CMM1
MCID: MLN066
MIFTS: 70

Melanoma, Cutaneous Malignant 1 (CMM1)

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 56
Familial Melanoma 12 58 15
Melanoma, Cutaneous Malignant, 1 56 13
Cutaneous Malignant Melanoma 1 29 6
Melanoma, Familial 56 52
Familial Atypical Mole-Malignant Melanoma Syndrome; Fammm 56
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1 39
Melanoma, Cutaneous Malignant, Susceptibility to, 1 56
Familial Atypical Mole-Malignant Melanoma Syndrome 56
Dysplastic Nevus Syndrome, Hereditary; Dns 56
Familial Atypical Mole Melanoma Syndrome 71
Dysplastic Nevus Syndrome, Hereditary 56
Melanoma, Cutaneous Malignant; Cmm 56
Melanoma, Cutaneous Malignant 56
Dysplastic Nevus Syndrome 71
Melanoma, Familial; Mlm 56
Melanoma, Malignant 56
Hereditary Melanoma 71
Cutaneous Melanoma 71
B-K Mole Syndrome 56
Fammm 56
Cmm1 56
Cmm 56
Mlm 56
Dns 56

Characteristics:

Orphanet epidemiological data:

58
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
melanoma, cutaneous malignant 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:6846
OMIM 56 155600
OMIM Phenotypic Series 56 PS155600
NCIt 49 C8498
UMLS via Orphanet 72 C2314896
Orphanet 58 ORPHA618
MedGen 41 C1835047
UMLS 71 C0013403 C0151779 C1512419 more

Summaries for Melanoma, Cutaneous Malignant 1

OMIM : 56 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 skin melanoma and pancreatic cancer. An important gene associated with Melanoma, Cutaneous Malignant 1 is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Peginterferon alfa-2a and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and lymph node, 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 435)
# Related Disease Score Top Affiliating Genes
1 skin melanoma 34.1 PTEN NRAS MC1R HRAS GNAQ GNA11
2 pancreatic cancer 33.9 STK11 PTEN PIK3CA MAP2K2 MAP2K1 HRAS
3 malignant conjunctival melanoma 33.9 NRAS GNAQ GNA11
4 dysplastic nevus syndrome 33.8 STK11 CMM CDKN2A CDK4
5 vulvar melanoma 33.8 NRAS KIT HRAS GNAQ GNA11
6 malignant anus melanoma 33.5 NRAS KIT HRAS GNAQ
7 malignant spindle cell melanoma 33.3 NRAS KIT HRAS GNAQ GNA11
8 melanocytic nevus syndrome, congenital 33.3 STK11 NRAS MC1R HRAS
9 melanoma 32.5 STK11 PTEN PIK3CA NRAS MC1R MAP2K2
10 squamous cell carcinoma 31.8 STK11 PTEN PIK3CA MAP2K1 HRAS CTNNB1
11 nodular malignant melanoma 31.8 NRAS MC1R KIT HRAS GNAQ GNA11
12 pancreatic ductal adenocarcinoma 31.8 PTEN HRAS CTNNB1 CDKN2A
13 melanoma, uveal 31.7 TERF2IP PTEN NRAS MC1R MAP2K1 KIT
14 adenocarcinoma 31.6 STK11 PTEN PIK3CA MAP2K1 KIT HRAS
15 obsolete: squamous cell carcinoma of head and neck 31.6 PTEN PIK3CA MAP2K2 HRAS CTNNB1 BRAF
16 skin carcinoma 31.6 NRAS MC1R HRAS CDKN2A CDK4
17 bladder cancer 31.6 PTEN PIK3CA NRAS MAP2K1 HRAS CDKN2B-AS1
18 mucosal melanoma 31.6 NRAS KIT GNAQ GNA11 CDKN2A BRAF
19 esophageal cancer 31.5 STK11 PTEN PIK3CA HRAS CTNNB1 CDKN2B-AS1
20 neurofibromatosis, type iv, of riccardi 31.5 PTEN KIT HRAS CDKN2B-AS1
21 neurofibroma 31.5 PTEN KIT CDKN2A
22 acral lentiginous melanoma 31.5 PTEN NRAS KIT GNAQ CDKN2A BRAF
23 basal cell carcinoma 31.4 PTEN MC1R KIT CTNNB1 CDKN2B-AS1 CDKN2A
24 cervical cancer 31.3 STK11 PTEN PIK3CA HRAS CTNNB1 CDKN2B-AS1
25 ocular melanoma 31.2 NRAS MC1R KIT GNAQ GNA11 CDKN2A
26 keratosis 31.1 PIK3CA MC1R HRAS CDKN2A
27 li-fraumeni syndrome 31.0 STK11 PTEN HRAS CTNNB1 CDKN2A CDK4
28 malignant skin fibrous histiocytoma 31.0 NRAS KIT HRAS GNAQ GNA11
29 glioblastoma multiforme 30.9 PTEN PIK3CA NRAS MAP2K1 KIT HRAS
30 pancreatic adenocarcinoma 30.9 PTEN PIK3CA MAP2K2 MAP2K1 KIT HRAS
31 neuroblastoma 30.8 PTEN PIK3CA NRAS MAP2K1 KIT HRAS
32 keratosis, seborrheic 30.8 PIK3CA MC1R CDKN2A
33 leukemia, chronic lymphocytic 30.8 PTEN NRAS KIT HRAS CDKN2A CDK4
34 actinic keratosis 30.8 MC1R HRAS CDKN2A
35 testicular germ cell tumor 30.8 STK11 PTEN KIT HRAS
36 melanoma in congenital melanocytic nevus 30.7 NRAS BRAF
37 differentiated thyroid carcinoma 30.7 NRAS HRAS BRAF
38 melanoma, cutaneous malignant 3 12.8
39 melanoma, cutaneous malignant 5 12.8
40 melanoma, cutaneous malignant 6 12.8
41 melanoma, cutaneous malignant 9 12.8
42 melanoma, cutaneous malignant 10 12.8
43 melanoma, cutaneous malignant 4 12.5
44 mirror movements 1 12.3
45 melanoma, malignant familial intraocular 12.2
46 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.1
47 microvascular complications of diabetes 3 12.0
48 diabetic neuropathy 11.7
49 malignant choroid melanoma 11.7
50 malignant ciliary body melanoma 11.7

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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
2 melanoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002861
3 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
4 abnormality of the lymphatic system 58 31 frequent (33%) Frequent (79-30%) HP:0100763
5 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
6 abnormal hair morphology 31 frequent (33%) HP:0001595
7 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
8 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
9 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
10 neoplasm of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0100013
11 neoplasm of the stomach 58 31 occasional (7.5%) Occasional (29-5%) HP:0006753
12 abnormality of the eye 31 HP:0000478
13 abnormality of the hair 58 Frequent (79-30%)
14 cutaneous melanoma 31 HP:0012056
15 numerous nevi 31 HP:0001054
16 atypical nevus 31 HP:0001062
17 atypical nevi in non-sun exposed areas 31 HP:0001074
18 uveal melanoma 31 HP:0007716

Symptoms via clinical synopsis from OMIM:

56
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:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.23 HRAS PIK3CA
2 Decreased viability GR00221-A-1 10.23 CDKN2A HRAS KIT NRAS PIK3CA TERF2IP
3 Decreased viability GR00221-A-2 10.23 HRAS PIK3CA TERF2IP
4 Decreased viability GR00221-A-3 10.23 CDKN2A HRAS NRAS
5 Decreased viability GR00221-A-4 10.23 CDKN2A PIK3CA TERF2IP
6 Decreased viability GR00301-A 10.23 KIT
7 Decreased viability GR00402-S-2 10.23 CDKN2A HRAS KIT NRAS PIK3CA TERF2IP
8 Decreased substrate adherent cell growth GR00193-A-1 10.16 KIT STK11
9 Decreased substrate adherent cell growth GR00193-A-2 10.16 CDK4 KIT
10 Decreased substrate adherent cell growth GR00193-A-3 10.16 BRAF CDK4 MAP2K2 STK11
11 Decreased substrate adherent cell growth GR00193-A-4 10.16 BRAF CDK4 KIT
12 Decreased cell migration GR00055-A-1 9.88 BRAF CDK4 CTNNB1 HRAS MAP2K2 PIK3CA
13 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
14 Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection GR00234-A-2 9.54 BRAF CDK4 STK11
15 Increased cell migration GR00055-A-3 9.26 BRAF CTNNB1 HRAS PIK3CA
16 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDK4 KIT MAP2K2 STK11

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 1:

45 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.5 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
2 growth/size/body region MP:0005378 10.49 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
3 behavior/neurological MP:0005386 10.48 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
4 integument MP:0010771 10.45 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
5 cellular MP:0005384 10.44 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
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 craniofacial MP:0005382 10.4 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
9 mortality/aging MP:0010768 10.39 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
10 immune system MP:0005387 10.37 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
11 digestive/alimentary MP:0005381 10.35 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
12 hematopoietic system MP:0005397 10.32 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
13 embryo MP:0005380 10.3 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
14 neoplasm MP:0002006 10.29 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
15 nervous system MP:0003631 10.23 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
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 muscle MP:0005369 10.19 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
19 normal MP:0002873 10.18 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
20 limbs/digits/tail MP:0005371 10.14 BRAF CTNNB1 GNA11 GNAQ KIT MC1R
21 pigmentation MP:0001186 10.11 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
22 no phenotypic analysis MP:0003012 10.09 CDKN2A CTNNB1 HRAS KIT MC1R NRAS
23 renal/urinary system MP:0005367 9.97 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
24 reproductive system MP:0005389 9.96 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
25 respiratory system MP:0005388 9.81 BRAF CDKN2A CTNNB1 GNA11 GNAQ HRAS
26 skeleton MP:0005390 9.77 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
27 vision/eye MP:0005391 9.36 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 1

Drugs for Melanoma, Cutaneous Malignant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
2
Pembrolizumab Approved Phase 3 1374853-91-4
3
Ipilimumab Approved Phase 2, Phase 3 477202-00-9
4
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
5
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
6
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
7
Peginterferon alfa-2b Approved Phase 2, Phase 3 215647-85-1, 99210-65-8
8
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
9 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
10
BCG vaccine Investigational Phase 2, Phase 3
11
Oblimersen Experimental, Investigational Phase 3 190977-41-4
12 Saponin QA-21V1 Phase 3
13 Liver Extracts Phase 3
14 Antiemetics Phase 3
15 Antineoplastic Agents, Immunological Phase 3
16 Antibodies, Monoclonal Phase 2, Phase 3
17 Antibodies Phase 2, Phase 3
18 Immunoglobulins Phase 2, Phase 3
19 Alkylating Agents Phase 3
20
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
21
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
22
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
23
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
24
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
25
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
26
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
27
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
30
Propranolol Approved, Investigational Phase 1, Phase 2 525-66-6 4946
31
Denosumab Approved Phase 2 615258-40-7
32
Olaparib Approved Phase 2 763113-22-0 23725625
33
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
34
Trabectedin Approved, Investigational Phase 1, Phase 2 114899-77-3 108150
35
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
36
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
37
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39
Polidocanol Approved Phase 2 9002-92-0
40
Trametinib Approved Phase 2 871700-17-3 11707110
41
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
42
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
43
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
Mesna Approved, Investigational Phase 2 3375-50-6 598
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
47
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
48
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
49
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
50
Fenretinide Investigational Phase 2 65646-68-6

Interventional clinical trials:

(show top 50) (show all 219)
# Name Status NCT ID Phase Drugs
1 Randomized, Comparative Phase II/III Study Between Treatment With CSF470 Vaccine (Allogeneic, Irradiated) Plus BCG and MOLGRAMOSTIN (rhGM-CSF) as Adjuvants and Interferon-alfa 2b (IFN-ALPHA), in Stages IIB, IIC and III Post Surgery Cutaneous Melanoma Patients Unknown status NCT01729663 Phase 2, Phase 3 interferon alpha 2b
2 Adjuvant Ganglioside GM2-KLH/QS-21 Vaccination: Post-Operative Adjuvant Ganglioside GM2-KLH/QS-21 (BMS-248479) Vaccination Treatment After Resection of Primary Cutaneous Melanoma Thicker Than 1.5mm (AJCC/UICC Stage II, T3-T4N0M0), a 2-Arm Multicenter Randomized Phase III Trial vs. Observation Unknown status NCT00005052 Phase 3
3 A Phase III, Randomized, Double-blinded Study Comparing the Combination of the BRAF Inhibitor, Dabrafenib and the MEK Inhibitor, Trametinib to Dabrafenib and Placebo as First-line Therapy in Subjects With Unresectable (Stage IIIC) or Metastatic (Stage IV) BRAF V600E/K Mutation-positive Cutaneous Melanoma Completed NCT01584648 Phase 3 dabrafenib;dabrafenib plus trametinib placebo;Trametinib
4 A Phase III, Randomized, Double-Blind, Placebo-Controlled Study of Vemurafenib (RO5185426) Adjuvant Therapy in Patients With Surgically Resected, Cutaneous BRAF-Mutant Melanoma at High Risk for Recurrence Completed NCT01667419 Phase 3 Vemurafenib;Placebo
5 A Phase III, Randomised, Open-label Study Comparing the Combination of the BRAF Inhibitor, Dabrafenib and the MEK Inhibitor, Trametinib to the BRAF Inhibitor Vemurafenib in Subjects With Unresectable (Stage IIIc) or Metastatic (Stage IV) BRAF V600E/K Mutation Positive Cutaneous Melanoma Completed NCT01597908 Phase 3 Dabrafenib;Vemurafenib;Trametinib
6 A Randomized Phase III, Open Label, Multicenter, Two-arm Study Comparing the Efficacy of MEK162 Versus Dacarbazine in Patients With Advanced Unresectable or Metastatic NRAS Mutation-positive Melanoma Completed NCT01763164 Phase 3 MEK162;Dacarbazine
7 Randomized, Multicenter, Open Label Study to Compare the Efficacy and Tolerability of Pegylated Interferon-alpha-2 (PEG-IFN) to 'Low-dose' Interferon-alpha-2a in Patients With Malignant Melanoma in Stages IIA (T3a) - IIIB (AJCC 2002) Completed NCT00204529 Phase 3 pegylated interferon-alpha-2a;interferon-alpha-2a
8 A Phase III Randomized, Open-label Study Comparing GSK1120212 to Chemotherapy in Subjects With Advanced or Metastatic BRAF V600E/K Mutation-positive Melanoma Completed NCT01245062 Phase 3 GSK1120212;Chemotherapy
9 Randomized, Multicenter Phase III Trial Comparing Adjuvant Treatment With PegIntron Over 36 Months Versus Reference Treatment With IntronA Over 18 Months in Cutaneous Melanoma Patients AJCC Stage II (>=1.5 mm Clinically Node Negative) Completed NCT00221702 Phase 3 PegIntron;intron A
10 A Random-Assignment Study of Hepatic Arterial Infusion of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) (Delcath System) Versus Best Alternative Care for Ocular and Cutaneous Melanoma Metastatic to the Liver Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
11 A Prospective Randomized Phase III Clinical Trial Assessing the Role of Post-Operative Radiotherapy Plus Adjuvant Interferon Alpha-2b in Patients With Cervical, Axillary, and Inguinal Nodal Metastasis From Cutaneous Melanoma Completed NCT00003444 Phase 3
12 Nordic Randomized Phase III Trial of Two Different Durations of Adjuvant Therapy With Intermediate-dose Interferon Alfa-2b in Patients With High-risk Melanoma Completed NCT01259934 Phase 3 Interferon-alpha2b - 1 year;Interferon-alpha2b - 2 years
13 An Open-Label, Multicenter, Phase III Trial of ABI-007 vs Dacarbazine in Previously Untreated Patients With Metastatic Malignant Melanoma Completed NCT00864253 Phase 3 ABI-007;Dacarbazine
14 A Multicenter, Randomized, Double-blind Study of Dacarbazine With or Without Genasense in Chemotherapy-naive Subjects With Advanced Melanoma and Low LDH (The AGENDA Trial) Completed NCT00518895 Phase 3 dacarbazine plus Genasense;dacarbazine plus placebo
15 A Multicenter Trial of Adjuvant Interferon Alfa-2b for Melanoma Patients With Early Lymph Node Metastasis Detected by Lymphatic Mapping and Sentinel Lymph Node Biopsy Completed NCT00004196 Phase 3 Observation
16 Melanoma Margins Trial-II - A Phase III, Multi-centre Randomised Controlled Trial Investigating 1cm v 2cm Wide Surgical Excision Margins for AJCC Stage II Primary Cutaneous Melanoma (ANZMTG 02.18 MelMarT-II) Recruiting NCT03860883 Phase 3
17 Adjuvant Pegylated-Interferon-alpha2b (SylatronTM) for 2 Years Versus Observation in Patients With an Ulcerated Primary Cutaneous Melanoma With T(2-4)bN0M0: a Randomized Phase III Trial of the EORTC Melanoma Group. Active, not recruiting NCT01502696 Phase 3
18 A Phase III, Multi-centre, Multi-national Randomised Control Trial Investigating 1cm v 2cm Wide Excision Margins for Primary Cutaneous Melanoma Active, not recruiting NCT02385214 Phase 3
19 A 2-part Phase III Randomized, Open Label, Multicenter Study of LGX818 Plus MEK162 Versus Vemurafenib and LGX818 Monotherapy in Patients With Unresectable or Metastatic BRAF V600 Mutant Melanoma Active, not recruiting NCT01909453 Phase 3 LGX818;MEK162;vemurafenib
20 COMBI-AD: A Phase III Randomized Double Blind Study of Dabrafenib (GSK2118436) in COMBInation With Trametinib (GSK1120212) Versus Two Placebos in the ADjuvant Treatment of High-risk BRAF V600 Mutation-positive Melanoma After Surgical Resection Active, not recruiting NCT01682083 Phase 3 Dabrafenib;Trametinib;Placebos
21 A Phase III Randomized Trial Comparing Physician/Patient Choice of Either High Dose Interferon or Ipilimumab to MK-3475 (Pembrolizumab) in Patients With High Risk Resected Melanoma Active, not recruiting NCT02506153 Phase 3
22 Randomized Phase II/III Study of Nivolumab Plus Ipilimumab Plus Sargramostim Versus Nivolumab Plus Ipilimumab in Patients With Unresectable Stage III or Stage IV Melanoma Suspended NCT02339571 Phase 2, Phase 3
23 PV-10 Intralesional Injection vs Systemic Chemotherapy or Oncolytic Viral Therapy for Treatment of Locally Advanced Cutaneous Melanoma Terminated NCT02288897 Phase 3 PV-10 (10% rose bengal disodium);Dacarbazine, temozolomide or talimogene laherparepvec
24 A Randomized Phase II/III Trial of SCH 54031 PEG12000 Interferon Alfa-2b (PEG Intron) vs. INTRON®A as Adjuvant Therapy for Melanoma Terminated NCT03552549 Phase 2, Phase 3
25 Vaccination of Stage IV Cutaneous Melanoma Patients With Mature, Autologous Monocyte-Derived Dendritic Cells Transfected With Unselected Autologous Amplified Tumor-RNA Unknown status NCT00126685 Phase 1, Phase 2
26 Randomized, Open Phase II Study of Immunization With the Recombinant MAGE-3 Protein Combined With Adjuvant AS02B or AS15 in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Unknown status NCT00086866 Phase 2
27 Phase II Multicentric Uncontrolled National Trial Assessing the Efficacy of Nilotinib in First or Second Line Treatment of Primary Melanomas , Stage III Unresectable Melanomas, or Stage IV Melanomas With c-KIT Mutation or Amplification. Unknown status NCT01168050 Phase 2 Nilotinib
28 Phase II Evaluation of Concurrent Ipilimumab Therapy and Stereotactic Ablative Radiation Therapy (SART) for Oligometastatic But Unresectable Malignant Melanoma Unknown status NCT01565837 Phase 2 Ipilimumab
29 A Multi-centre, Two-arm, Randomized, Open, Phase II Study Investigating SentoClone® Compared to Reference Treatment in Advanced Malignant Melanoma Unknown status NCT00991250 Phase 2 Temodal® or Dacarbazine Medac®
30 A Randomized Discontinuation, Blinded, Placebo-Controlled Phase II Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
31 A Phase II Double-Blind Study of Topical Tretinoin With or Without Oral 4-HPR (Fenretinide) in Patients With the Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
32 Pilot Phase II, Open Label, Multicenter, Efficacy and Safety Study of 852A Administered Intravenously to Subjects With Unresectable Metastatic Cutaneous Melanoma. Completed NCT00189332 Phase 2 852A
33 A Multicenter, Open Label, Randomized Phase II Trial of the MEK Inhibitor Pimasertib or Dacarbazine in Previously Untreated Subjects With N-Ras Mutated Locally Advanced or Metastatic Malignant Cutaneous Melanoma Completed NCT01693068 Phase 2 Pimasertib;Dacarbazine
34 Clinical Activity, Safety and Immunogenic Properties of Cancer Immunotherapeutic GSK2132231A in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Completed NCT00896480 Phase 2
35 A Phase II Study to Evaluate the Efficacy and Safety of PTK787 in Patients With Metastatic Cutaneous Melanoma Completed NCT00563823 Phase 2 vatalanib
36 A Japanese Open-label Phase I/II Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of GSK2118436 and GSK1120212 Combination Therapy in Subjects With BRAF V600E/K Mutation Positive Advanced Solid Tumors (Phase I Part) and BRAF V600E/K Mutation Positive Cutaneous Melanoma (Phase II Part). Completed NCT01928940 Phase 2 dabrafenib;trametinib
37 A Phase II, Double-blind, Randomised Study to Assess the Efficacy of AZD6244 in Combination With Dacarbazine Compared With Dacarbazine Alone in First Line Patients With BRAF Mutation Positive Advanced Cutaneous or Unknown Primary Melanoma Completed NCT00936221 Phase 2 AZD6244;Dacarbazine;Placebo
38 Evaluation of the Nutritional Supplement Oncoxin-Viusid® in the Treatment of 20 Patients With Cutaneous Melanoma in Stage IIB-IIIA Completed NCT03541148 Phase 2
39 Vaccination of Stage IV Cutaneous Melanoma Patients With Mature, Autologous Monocyte-Derived Dendritic Cells Transfected With RNAs Encoding for Mage-3, MelanA, and Survivin Antigens Completed NCT00074230 Phase 1, Phase 2
40 Pilot Study Investigating the Metabolic Activity and Transcriptional Profiling in Vivo in Tumor Biopsies in Melanoma Patients During Treatment With Pazopanib Alone and in Combination With Paclitaxel Completed NCT01666418 Phase 2 Pazopanib/Paclitaxel
41 Phase II Study Incorporating Pegylated Interferon In the Treatment For Children With High-Risk Melanoma Completed NCT00539591 Phase 2 Peginterferon alfa-2b;Temozolomide;Recombinant interferon alfa-2b
42 A Phase 2, Open Label, Single Arm Study To Evaluate The Efficacy, Safety, Tolerability And Pharmacokinetics Of CP-675,206 In Patients With Advanced Refractory And/Or Relapsed Melanoma Completed NCT00254579 Phase 2 CP-675,206
43 A Study to Evaluate the Efficacy of Docetaxel and Carboplatin in Metastatic Malignant Melanoma Failed First-Line Dacabazine or Temozolomide Contained Therapy Completed NCT02223884 Phase 2 docetaxel 35mg/m2;Carboplatin AUC3
44 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
45 A Multiple Dose, Dose Escalation Trial of AEB1102 (Co-ArgI-PEG) in Patients With Advanced Solid Tumors Completed NCT02561234 Phase 1, Phase 2 Co-ArgI-PEG
46 A Phase II Trial of Combination Thalidomide Plus Temozolomide in Patients With Metastatic Malignant Melanoma Completed NCT00104988 Phase 2 temozolomide;thalidomide
47 A Phase 1b/2a Study Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of AMG 232 Combined With Trametinib and Dabrafenib or Trametinib in Adult Subjects With Metastatic Cutaneous Melanoma Completed NCT02110355 Phase 1, Phase 2 AMG 232;Trametinib;Dabrafenib
48 A Phase 2 Study of Intravenous Administration of REOLYSIN (Reovirus Type 3 Dearing) in Combination With Paclitaxel and Carboplatin in Patients With Metastatic Melanoma Completed NCT00984464 Phase 2 Carboplatin;Paclitaxel
49 A Phase II Study to Evaluate Safety and Efficacy of Combined Treatment With Ipilimumab and Intratumoral Interleukin-2 in Pretreated Patients With Stage IV Melanoma Completed NCT01480323 Phase 2 Interleukin-2;Ipilimumab
50 A Phase II Study of High-Dose Allovectin-7® in Patients With Advanced Metastatic Melanoma Completed NCT00044356 Phase 2

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 29

Anatomical Context for Melanoma, Cutaneous Malignant 1

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

40
Skin, Thyroid, Lymph Node, Eye, Breast, Brain, T Cells

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 543)
# Title Authors PMID Year
1
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 56 6
24670642 2014
2
TERT promoter mutations in familial and sporadic melanoma. 56 6
23348503 2013
3
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 56 6
23302800 2013
4
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. 56 6
20823850 2010
5
Inhibition of mutated, activated BRAF in metastatic melanoma. 56 6
20818844 2010
6
SLC45A2: a novel malignant melanoma-associated gene. 56 6
18563784 2008
7
High frequency of BRAF mutations in nevi. 56 6
12447372 2003
8
Mutations of the BRAF gene in human cancer. 56 6
12068308 2002
9
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 61 6
24686846 2014
10
POT1 loss-of-function variants predispose to familial melanoma. 61 6
24686849 2014
11
Novel and recurrent p14 mutations in Italian familial melanoma. 61 6
20132244 2010
12
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 61 56
19578365 2009
13
Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 61 6
15146471 2004
14
Exclusion of BRAFV599E as a melanoma susceptibility mutation. 61 6
12794760 2003
15
Absence of exon 15 BRAF germline mutations in familial melanoma. 61 6
12619120 2003
16
eMelanoBase: an online locus-specific variant database for familial melanoma. 61 56
12497626 2003
17
Germline mutation of ARF in a melanoma kindred. 61 6
12019208 2002
18
Identification of PTEN mutations in metastatic melanoma specimens. 61 6
10978354 2000
19
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 61 6
9699728 1998
20
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 61 6
9425228 1998
21
Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi. 61 56
8651266 1996
22
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. 61 6
8552158 1996
23
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 61 6
8528263 1996
24
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 61 6
8570179 1995
25
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 61 6
8595405 1995
26
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 61 6
7670475 1995
27
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. 61 6
7624155 1995
28
Germline p16 mutations in familial melanoma. 61 6
7987387 1994
29
Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. 61 56
1531137 1992
30
Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome". 61 56
2929655 1989
31
Dysplastic nevus syndrome: a phenotypic association of sporadic cutaneous melanoma. 61 56
7427881 1980
32
Precursor lesions in familial melanoma. 61 56
635599 1978
33
Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. 61 56
621895 1978
34
Familial melanoma. 61 56
5934369 1966
35
Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma. 56
30385465 2018
36
Exosomal PD-L1 contributes to immunosuppression and is associated with anti-PD-1 response. 56
30089911 2018
37
Codon-specific translation reprogramming promotes resistance to targeted therapy. 6
29925953 2018
38
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 6
28854169 2017
39
Mutations in the promoter of the telomerase gene TERT contribute to tumorigenesis by a two-step mechanism. 56
28818973 2017
40
Whole-genome landscapes of major melanoma subtypes. 56
28467829 2017
41
A PGC1α-mediated transcriptional axis suppresses melanoma metastasis. 56
27580028 2016
42
Recurrent inactivating RASA2 mutations in melanoma. 56
26502337 2015
43
Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma. 56
26559592 2015
44
Anticancer immunotherapy by CTLA-4 blockade relies on the gut microbiota. 56
26541610 2015
45
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. 56
26359337 2015
46
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
47
Genetic basis for clinical response to CTLA-4 blockade in melanoma. 56
25409260 2014
48
FDA approval summary: vemurafenib for treatment of unresectable or metastatic melanoma with the BRAFV600E mutation. 6
25096067 2014
49
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 6
25079330 2014
50
Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53. 56
24919155 2014

Variations for Melanoma, Cutaneous Malignant 1

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 1:

6 (show top 50) (show all 176) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKN2A NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter)SNV Likely pathogenic,risk factor 9409 rs121913388 9:21971120-21971120 9:21971121-21971121
2 CDK4 NM_000075.4(CDK4):c.71G>A (p.Arg24His)SNV Likely pathogenic,risk factor 16929 rs104894340 12:58145430-58145430 12:57751647-57751647
3 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 39648 rs121913237 1:115258747-115258747 1:114716126-114716126
4 BRAF NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)SNV Pathogenic 40388 rs121913375 7:140453139-140453139 7:140753339-140753339
5 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 40468 rs121913250 1:115258748-115258748 1:114716127-114716127
6 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)SNV Pathogenic 40469 rs121913250 1:115258748-115258748 1:114716127-114716127
7 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 40470 rs121913237 1:115258747-115258747 1:114716126-114716126
8 NRAS NM_002524.5(NRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 40471 rs121434595 1:115258745-115258745 1:114716124-114716124
9 MAP2K1 NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn)SNV Pathogenic 40781 rs727504317 15:66727483-66727483 15:66435145-66435145
10 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)SNV Pathogenic 280409 rs11554290 1:115256529-115256529 1:114713908-114713908
11 NRAS NM_002524.5(NRAS):c.183A>T (p.Gln61His)SNV Pathogenic 373003 rs121913255 1:115256528-115256528 1:114713907-114713907
12 BRAF NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)SNV Pathogenic 372572 rs121913349 7:140481418-140481418 7:140781618-140781618
13 NRAS NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu)indel Pathogenic 375872 rs1057519695 1:115256528-115256529 1:114713907-114713908
14 NRAS NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg)indel Pathogenic 375873 rs1057519695 1:115256528-115256529 1:114713907-114713908
15 NRAS NM_002524.5(NRAS):c.181C>G (p.Gln61Glu)SNV Pathogenic 375875 rs121913254 1:115256530-115256530 1:114713909-114713909
16 BRAF NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser)indel Pathogenic 375942 rs121913368 7:140453145-140453146 7:140753345-140753346
17 BRAF NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)SNV Pathogenic 180789 rs121913341 7:140453150-140453150 7:140753350-140753350
18 STK11 NM_000455.4(STK11):c.145T>G (p.Tyr49Asp)SNV Pathogenic 7456 rs137853080 19:1207057-1207057 19:1207058-1207058
19 STK11 NM_000455.4(STK11):c.403G>C (p.Gly135Arg)SNV Pathogenic 7457 rs137853081 19:1219351-1219351 19:1219352-1219352
20 PTEN NM_000314.7(PTEN):c.633C>A (p.Cys211Ter)SNV Pathogenic 7836 rs121909232 10:89712015-89712015 10:87952258-87952258
21 PTEN NM_001304718.2(PTEN):c.-651G>ASNV Pathogenic 7837 rs121909233 10:89624281-89624281 10:87864524-87864524
22 PTEN NM_000314.7(PTEN):c.649G>A (p.Val217Ile)SNV Pathogenic 7838 rs121909234 10:89717624-89717624 10:87957867-87957867
23 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127
24 BRAF NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)SNV Pathogenic 177672 rs121913341 7:140453150-140453150 7:140753350-140753350
25 NRAS NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 219097 rs121913237 1:115258747-115258747 1:114716126-114716126
26 HRAS NM_005343.4(HRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12600 rs104894230 11:534288-534288 11:534288-534288
27 KIT NM_000222.2(KIT):c.2446G>C (p.Asp816His)SNV Pathogenic 13863 rs121913506 4:55599320-55599320 4:54733154-54733154
28 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
29 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
30 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
31 BRAF NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)SNV Pathogenic 13966 rs121913364 7:140453134-140453134 7:140753334-140753334
32 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
33 BRAF NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)SNV Pathogenic 13970 rs121913357 7:140481403-140481403 7:140781603-140781603
34 BRAF NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)SNV Pathogenic 13972 rs121913338 7:140453154-140453154 7:140753354-140753354
35 BRAF NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)SNV Pathogenic 13974 rs121913355 7:140481402-140481402 7:140781602-140781602
36 NRAS NM_002524.5(NRAS):c.38G>C (p.Gly13Ala)SNV Pathogenic 375877 rs121434596 1:115258744-115258744 1:114716123-114716123
37 KIT NM_000222.2(KIT):c.1510T>C (p.Phe504Leu)SNV Pathogenic 375904 rs1057519702 4:55592186-55592186 4:54726020-54726020
38 KIT NM_000222.2(KIT):c.1650A>C (p.Lys550Asn)SNV Pathogenic 375905 rs1057519703 4:55593584-55593584 4:54727418-54727418
39 KIT NM_000222.2(KIT):c.1650A>T (p.Lys550Asn)SNV Pathogenic 375906 rs1057519703 4:55593584-55593584 4:54727418-54727418
40 KIT NM_000222.2(KIT):c.1657T>A (p.Tyr553Asn)SNV Pathogenic 375907 rs1057519704 4:55593591-55593591 4:54727425-54727425
41 KIT NM_000222.2(KIT):c.1674G>C (p.Lys558Asn)SNV Pathogenic 375910 rs200375589 4:55593608-55593608 4:54727442-54727442
42 KIT NM_000222.2(KIT):c.1696A>G (p.Asn566Asp)SNV Pathogenic 375917 rs1057519705 4:55593630-55593630 4:54727464-54727464
43 KIT NM_000222.2(KIT):c.1706T>G (p.Val569Gly)SNV Pathogenic 375918 rs1057519706 4:55593640-55593640 4:54727474-54727474
44 KIT NM_000222.2(KIT):c.1679T>C (p.Val560Ala)SNV Pathogenic 375915 rs121913521 4:55593613-55593613 4:54727447-54727447
45 KIT NM_000222.2(KIT):c.2458G>C (p.Asp820His)SNV Pathogenic 375927 rs1057519710 4:55599332-55599332 4:54733166-54733166
46 KIT NM_000222.2(KIT):c.2458G>T (p.Asp820Tyr)SNV Pathogenic 375928 rs1057519710 4:55599332-55599332 4:54733166-54733166
47 BRAF NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp)indel Pathogenic 375939 rs121913377 7:140453135-140453136 7:140753335-140753336
48 BRAF NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)indel Pathogenic 375940 rs121913227 7:140453136-140453137 7:140753336-140753337
49 BRAF NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)indel Pathogenic 375941 rs121913227 7:140453136-140453137 7:140753336-140753337
50 BRAF NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu)SNV Pathogenic 375945 rs121913337 7:140453153-140453153 7:140753353-140753353

Cosmic variations for Melanoma, Cutaneous Malignant 1:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 3
2 COSM93665204 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 3
3 COSM93692305 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 3
4 COSM88321369 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 3
5 COSM99100400 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
6 COSM99100596 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
7 COSM99112008 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 3
8 COSM96990932 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
9 COSM87493313 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 3
10 COSM150563774 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 3
11 COSM150564452 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 3
12 COSM150570620 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 3
13 COSM150565869 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 3
14 COSM150585368 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 3
15 COSM149414554 skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 3
16 COSM88812698 skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 3
17 COSM118795694 skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 3
18 COSM88803061 skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 3
19 COSM97223158 skin,ear,malignant melanoma,NS c.103+42C>T p.? 6:88145130-88145130 3
20 COSM118813778 skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 3
21 COSM88806346 skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 3
22 COSM118790577 skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 3
23 COSM89609735 skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
24 COSM144455643 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 3
25 COSM152018575 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
26 COSM93539965 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 3
27 COSM118787231 skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 3
28 COSM108059286 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
29 COSM135206415 skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
30 COSM117327995 skin,ear,malignant melanoma,NS c.63-17C>T p.? 6:88145130-88145130 3
31 COSM135217389 skin,ear,malignant melanoma,NS c.3773-19C>T p.? 16:9763447-9763447 3
32 COSM131440106 skin,ear,malignant melanoma,NS c.1548G>A p.M516I 16:9829471-9829471 3
33 COSM89609531 skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
34 COSM135206628 skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
35 COSM149385292 skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 3
36 COSM96983478 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
37 COSM149386940 skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 3
38 COSM89621238 skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 3
39 COSM149388933 skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 3
40 COSM88834639 skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 3
41 COSM118788384 skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 3
42 COSM131447592 skin,ear,malignant melanoma,NS c.3362-19C>T p.? 16:9763447-9763447 3
43 COSM93519256 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 3
44 COSM149394818 skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 3
45 COSM88804430 skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 3
46 COSM131440017 skin,ear,malignant melanoma,NS c.2806G>A p.E936K 16:9764327-9764327 3

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

7
# CNVD ID Chromosome 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 165)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.33 STK11 PTEN PIK3CA NRAS MC1R MAP2K2
2
Show member pathways
13.99 STK11 PTEN NRAS MAP2K2 MAP2K1 KIT
3
Show member pathways
13.83 NRAS MAP2K2 MAP2K1 KIT HRAS GNA11
4
Show member pathways
13.67 NRAS MAP2K2 MAP2K1 KIT HRAS GNA11
5
Show member pathways
13.66 PIK3CA NRAS MAP2K2 MAP2K1 KIT HRAS
6
Show member pathways
13.65 PIK3CA NRAS MAP2K2 MAP2K1 KIT HRAS
7
Show member pathways
13.57 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
8
Show member pathways
13.47 PIK3CA NRAS MAP2K2 MAP2K1 KIT HRAS
9
Show member pathways
13.44 PTEN NRAS MAP2K2 MAP2K1 KIT HRAS
10
Show member pathways
13.4 NRAS MAP2K2 MAP2K1 KIT HRAS CTNNB1
11
Show member pathways
13.37 PTEN NRAS MAP2K2 MAP2K1 HRAS GNAQ
12
Show member pathways
13.29 PIK3CA NRAS MAP2K2 MAP2K1 HRAS GNAQ
13
Show member pathways
13.25 PTEN NRAS MAP2K2 MAP2K1 KIT HRAS
14
Show member pathways
13.22 NRAS MAP2K2 MAP2K1 HRAS GNA11 CTNNB1
15
Show member pathways
13.21 STK11 NRAS MAP2K2 MAP2K1 KIT HRAS
16
Show member pathways
13.16 NRAS MAP2K2 MAP2K1 HRAS GNA11 CTNNB1
17
Show member pathways
13.15 STK11 PTEN PIK3CA NRAS MAP2K2 MAP2K1
18
Show member pathways
13.14 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
19
Show member pathways
13.11 PTEN NRAS MAP2K2 MAP2K1 HRAS CTNNB1
20
Show member pathways
13.09 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
21
Show member pathways
13.08 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
22
Show member pathways
13.08 PIK3CA NRAS MAP2K2 MAP2K1 HRAS GNAQ
23
Show member pathways
13.05 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
24
Show member pathways
13.03 PIK3CA NRAS MAP2K1 HRAS GNA11 BRAF
25
Show member pathways
13.03 STK11 PIK3CA NRAS MAP2K2 MAP2K1 HRAS
26
Show member pathways
12.99 NRAS MAP2K2 MAP2K1 HRAS GNA11 CTNNB1
27
Show member pathways
12.98 PIK3CA NRAS MAP2K2 MAP2K1 KIT HRAS
28
Show member pathways
12.97 PIK3CA NRAS MAP2K2 MAP2K1 HRAS CDKN2A
29
Show member pathways
12.94 PTEN PIK3CA MAP2K2 MAP2K1 HRAS BRAF
30
Show member pathways
12.93 PIK3CA NRAS MAP2K1 HRAS GNAQ GNA11
31 12.93 NRAS MAP2K2 MAP2K1 KIT HRAS BRAF
32
Show member pathways
12.92 PTEN PIK3CA NRAS MAP2K2 MAP2K1 KIT
33
Show member pathways
12.91 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
34
Show member pathways
12.9 PIK3CA NRAS MAP2K2 MAP2K1 KIT HRAS
35
Show member pathways
12.87 PIK3CA NRAS MAP2K2 MAP2K1 HRAS GNAQ
36
Show member pathways
12.85 PTEN PIK3CA NRAS KIT HRAS
37
Show member pathways
12.84 NRAS MAP2K2 MAP2K1 HRAS GNA11 BRAF
38
Show member pathways
12.82 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
39
Show member pathways
12.82 PIK3CA NRAS MAP2K2 MAP2K1 HRAS GNAQ
40
Show member pathways
12.82 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
41 12.81 PIK3CA NRAS MAP2K2 MAP2K1 HRAS BRAF
42
Show member pathways
12.8 NRAS MAP2K2 MAP2K1 HRAS BRAF
43
Show member pathways
12.8 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
44
Show member pathways
12.77 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
45 12.74 PTEN PIK3CA NRAS MAP2K2 MAP2K1 HRAS
46
Show member pathways
12.73 MAP2K2 MAP2K1 HRAS GNAQ GNA11
47
Show member pathways
12.72 PIK3CA MAP2K2 MAP2K1 HRAS GNA11
48
Show member pathways
12.71 PIK3CA NRAS MAP2K2 MAP2K1 HRAS BRAF
49
Show member pathways
12.71 PIK3CA NRAS MAP2K2 MAP2K1 HRAS CTNNB1
50
Show member pathways
12.7 NRAS MC1R MAP2K2 MAP2K1 KIT HRAS

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 cytoplasm GO:0005737 9.8 TERF2IP STK11 PTEN PIK3CA MAP2K2 MAP2K1
2 cytoplasmic side of plasma membrane GO:0009898 8.8 PTEN MAP2K2 KIT

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.25 NRAS MC1R MAP2K1 KIT HRAS GNAQ
2 protein phosphorylation GO:0006468 9.98 STK11 PIK3CA MAP2K2 MAP2K1 KIT CDK4
3 negative regulation of cell proliferation GO:0008285 9.97 STK11 PTEN MAP2K1 HRAS CTNNB1 CDKN2A
4 negative regulation of gene expression GO:0010629 9.96 MAP2K2 MAP2K1 HRAS CTNNB1 CDKN2B-AS1
5 heart development GO:0007507 9.95 PTEN MAP2K2 MAP2K1 GNA11 CTNNB1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.94 PTEN MAP2K1 HRAS BRAF
7 regulation of cell proliferation GO:0042127 9.92 KIT CTNNB1 CDK4 BRAF
8 phosphorylation GO:0016310 9.92 STK11 PIK3CA MAP2K2 MAP2K1 KIT CDKN2A
9 T cell receptor signaling pathway GO:0050852 9.91 STK11 PIK3CA HRAS BRAF
10 peptidyl-tyrosine phosphorylation GO:0018108 9.88 MAP2K2 MAP2K1 KIT BRAF
11 cell cycle arrest GO:0007050 9.88 STK11 MAP2K1 HRAS CDKN2A
12 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.85 TERF2IP PIK3CA BRAF
13 MAPK cascade GO:0000165 9.85 NRAS MAP2K2 MAP2K1 KIT HRAS BRAF
14 Ras protein signal transduction GO:0007265 9.83 NRAS HRAS CDKN2A
15 canonical Wnt signaling pathway GO:0060070 9.81 STK11 PTEN CTNNB1
16 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.79 PTEN CDKN2A CDK4
17 activation of protein kinase activity GO:0032147 9.78 STK11 PIK3CA MAP2K2 MAP2K1
18 thyroid gland development GO:0030878 9.71 MAP2K2 MAP2K1 BRAF
19 thymus development GO:0048538 9.71 MAP2K2 MAP2K1 CTNNB1 BRAF
20 vasculature development GO:0001944 9.7 STK11 PIK3CA CTNNB1
21 cellular senescence GO:0090398 9.69 MAP2K1 HRAS CDKN2A
22 positive regulation of phospholipase C activity GO:0010863 9.68 KIT HRAS
23 developmental pigmentation GO:0048066 9.67 KIT GNA11
24 anoikis GO:0043276 9.67 STK11 PIK3CA
25 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.67 MAP2K2 MAP2K1
26 somatic stem cell division GO:0048103 9.66 KIT CDKN2A
27 regulation of stress-activated MAPK cascade GO:0032872 9.66 MAP2K2 MAP2K1
28 regulation of protein heterodimerization activity GO:0043497 9.65 MAP2K2 MAP2K1
29 phototransduction, visible light GO:0007603 9.65 GNAQ GNA11
30 regulation of early endosome to late endosome transport GO:2000641 9.63 MAP2K2 MAP2K1
31 entrainment of circadian clock GO:0009649 9.63 GNAQ GNA11
32 face development GO:0060324 9.63 MAP2K2 MAP2K1 BRAF
33 myeloid progenitor cell differentiation GO:0002318 9.61 KIT BRAF
34 regulation of Golgi inheritance GO:0090170 9.59 MAP2K2 MAP2K1
35 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.57 MAP2K2 MAP2K1
36 positive regulation of gene expression GO:0010628 9.56 PTEN MAP2K1 KIT HRAS CTNNB1 CDKN2B-AS1
37 positive regulation of axonogenesis GO:0050772 9.46 STK11 MAP2K2 MAP2K1 BRAF
38 trachea formation GO:0060440 9.43 MAP2K2 MAP2K1 CTNNB1
39 regulation of axon regeneration GO:0048679 8.92 PTEN MAP2K2 MAP2K1 BRAF

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 9.85 STK11 MAP2K2 MAP2K1 KIT CDK4 BRAF
2 protein serine/threonine kinase activity GO:0004674 9.63 STK11 PIK3CA MAP2K2 MAP2K1 CDK4 BRAF
3 protein tyrosine kinase activity GO:0004713 9.56 MAP2K2 MAP2K1 KIT BRAF
4 kinase activity GO:0016301 9.56 STK11 PIK3CA MAP2K2 MAP2K1 KIT CDKN2A
5 type 2A serotonin receptor binding GO:0031826 9.32 GNAQ GNA11
6 nucleotide binding GO:0000166 9.17 NRAS MAP2K2 MAP2K1 KIT HRAS CDK4

Sources for Melanoma, Cutaneous Malignant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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