome 1 11.1
36 down syndrome 11.1
37 tumor predisposition syndrome 11.1
38 bap1 tumor predisposition syndrome 11.1
39 melanoma, cutaneous malignant 2 11.1
40 melanoma, cutaneous malignant 7 11.1
41 melanoma, cutaneous malignant 8 11.1
42 malignant eyelid melanoma 11.1
43 rectum malignant melanoma 11.1
44 malignant breast melanoma 11.1
45 gallbladder melanoma 11.1
46 digestive system melanoma 11.1
47 primary melanoma of the central nervous system 11.1
48 phakomatosis cesioflammea 10.6 GNAQ GNA11
49 giant congenital nevus 10.6 NRAS HRAS
50 gallbladder adenoma 10.6 CDKN2A CTNNB1 HRAS

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 1:



Diseases related to Melanoma, Cutaneous Malignant 1

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 1

Human phenotypes related to Melanoma, Cutaneous Malignant 1:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003764
2 melanoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002861
3 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
4 abnormality of the lymphatic system 60 33 frequent (33%) Frequent (79-30%) HP:0100763
5 abnormality of the hair 60 33 frequent (33%) Frequent (79-30%) HP:0001595
6 freckling 60 33 frequent (33%) Frequent (79-30%) HP:0001480
7 retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000488
8 abnormality of extrapyramidal motor function 60 33 occasional (7.5%) Occasional (29-5%) HP:0002071
9 neoplasm of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0002894
10 neoplasm of the breast 60 33 occasional (7.5%) Occasional (29-5%) HP:0100013
11 neoplasm of the stomach 60 33 occasional (7.5%) Occasional (29-5%) HP:0006753
12 abnormality of the eye 33 HP:0000478
13 cutaneous melanoma 33 HP:0012056
14 numerous nevi 33 HP:0001054
15 uveal melanoma 33 HP:0007716
16 atypical nevus 33 HP:0001062
17 atypical nevi in non-sun exposed areas 33 HP:0001074

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
numerous nevi
atypical nevi (>5mm with irregular edge and pigmentation)
atypical nevi often present in non-sun exposed areas

Neoplasia:
malignant melanoma

Head And Neck Eyes:
intraocular melanoma

Clinical features from OMIM:

155600

GenomeRNAi Phenotypes related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

27 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.71 BRAF PIK3CA HRAS
2 Decreased viability GR00107-A-1 10.71 MAP2K1
3 Decreased viability GR00221-A-1 10.71 CDKN2A PIK3CA POT1 TERF2IP HRAS NRAS
4 Decreased viability GR00221-A-2 10.71 PIK3CA TERF2IP HRAS
5 Decreased viability GR00221-A-3 10.71 CDKN2A POT1 HRAS MAP2K1 NRAS
6 Decreased viability GR00221-A-4 10.71 BRAF CDKN2A PIK3CA POT1 TERF2IP
7 Decreased viability GR00301-A 10.71 BRAF KIT
8 Decreased viability GR00342-S-1 10.71 MAP2K1
9 Decreased viability GR00342-S-2 10.71 MAP2K1
10 Decreased viability GR00342-S-3 10.71 MAP2K1
11 Decreased viability GR00381-A-1 10.71 BRAF
12 Decreased viability GR00402-S-2 10.71 BRAF CDKN2A PIK3CA POT1 TERF2IP HRAS
13 Decreased substrate adherent cell growth GR00193-A-1 9.86 KIT
14 Decreased substrate adherent cell growth GR00193-A-2 9.86 CDK4 KIT
15 Decreased substrate adherent cell growth GR00193-A-3 9.86 BRAF CDK4
16 Decreased substrate adherent cell growth GR00193-A-4 9.86 BRAF CDK4 KIT
17 Decreased cell migration GR00055-A-1 9.8 BRAF CDK4 CTNNB1 HRAS PIK3CA
18 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.8 CDK4 CTNNB1 HRAS NRAS PTEN STK11
19 Decreased viability in esophageal squamous lineage GR00235-A 9.65 BRAF CDKN2A CTNNB1 HRAS KIT MC1R
20 Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection GR00234-A-2 9.54 BRAF CDK4 STK11
21 Increased cell migration GR00055-A-3 8.92 BRAF CTNNB1 HRAS PIK3CA

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 1:

47 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
2 behavior/neurological MP:0005386 10.48 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
3 cellular MP:0005384 10.47 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
4 integument MP:0010771 10.45 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
5 cardiovascular system MP:0005385 10.44 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
6 endocrine/exocrine gland MP:0005379 10.44 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
7 homeostasis/metabolism MP:0005376 10.44 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
8 mortality/aging MP:0010768 10.41 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
9 immune system MP:0005387 10.4 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
10 embryo MP:0005380 10.38 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
11 craniofacial MP:0005382 10.36 BRAF CTNNB1 GNA11 GNAQ HRAS KIT
12 hematopoietic system MP:0005397 10.35 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
13 digestive/alimentary MP:0005381 10.31 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
14 nervous system MP:0003631 10.27 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
15 neoplasm MP:0002006 10.26 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
16 liver/biliary system MP:0005370 10.22 BRAF CDK4 CDKN2A CTNNB1 GNA11 KIT
17 hearing/vestibular/ear MP:0005377 10.19 BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
18 limbs/digits/tail MP:0005371 10.19 BRAF CTNNB1 GNA11 GNAQ KIT MC1R
19 muscle MP:0005369 10.19 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
20 normal MP:0002873 10.18 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
21 no phenotypic analysis MP:0003012 10.17 CDKN2A CTNNB1 HRAS KIT MC1R MITF
22 pigmentation MP:0001186 10.15 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
23 reproductive system MP:0005389 10 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
24 renal/urinary system MP:0005367 9.97 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
25 respiratory system MP:0005388 9.81 BRAF CDKN2A CTNNB1 GNA11 GNAQ HRAS
26 skeleton MP:0005390 9.73 BRAF CDKN2A CTNNB1 GNA11 GNAQ HRAS
27 vision/eye MP:0005391 9.36 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Familial Melanoma Completed NCT00339404
2 Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma Recruiting NCT00450593
3 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
4 Family Study of Melanoma in Italy Recruiting NCT00339222

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 1

Genetic Tests for Melanoma, Cutaneous Malignant 1

Genetic tests related to Melanoma, Cutaneous Malignant 1:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 1 30

Anatomical Context for Melanoma, Cutaneous Malignant 1

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 1:

42
Skin, Eye, Testes, Breast, Pancreas

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 129)
# Title Authors Year
1
Surveillance for familial melanoma: recommendations from a national centre of expertise. ( 30742720 )
2019
2
Familial Melanoma: Diagnostic and Management Implications. ( 30775140 )
2019
3
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT. ( 30731170 )
2019
4
Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018). ( 30659395 )
2019
5
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. ( 30586141 )
2018
6
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters. ( 29774366 )
2018
7
A novel germline mutation in CDK4 codon 24 associated to familial melanoma. ( 29124743 )
2018
8
Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants. ( 29405243 )
2018
9
Unscheduled Visits of Patients with Familial Melanoma to a Pigmented Lesion Clinic: Evaluation of Patients' Characteristics and Suspicious Lesions. ( 29542807 )
2018
10
Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q. ( 29706638 )
2018
11
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
12
Point mutation in p14<sup>ARF</sup>-specific exon 1I^ of CDKN2A causing familial melanoma and astrocytoma. ( 29278422 )
2017
13
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. ( 28699883 )
2017
14
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges. ( 28754699 )
2017
15
Familial melanoma and multiple primary melanoma. ( 28121081 )
2017
16
Rare germline variants in known melanoma susceptibility genes in familial melanoma. ( 29036293 )
2017
17
Germline TERT promoter mutations are rare in familial melanoma. ( 26433962 )
2016
18
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. ( 27287845 )
2016
19
Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma. ( 27476724 )
2016
20
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. ( 25505254 )
2015
21
Frequency and Characteristics of Familial Melanoma in Spain: The FAM-GEM-1 Study. ( 25874698 )
2015
22
Genetics of familial melanoma: 20 years after CDKN2A. ( 25431349 )
2015
23
Deletion of the MGMT gene in familial melanoma. ( 24801985 )
2014
24
POT1 loss-of-function variants predispose to familial melanoma. ( 24686849 )
2014
25
Familial melanoma by histology and age: joint data from five Nordic countries. ( 24461199 )
2014
26
Acquired melanocytic nevi in childhood and familial melanoma. ( 24196164 )
2014
27
Constitutional promoter methylation and risk of familial melanoma. ( 24762620 )
2014
28
Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation. ( 23546221 )
2013
29
Altered transcriptome signature of phenotypically normal skin fibroblasts heterozygous for CDKN2A in familial melanoma: relevance to early intervention. ( 23371019 )
2013
30
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. ( 23190892 )
2013
31
Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. ( 23825798 )
2013
32
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. ( 23103111 )
2013
33
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. ( 22841127 )
2012
34
p16 immunohistochemistry of multiple primary melanomas as screening to identify Familial Melanoma Syndrome. ( 21671908 )
2012
35
Living with familial melanoma syndrome: coping with the anxiety of three melanomas. ( 22515589 )
2012
36
Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma. ( 21153565 )
2011
37
AXIN2 germline mutations are rare in familial melanoma. ( 21294210 )
2011
38
Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. ( 20539244 )
2010
39
Novel and recurrent p14 mutations in Italian familial melanoma. ( 20132244 )
2010
40
Genetics: familial melanoma. ( 20090079 )
2010
41
Comment on &amp;quot;Clinical genetic testing for familial melanoma in Italy: a cooperative study&amp;quot;. ( 21093666 )
2010
42
Familial melanoma: a meta-analysis and estimates of attributable fraction. ( 20056624 )
2010
43
Selection criteria for genetic assessment of patients with familial melanoma. ( 19751883 )
2009
44
Management of familial melanoma and nonmelanoma skin cancer syndromes. ( 19056043 )
2009
45
Clinical genetic testing for familial melanoma in Italy: a cooperative study. ( 19500876 )
2009
46
Lack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome. ( 19500277 )
2009
47
Absence of germline epimutation of the CDKN2A gene in familial melanoma. ( 18818678 )
2009
48
Familial melanoma. ( 18672145 )
2008
49
Genetic testing in familial melanoma: uptake and implications. ( 18613292 )
2008
50
Clinico-pathological characteristics of familial melanoma in a Mediterranean population. ( 18781137 )
2008

Variations for Melanoma, Cutaneous Malignant 1

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 1:

6 (show top 50) (show all 362)
# Gene Variation Type Significance SNP ID Assembly Location
1 NRAS NM_002524.4(NRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913250 GRCh37 Chromosome 1, 115258748: 115258748
2 NRAS NM_002524.4(NRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913250 GRCh38 Chromosome 1, 114716127: 114716127
3 BRAF NM_004333.5(BRAF): c.1785T> G (p.Phe595Leu) single nucleotide variant Pathogenic rs121913341 GRCh37 Chromosome 7, 140453150: 140453150
4 BRAF NM_004333.5(BRAF): c.1785T> G (p.Phe595Leu) single nucleotide variant Pathogenic rs121913341 GRCh38 Chromosome 7, 140753350: 140753350
5 BRAF NM_004333.4(BRAF): c.1742A> G (p.Asn581Ser) single nucleotide variant Likely pathogenic rs121913370 GRCh37 Chromosome 7, 140453193: 140453193
6 BRAF NM_004333.4(BRAF): c.1742A> G (p.Asn581Ser) single nucleotide variant Likely pathogenic rs121913370 GRCh38 Chromosome 7, 140753393: 140753393
7 BRAF NM_004333.4(BRAF): c.1405G> A (p.Gly469Arg) single nucleotide variant Likely pathogenic rs121913357 GRCh37 Chromosome 7, 140481403: 140481403
8 BRAF NM_004333.4(BRAF): c.1405G> A (p.Gly469Arg) single nucleotide variant Likely pathogenic rs121913357 GRCh38 Chromosome 7, 140781603: 140781603
9 BRAF NM_004333.5(BRAF): c.1785T> A (p.Phe595Leu) single nucleotide variant Pathogenic rs121913341 GRCh37 Chromosome 7, 140453150: 140453150
10 BRAF NM_004333.5(BRAF): c.1785T> A (p.Phe595Leu) single nucleotide variant Pathogenic rs121913341 GRCh38 Chromosome 7, 140753350: 140753350
11 BRAF NM_004333.5(BRAF): c.1783T> C (p.Phe595Leu) single nucleotide variant Pathogenic/Likely pathogenic rs794729219 GRCh37 Chromosome 7, 140453152: 140453152
12 BRAF NM_004333.5(BRAF): c.1783T> C (p.Phe595Leu) single nucleotide variant Pathogenic/Likely pathogenic rs794729219 GRCh38 Chromosome 7, 140753352: 140753352
13 NRAS NM_002524.4(NRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
14 NRAS NM_002524.4(NRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
15 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
16 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh38 Chromosome 19, 1220488: 1220488
17 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh37 Chromosome 19, 1220415: 1220415
18 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh38 Chromosome 19, 1220416: 1220416
19 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh37 Chromosome 19, 1207057: 1207057
20 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh38 Chromosome 19, 1207058: 1207058
21 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh37 Chromosome 19, 1219351: 1219351
22 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh38 Chromosome 19, 1219352: 1219352
23 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh37 Chromosome 10, 89712015: 89712015
24 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh38 Chromosome 10, 87952258: 87952258
25 PTEN NM_000314.6(PTEN): c.55G> A (p.Asp19Asn) single nucleotide variant Pathogenic rs121909233 GRCh37 Chromosome 10, 89624281: 89624281
26 PTEN NM_000314.6(PTEN): c.55G> A (p.Asp19Asn) single nucleotide variant Pathogenic rs121909233 GRCh38 Chromosome 10, 87864524: 87864524
27 PTEN NM_000314.6(PTEN): c.649G> A (p.Val217Ile) single nucleotide variant Pathogenic rs121909234 GRCh37 Chromosome 10, 89717624: 89717624
28 PTEN NM_000314.6(PTEN): c.649G> A (p.Val217Ile) single nucleotide variant Pathogenic rs121909234 GRCh38 Chromosome 10, 87957867: 87957867
29 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh37 Chromosome 9, 21971120: 21971120
30 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh38 Chromosome 9, 21971121: 21971121
31 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 NCBI36 Chromosome 9, 21961120: 21961120
32 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
33 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
34 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
35 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
36 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
37 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
38 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
39 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh38 Chromosome 4, 54727444: 54727444
40 KIT NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
41 KIT NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh38 Chromosome 4, 54733154: 54733154
42 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
43 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic rs121913506 GRCh38 Chromosome 4, 54733154: 54733154
44 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
45 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh38 Chromosome 4, 54727444: 54727444
46 KIT NM_000222.2(KIT): c.1924A> G (p.Lys642Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913512 GRCh37 Chromosome 4, 55594221: 55594221
47 KIT NM_000222.2(KIT): c.1924A> G (p.Lys642Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913512 GRCh38 Chromosome 4, 54728055: 54728055
48 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
49 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh38 Chromosome 1, 114716124: 114716124
50 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529

Cosmic variations for Melanoma, Cutaneous Malignant 1:

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 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 0
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 0
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 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 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 0
11 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 0
12 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 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

Copy number variations for Melanoma, Cutaneous Malignant 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15007 1 111800000 116100000 Amplification NRAS Cutaneous malignant melanoma
2 30467 1 243700000 249250621 Copy number AKT3 Cutaneous malignant melanoma
3 47154 10 89613174 89718512 Loss PTEN Cutaneous malignant melanoma
4 226597 7 59900000 159138663 Amplification BRAF Cutaneous malignant melanoma

Expression for Melanoma, Cutaneous Malignant 1

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 1.

Pathways for Melanoma, Cutaneous Malignant 1

Pathways related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.29 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
2
Show member pathways
13.97 BRAF CDKN2A GNA11 GNAQ HRAS KIT
3
Show member pathways
13.97 BRAF CDK4 CDKN2A CTNNB1 GNA11 HRAS
4
Show member pathways
13.6 BRAF CDK4 CTNNB1 HRAS KIT MAP2K1
5
Show member pathways
13.51 BRAF CTNNB1 GNA11 HRAS MAP2K1 NRAS
6
Show member pathways
13.32 BRAF GNA11 GNAQ HRAS MAP2K1 NRAS
7
Show member pathways
13.2 BRAF CDKN2A CTNNB1 GNA11 HRAS MAP2K1
8
Show member pathways
13.18 BRAF GNA11 HRAS KIT MAP2K1 NRAS
9
Show member pathways
13.15 GNA11 HRAS KIT MAP2K1 NRAS STK11
10
Show member pathways
13.13 GNA11 GNAQ HRAS MAP2K1 NRAS PIK3CA
11
Show member pathways
13.13 BRAF CTNNB1 GNA11 GNAQ HRAS MAP2K1
12
Show member pathways
13.09 CDK4 CTNNB1 HRAS KIT MAP2K1 NRAS
13
Show member pathways
13.08 CTNNB1 GNA11 GNAQ HRAS MAP2K1 NRAS
14
Show member pathways
13.05 BRAF CDK4 CTNNB1 HRAS MAP2K1 NRAS
15
Show member pathways
13.05 BRAF GNA11 GNAQ HRAS KIT MAP2K1
16
Show member pathways
13.03 BRAF CTNNB1 HRAS MAP2K1 NRAS PIK3CA
17
Show member pathways
13.02 BRAF HRAS MAP2K1 NRAS PIK3CA PTEN
18
Show member pathways
13.02 CDK4 CDKN2A CTNNB1 GNA11 GNAQ HRAS
19
Show member pathways
13 BRAF GNA11 HRAS MAP2K1 NRAS PIK3CA
20
Show member pathways
13 BRAF GNA11 HRAS MAP2K1 NRAS PIK3CA
21
Show member pathways
12.93 BRAF CTNNB1 GNA11 HRAS MAP2K1 NRAS
22
Show member pathways
12.91 BRAF GNA11 HRAS MAP2K1 MITF NRAS
23
Show member pathways
12.89 CDKN2A HRAS MAP2K1 NRAS PIK3CA
24
Show member pathways
12.87 BRAF HRAS MAP2K1 PIK3CA PTEN
25 12.86 BRAF HRAS KIT MAP2K1 NRAS
26
Show member pathways
12.86 BRAF GNA11 GNAQ HRAS MAP2K1 NRAS
27
Show member pathways
12.84 BRAF CTNNB1 HRAS MAP2K1 NRAS PIK3CA
28
Show member pathways
12.82 HRAS KIT NRAS PIK3CA PTEN
29
Show member pathways
12.82 BRAF CTNNB1 GNAQ HRAS KIT MAP2K1
30
Show member pathways
12.77 BRAF GNA11 HRAS MAP2K1 NRAS
31
Show member pathways
12.75 CTNNB1 GNA11 GNAQ HRAS MAP2K1 NRAS
32 12.74 BRAF HRAS MAP2K1 NRAS PIK3CA
33
Show member pathways
12.74 BRAF CDK4 CDKN2A HRAS MAP2K1 MITF
34
Show member pathways
12.71 GNA11 GNAQ HRAS MAP2K1 PIK3CA
35
Show member pathways
12.71 BRAF HRAS MAP2K1 NRAS PIK3CA
36
Show member pathways
12.7 HRAS MAP2K1 NRAS PIK3CA PTEN
37
Show member pathways
12.7 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
38 12.65 CDKN2A HRAS MAP2K1 NRAS PIK3CA PTEN
39
Show member pathways
12.64 BRAF HRAS MAP2K1 NRAS PIK3CA
40
Show member pathways
12.61 HRAS MAP2K1 NRAS PIK3CA PTEN
41
Show member pathways
12.61 BRAF HRAS MAP2K1 NRAS PIK3CA PTEN
42
Show member pathways
12.57 CTNNB1 HRAS MAP2K1 NRAS PIK3CA
43
Show member pathways
12.55 BRAF HRAS MAP2K1 MITF NRAS
44
Show member pathways
12.55 CDK4 HRAS MAP2K1 NRAS PIK3CA
45
Show member pathways
12.53 HRAS KIT MAP2K1 NRAS PIK3CA
46
Show member pathways
12.53 BRAF CTNNB1 HRAS MAP2K1 PIK3CA
47
Show member pathways
12.53 BRAF CTNNB1 HRAS KIT MAP2K1 NRAS
48
Show member pathways
12.52 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
49
Show member pathways
12.51 HRAS MAP2K1 NRAS PIK3CA
50
Show member pathways
12.51 BRAF HRAS MAP2K1 NRAS PIK3CA PTEN

GO Terms for Melanoma, Cutaneous Malignant 1

Cellular components related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear telomere cap complex GO:0000783 8.96 POT1 TERF2IP
2 shelterin complex GO:0070187 8.62 POT1 TERF2IP

Biological processes related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.93 CTNNB1 GNA11 MAP2K1 PTEN
2 regulation of gene expression GO:0010468 9.92 CDK4 CTNNB1 MITF PIK3CA
3 activation of protein kinase activity GO:0032147 9.83 MAP2K1 PIK3CA STK11
4 cell cycle arrest GO:0007050 9.83 CDKN2A HRAS MAP2K1 STK11
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.82 BRAF PIK3CA TERF2IP
6 canonical Wnt signaling pathway GO:0060070 9.8 CTNNB1 PTEN STK11
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 BRAF HRAS KIT MAP2K1 PTEN
8 negative regulation of cell proliferation GO:0008285 9.8 CDKN2A CTNNB1 HRAS MAP2K1 PTEN STK11
9 Ras protein signal transduction GO:0007265 9.78 CDKN2A HRAS NRAS
10 T cell receptor signaling pathway GO:0050852 9.78 BRAF HRAS PIK3CA STK11
11 thymus development GO:0048538 9.72 BRAF CTNNB1 MAP2K1
12 pigmentation GO:0043473 9.69 KIT MC1R MITF
13 positive regulation of axonogenesis GO:0050772 9.67 BRAF MAP2K1 STK11
14 positive regulation of phospholipase C activity GO:0010863 9.65 HRAS KIT
15 developmental pigmentation GO:0048066 9.65 GNA11 KIT
16 MAPK cascade GO:0000165 9.65 BRAF HRAS KIT MAP2K1 NRAS
17 anoikis GO:0043276 9.64 PIK3CA STK11
18 somatic stem cell division GO:0048103 9.63 CDKN2A KIT
19 phototransduction, visible light GO:0007603 9.61 GNA11 GNAQ
20 vasculature development GO:0001944 9.61 CTNNB1 PIK3CA STK11
21 entrainment of circadian clock GO:0009649 9.6 GNA11 GNAQ
22 positive regulation of DNA-templated transcription, initiation GO:2000144 9.59 CTNNB1 MITF
23 myeloid progenitor cell differentiation GO:0002318 9.58 BRAF KIT
24 trachea formation GO:0060440 9.57 CTNNB1 MAP2K1
25 regulation of cell proliferation GO:0042127 9.55 BRAF CDK4 CTNNB1 KIT MITF
26 cellular senescence GO:0090398 9.54 CDKN2A HRAS MAP2K1
27 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.46 CTNNB1 MITF
28 positive regulation of gene expression GO:0010628 9.23 BRAF CDKN2A CTNNB1 HRAS KIT MAP2K1
29 regulation of axon regeneration GO:0048679 9.13 BRAF MAP2K1 PTEN
30 signal transduction GO:0007165 10.19 BRAF CDK4 GNA11 GNAQ HRAS KIT
31 positive regulation of cell proliferation GO:0008284 10.06 CDK4 CTNNB1 HRAS KIT PTEN
32 phosphorylation GO:0016310 10.06 BRAF CDK4 KIT MAP2K1 PIK3CA STK11
33 protein phosphorylation GO:0006468 10.03 BRAF CDK4 KIT MAP2K1 PIK3CA STK11

Molecular functions related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.77 BRAF CDK4 KIT MAP2K1 STK11
2 protein serine/threonine kinase activity GO:0004674 9.65 BRAF CDK4 MAP2K1 PIK3CA STK11
3 kinase activity GO:0016301 9.63 BRAF CDK4 KIT MAP2K1 PIK3CA STK11
4 G-rich strand telomeric DNA binding GO:0098505 9.32 POT1 TERF2IP
5 nucleotide binding GO:0000166 9.1 BRAF CDK4 HRAS KIT MAP2K1 NRAS
6 type 2A serotonin receptor binding GO:0031826 8.96 GNA11 GNAQ

Sources for Melanoma, Cutaneous Malignant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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