CMM1
MCID: MLN066
MIFTS: 69

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 57
Familial Melanoma 12 59 15
Melanoma, Cutaneous Malignant, 1 57 13
Cutaneous Malignant Melanoma 1 29 6
Melanoma, Familial 57 53
Familial Atypical Mole-Malignant Melanoma Syndrome; Fammm 57
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1 40
Melanoma, Cutaneous Malignant, Susceptibility to, 1 57
Familial Atypical Mole-Malignant Melanoma Syndrome 57
Dysplastic Nevus Syndrome, Hereditary; Dns 57
Familial Atypical Mole Melanoma Syndrome 72
Dysplastic Nevus Syndrome, Hereditary 57
Melanoma, Cutaneous Malignant; Cmm 57
Melanoma, Cutaneous Malignant 57
Dysplastic Nevus Syndrome 72
Melanoma, Familial; Mlm 57
Melanoma, Malignant 57
Hereditary Melanoma 72
Cutaneous Melanoma 72
B-K Mole Syndrome 57
Fammm 57
Cmm1 57
Cmm 57
Mlm 57
Dns 57

Characteristics:

Orphanet epidemiological data:

59
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma, cutaneous malignant 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:6846
NCIt 50 C8498
UMLS via Orphanet 73 C2314896
Orphanet 59 ORPHA618
MedGen 42 C1835047
UMLS 72 C0013403 C0151779 C1512419 more

Summaries for Melanoma, Cutaneous Malignant 1

OMIM : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). (155600)

MalaCards based summary : Melanoma, Cutaneous Malignant 1, also known as familial melanoma, is related to malignant conjunctival melanoma and skin melanoma. 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 Apoptotic Pathways in Synovial Fibroblasts. The drugs Peginterferon alfa-2a and Talimogene laherparepvec have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and eye, 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 346)
# Related Disease Score Top Affiliating Genes
1 malignant conjunctival melanoma 33.8 NRAS HRAS GNAQ GNA11
2 skin melanoma 33.8 NRAS CDKN2A BRAF
3 vulvar melanoma 33.7 NRAS KIT HRAS
4 pancreatic cancer 33.1 STK11 PIK3CA MAP2K1 HRAS CTNNB1 CDKN2B-AS1
5 melanocytic nevus syndrome, congenital 33.1 STK11 NRAS MC1R HRAS
6 melanoma 31.7 PTEN NRAS MC1R MAP2K1 CDKN2B-AS1 CDKN2A
7 nodular malignant melanoma 31.4 NRAS HRAS GNAQ
8 neurofibromatosis, type iv, of riccardi 31.3 KIT HRAS CDKN2B-AS1
9 melanoma-pancreatic cancer syndrome 31.2 CDKN2B-AS1 CDKN2A
10 mucosal melanoma 31.2 NRAS KIT GNAQ GNA11 BRAF
11 acral lentiginous melanoma 31.0 NRAS KIT CDKN2A BRAF
12 giant congenital nevus 31.0 NRAS HRAS
13 melanoma, uveal 30.9 NRAS MC1R GNAQ GNA11 CDKN2A CDK4
14 malignant skin fibrous histiocytoma 30.8 NRAS KIT HRAS
15 squamous cell carcinoma 30.8 STK11 PTEN PIK3CA HRAS CTNNB1 CDKN2B-AS1
16 cervical cancer 30.6 STK11 PTEN PIK3CA HRAS CTNNB1 CDKN2B-AS1
17 adenocarcinoma 30.6 STK11 PTEN PIK3CA MAP2K1 KIT HRAS
18 differentiated thyroid carcinoma 30.5 NRAS HRAS BRAF
19 testicular germ cell tumor 30.5 STK11 PTEN KIT HRAS BRAF
20 glioblastoma multiforme 30.3 PTEN PIK3CA CDKN2A CDK4
21 glioblastoma 30.2 PTEN PIK3CA NRAS HRAS CDKN2A CDK4
22 colorectal cancer 29.6 STK11 PTEN PIK3CA NRAS MAP2K1 HRAS
23 melanoma, cutaneous malignant 3 12.8
24 melanoma, cutaneous malignant 5 12.8
25 melanoma, cutaneous malignant 6 12.8
26 melanoma, cutaneous malignant 9 12.8
27 melanoma, cutaneous malignant 10 12.8
28 melanoma, cutaneous malignant 4 12.5
29 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.3
30 mirror movements 1 12.3
31 melanoma, malignant familial intraocular 12.2
32 microvascular complications of diabetes 3 12.0
33 diabetic neuropathy 11.7
34 malignant choroid melanoma 11.7
35 malignant ciliary body melanoma 11.7
36 malignant iris melanoma 11.7
37 skin/hair/eye pigmentation, variation in, 3 11.5
38 clear cell sarcoma 11.5
39 malignant anus melanoma 11.3
40 malignant cornea melanoma 11.3
41 retinal melanoma 11.3
42 tumor predisposition syndrome 11.2
43 bap1 tumor predisposition syndrome 11.2
44 melanoma, cutaneous malignant 2 11.2
45 melanoma, cutaneous malignant 7 11.2
46 melanoma, cutaneous malignant 8 11.2
47 down syndrome 11.2
48 autoimmune lymphoproliferative syndrome 11.2
49 malignant eyelid melanoma 11.2
50 rectum malignant melanoma 11.2

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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
2 melanoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002861
3 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
4 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
5 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
6 abnormal hair morphology 32 frequent (33%) HP:0001595
7 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
8 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
9 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
10 neoplasm of the breast 59 32 occasional (7.5%) Occasional (29-5%) HP:0100013
11 neoplasm of the stomach 59 32 occasional (7.5%) Occasional (29-5%) HP:0006753
12 abnormality of the eye 32 HP:0000478
13 abnormality of the hair 59 Frequent (79-30%)
14 cutaneous melanoma 32 HP:0012056
15 numerous nevi 32 HP:0001054
16 atypical nevus 32 HP:0001062
17 atypical nevi in non-sun exposed areas 32 HP:0001074
18 uveal melanoma 32 HP:0007716

Symptoms via clinical synopsis from OMIM:

57
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 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:

46 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
2 behavior/neurological MP:0005386 10.45 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
3 cardiovascular system MP:0005385 10.44 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
4 cellular MP:0005384 10.44 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
5 integument MP:0010771 10.42 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
6 endocrine/exocrine gland MP:0005379 10.41 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
7 homeostasis/metabolism MP:0005376 10.41 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
8 mortality/aging MP:0010768 10.39 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
9 immune system MP:0005387 10.37 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
10 embryo MP:0005380 10.35 BRAF CDK4 CDKN2A CTNNB1 KIT MAP2K1
11 craniofacial MP:0005382 10.32 BRAF CTNNB1 GNA11 GNAQ HRAS KIT
12 hematopoietic system MP:0005397 10.32 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
13 digestive/alimentary MP:0005381 10.31 BRAF CDK4 CDKN2A CTNNB1 HRAS KIT
14 neoplasm MP:0002006 10.26 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 muscle MP:0005369 10.19 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
18 limbs/digits/tail MP:0005371 10.14 BRAF CTNNB1 GNA11 GNAQ KIT MC1R
19 normal MP:0002873 10.14 BRAF CDK4 CTNNB1 GNA11 GNAQ HRAS
20 hearing/vestibular/ear MP:0005377 10.13 BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
21 no phenotypic analysis MP:0003012 10.13 CDKN2A CTNNB1 HRAS KIT MC1R NRAS
22 pigmentation MP:0001186 10.11 BRAF CDK4 CDKN2A CTNNB1 GNA11 GNAQ
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 9.7 BRAF CDKN2A CTNNB1 GNA11 GNAQ HRAS
27 vision/eye MP:0005391 9.32 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 175)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
2
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
3
Pembrolizumab Approved Phase 3 1374853-91-4
4
Ipilimumab Approved Phase 3 477202-00-9
5
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
6
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
7
Peginterferon alfa-2b Approved Phase 2, Phase 3 99210-65-8, 215647-85-1
8 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
9
BCG vaccine Investigational Phase 2, Phase 3
10
Oblimersen Experimental, Investigational Phase 3 190977-41-4
11 Saponin QA-21V1 Phase 3
12 Liver Extracts Phase 3
13 Antiemetics Phase 3
14 Antibodies Phase 3
15 Antibodies, Monoclonal Phase 3
16 Immunoglobulins Phase 3
17 Antineoplastic Agents, Immunological Phase 3
18
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
19
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
20
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
21
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
22
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
23
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
24
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
25
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
26
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
27
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Propranolol Approved, Investigational Phase 1, Phase 2 525-66-6 4946
30
Denosumab Approved Phase 2 615258-40-7
31
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
32
Olaparib Approved Phase 2 763113-22-0 23725625
33
Trabectedin Approved, Investigational Phase 1, Phase 2 114899-77-3 108150
34
Vemurafenib Approved Phase 2 918504-65-1 42611257 23252090
35
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
36
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
37
Bevacizumab Approved, Investigational Phase 2 216974-75-3
38
Polidocanol Approved Phase 2 9002-92-0
39
Trametinib Approved Phase 2 871700-17-3 11707110
40
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
41
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
42
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
Mesna Approved, Investigational Phase 2 3375-50-6 598
45
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
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 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
50
Fenretinide Investigational Phase 2 65646-68-6

Interventional clinical trials:

(show top 50) (show all 212)
# 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 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
7 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
8 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
9 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
10 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
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 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
13 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
14 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
15 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
16 PV-10 Intralesional Injection vs Systemic Chemotherapy or Oncolytic Viral Therapy for Treatment of Locally Advanced Cutaneous Melanoma Active, not recruiting NCT02288897 Phase 3 PV-10 (10% rose bengal disodium);Dacarbazine, temozolomide or talimogene laherparepvec
17 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 Active, not recruiting NCT01763164 Phase 3 MEK162;Dacarbazine
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 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) Not yet recruiting NCT03860883 Phase 3
23 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
24 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
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 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
27 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®
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 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
30 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
31 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
32 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
33 Clinical Activity, Safety and Immunogenic Properties of Cancer Immunotherapeutic GSK2132231A in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Completed NCT00896480 Phase 2
34 A Phase II Study to Evaluate the Efficacy and Safety of PTK787 in Patients With Metastatic Cutaneous Melanoma Completed NCT00563823 Phase 2 vatalanib
35 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
36 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
37 Evaluation of the Nutritional Supplement Oncoxin-Viusid® in the Treatment of 20 Patients With Cutaneous Melanoma in Stage IIB-IIIA Completed NCT03541148 Phase 2
38 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
39 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
40 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
41 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
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 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
44 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
45 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
46 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
47 A Phase II Trial of Combination Thalidomide Plus Temozolomide in Patients With Metastatic Malignant Melanoma Completed NCT00104988 Phase 2 temozolomide;thalidomide
48 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
49 A Phase II Study of High-Dose Allovectin-7® in Patients With Advanced Metastatic Melanoma Completed NCT00044356 Phase 2
50 A Multi-centre, Two-stage, Open Label Phase II Study to Assess the Efficacy and Safety of APO866 in the Treatment of Patients With Advanced Melanoma. Completed NCT00432107 Phase 2 APO866

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Ipilimumab

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:

41
Skin, Lymph Node, Eye, Testes, Brain, Liver, Pancreas

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 540)
# Title Authors PMID Year
1
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 8 71
24670642 2014
2
TERT promoter mutations in familial and sporadic melanoma. 8 71
23348503 2013
3
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 8 71
23302800 2013
4
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. 8 71
20823850 2010
5
Inhibition of mutated, activated BRAF in metastatic melanoma. 8 71
20818844 2010
6
SLC45A2: a novel malignant melanoma-associated gene. 8 71
18563784 2008
7
High frequency of BRAF mutations in nevi. 8 71
12447372 2003
8
Mutations of the BRAF gene in human cancer. 8 71
12068308 2002
9
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 38 71
24686846 2014
10
POT1 loss-of-function variants predispose to familial melanoma. 38 71
24686849 2014
11
Novel and recurrent p14 mutations in Italian familial melanoma. 38 71
20132244 2010
12
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 38 8
19578365 2009
13
Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 38 71
15146471 2004
14
Exclusion of BRAFV599E as a melanoma susceptibility mutation. 38 71
12794760 2003
15
Absence of exon 15 BRAF germline mutations in familial melanoma. 38 71
12619120 2003
16
eMelanoBase: an online locus-specific variant database for familial melanoma. 38 8
12497626 2003
17
Germline mutation of ARF in a melanoma kindred. 38 71
12019208 2002
18
Identification of PTEN mutations in metastatic melanoma specimens. 38 71
10978354 2000
19
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 38 71
9699728 1998
20
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 38 71
9425228 1998
21
Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi. 38 8
8651266 1996
22
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. 38 71
8552158 1996
23
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 38 71
8528263 1996
24
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 38 71
8570179 1995
25
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 38 71
8595405 1995
26
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 38 71
7670475 1995
27
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. 38 71
7624155 1995
28
Germline p16 mutations in familial melanoma. 38 71
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. 38 8
1531137 1992
30
Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome". 38 8
2929655 1989
31
Dysplastic nevus syndrome: a phenotypic association of sporadic cutaneous melanoma. 38 8
7427881 1980
32
Precursor lesions in familial melanoma. 38 8
635599 1978
33
Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. 38 8
621895 1978
34
Familial melanoma. 38 8
5934369 1966
35
Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma. 8
30385465 2018
36
Exosomal PD-L1 contributes to immunosuppression and is associated with anti-PD-1 response. 8
30089911 2018
37
Codon-specific translation reprogramming promotes resistance to targeted therapy. 71
29925953 2018
38
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 71
28854169 2017
39
Mutations in the promoter of the telomerase gene TERT contribute to tumorigenesis by a two-step mechanism. 8
28818973 2017
40
Whole-genome landscapes of major melanoma subtypes. 8
28467829 2017
41
A PGC1α-mediated transcriptional axis suppresses melanoma metastasis. 8
27580028 2016
42
Recurrent inactivating RASA2 mutations in melanoma. 8
26502337 2015
43
Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma. 8
26559592 2015
44
Anticancer immunotherapy by CTLA-4 blockade relies on the gut microbiota. 8
26541610 2015
45
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. 8
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. 71
25394175 2015
47
Genetic basis for clinical response to CTLA-4 blockade in melanoma. 8
25409260 2014
48
FDA approval summary: vemurafenib for treatment of unresectable or metastatic melanoma with the BRAFV600E mutation. 71
25096067 2014
49
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 71
25079330 2014
50
Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53. 8
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 9:21971120-21971120 9:21971121-21971121
2 CDK4 NM_000075.4(CDK4): c.71G> A (p.Arg24His) single nucleotide variant Likely pathogenic,risk factor rs104894340 12:58145430-58145430 12:57751647-57751647
3 BRAF NM_004333.6(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic rs121913369 7:140453146-140453146 7:140753346-140753346
4 BRAF NM_004333.6(BRAF): c.1405G> C (p.Gly469Arg) single nucleotide variant Pathogenic rs121913357 7:140481403-140481403 7:140781603-140781603
5 BRAF NM_004333.6(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 7:140453154-140453154 7:140753354-140753354
6 BRAF NM_004333.6(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 7:140481402-140481402 7:140781602-140781602
7 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic rs121913506 4:55599320-55599320 4:54733154-54733154
8 NRAS NM_002524.5(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 1:115256529-115256529 1:114713908-114713908
9 NRAS NM_002524.5(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
10 BRAF NM_004333.6(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 7:140453136-140453136 7:140753336-140753336
11 BRAF NM_004333.6(BRAF): c.1801A> G (p.Lys601Glu) single nucleotide variant Pathogenic rs121913364 7:140453134-140453134 7:140753334-140753334
12 NRAS NM_002524.5(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 1:115258747-115258747 1:114716126-114716126
13 NRAS NM_002524.5(NRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
14 NRAS NM_002524.5(NRAS): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
15 NRAS NM_002524.5(NRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913237 1:115258747-115258747 1:114716126-114716126
16 NRAS NM_002524.5(NRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs121434595 1:115258745-115258745 1:114716124-114716124
17 BRAF NM_004333.6(BRAF): c.1796C> T (p.Thr599Ile) single nucleotide variant Pathogenic rs121913375 7:140453139-140453139 7:140753339-140753339
18 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 15:66727483-66727483 15:66435145-66435145
19 KIT NM_000222.2(KIT): c.2458G> C (p.Asp820His) single nucleotide variant Pathogenic rs1057519710 4:55599332-55599332 4:54733166-54733166
20 KIT NM_000222.2(KIT): c.2458G> T (p.Asp820Tyr) single nucleotide variant Pathogenic rs1057519710 4:55599332-55599332 4:54733166-54733166
21 BRAF NM_004333.6(BRAF): c.1799_1800delinsAT (p.Val600Asp) indel Pathogenic rs121913377 7:140453135-140453136 7:140753335-140753336
22 BRAF NM_004333.6(BRAF): c.1798_1799delinsAG (p.Val600Arg) indel Pathogenic rs121913227 7:140453136-140453137 7:140753336-140753337
23 BRAF NM_004333.6(BRAF): c.1798_1799delinsAA (p.Val600Lys) indel Pathogenic rs121913227 7:140453136-140453137 7:140753336-140753337
24 BRAF NM_004333.6(BRAF): c.1782T> G (p.Asp594Glu) single nucleotide variant Pathogenic rs121913337 7:140453153-140453153 7:140753353-140753353
25 BRAF NM_004333.6(BRAF): c.1782T> A (p.Asp594Glu) single nucleotide variant Pathogenic rs121913337 7:140453153-140453153 7:140753353-140753353
26 BRAF NM_004333.6(BRAF): c.1779_1780delinsGA (p.Asp594Asn) indel Pathogenic rs1057519718 7:140453155-140453156 7:140753355-140753356
27 GNAQ NM_002072.5(GNAQ): c.626A> G (p.Gln209Arg) single nucleotide variant Pathogenic rs121913492 9:80409488-80409488 9:77794572-77794572
28 MAP2K1 NM_002755.3(MAP2K1): c.157T> C (p.Phe53Leu) single nucleotide variant Pathogenic rs1057519728 15:66727441-66727441 15:66435103-66435103
29 MAP2K1 NM_002755.3(MAP2K1): c.332T> G (p.Ile111Ser) single nucleotide variant Pathogenic rs1057519730 15:66729124-66729124 15:66436786-66436786
30 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 19:1207057-1207057 19:1207058-1207058
31 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 19:1219351-1219351 19:1219352-1219352
32 PTEN NM_000314.7(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 10:89712015-89712015 10:87952258-87952258
33 PTEN NM_000314.7(PTEN): c.55G> A (p.Asp19Asn) single nucleotide variant Pathogenic rs121909233 10:89624281-89624281 10:87864524-87864524
34 PTEN NM_000314.7(PTEN): c.649G> A (p.Val217Ile) single nucleotide variant Pathogenic rs121909234 10:89717624-89717624 10:87957867-87957867
35 HRAS NM_005343.4(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 11:534288-534288 11:534288-534288
36 NRAS NM_002524.5(NRAS): c.183A> T (p.Gln61His) single nucleotide variant Pathogenic rs121913255 1:115256528-115256528 1:114713907-114713907
37 BRAF NM_004333.6(BRAF): c.1390G> A (p.Gly464Arg) single nucleotide variant Pathogenic rs121913349 7:140481418-140481418 7:140781618-140781618
38 NRAS NM_002524.5(NRAS): c.182_183delinsTG (p.Gln61Leu) indel Pathogenic rs1057519695 1:115256528-115256529 1:114713907-114713908
39 NRAS NM_002524.5(NRAS): c.182_183delinsGG (p.Gln61Arg) indel Pathogenic rs1057519695 1:115256528-115256529 1:114713907-114713908
40 NRAS NM_002524.5(NRAS): c.181C> G (p.Gln61Glu) single nucleotide variant Pathogenic rs121913254 1:115256530-115256530 1:114713909-114713909
41 BRAF NM_004333.6(BRAF): c.1789_1790delinsTC (p.Leu597Ser) indel Pathogenic rs121913368 7:140453145-140453146 7:140753345-140753346
42 NRAS NM_002524.5(NRAS): c.38G> C (p.Gly13Ala) single nucleotide variant Pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
43 KIT NM_000222.2(KIT): c.1510T> C (p.Phe504Leu) single nucleotide variant Pathogenic rs1057519702 4:55592186-55592186 4:54726020-54726020
44 KIT NM_000222.2(KIT): c.1650A> C (p.Lys550Asn) single nucleotide variant Pathogenic rs1057519703 4:55593584-55593584 4:54727418-54727418
45 KIT NM_000222.2(KIT): c.1650A> T (p.Lys550Asn) single nucleotide variant Pathogenic rs1057519703 4:55593584-55593584 4:54727418-54727418
46 KIT NM_000222.2(KIT): c.1657T> A (p.Tyr553Asn) single nucleotide variant Pathogenic rs1057519704 4:55593591-55593591 4:54727425-54727425
47 KIT NM_000222.2(KIT): c.1674G> C (p.Lys558Asn) single nucleotide variant Pathogenic rs200375589 4:55593608-55593608 4:54727442-54727442
48 KIT NM_000222.2(KIT): c.1696A> G (p.Asn566Asp) single nucleotide variant Pathogenic rs1057519705 4:55593630-55593630 4:54727464-54727464
49 KIT NM_000222.2(KIT): c.1706T> G (p.Val569Gly) single nucleotide variant Pathogenic rs1057519706 4:55593640-55593640 4:54727474-54727474
50 KIT NM_000222.2(KIT): c.1679T> C (p.Val560Ala) single nucleotide variant Pathogenic rs121913521 4:55593613-55593613 4:54727447-54727447

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

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
14.28 STK11 PTEN PIK3CA NRAS MC1R MAP2K1
2
Show member pathways
13.97 PTEN POT1 NRAS MAP2K1 KIT HRAS
3
Show member pathways
13.97 STK11 PTEN NRAS MAP2K1 KIT HRAS
4
Show member pathways
13.6 PIK3CA NRAS MAP2K1 KIT HRAS CTNNB1
5
Show member pathways
13.51 PTEN PIK3CA NRAS MAP2K1 HRAS GNA11
6
Show member pathways
13.31 PTEN NRAS MAP2K1 HRAS GNAQ GNA11
7
Show member pathways
13.18 PTEN NRAS MAP2K1 KIT HRAS GNA11
8
Show member pathways
13.15 STK11 NRAS MAP2K1 KIT HRAS GNA11
9
Show member pathways
13.15 NRAS MAP2K1 HRAS GNA11 CTNNB1 CDKN2A
10
Show member pathways
13.13 PIK3CA NRAS MAP2K1 HRAS GNAQ GNA11
11
Show member pathways
13.13 NRAS MAP2K1 HRAS GNAQ GNA11 CTNNB1
12
Show member pathways
13.08 PTEN PIK3CA NRAS MAP2K1 HRAS GNAQ
13
Show member pathways
13.08 STK11 PTEN PIK3CA NRAS MAP2K1 KIT
14
Show member pathways
13.05 PTEN NRAS MAP2K1 HRAS CTNNB1 CDK4
15
Show member pathways
13.05 PIK3CA NRAS MAP2K1 KIT HRAS GNAQ
16
Show member pathways
13.03 PTEN PIK3CA NRAS MAP2K1 HRAS CTNNB1
17
Show member pathways
13.02 PTEN PIK3CA NRAS MAP2K1 HRAS GNAQ
18
Show member pathways
13.01 PTEN PIK3CA NRAS MAP2K1 HRAS BRAF
19
Show member pathways
13 PIK3CA NRAS MAP2K1 HRAS GNA11 BRAF
20
Show member pathways
13 PTEN PIK3CA NRAS MAP2K1 HRAS GNA11
21
Show member pathways
12.94 STK11 PIK3CA NRAS MAP2K1 HRAS GNA11
22
Show member pathways
12.93 NRAS MAP2K1 HRAS GNA11 CTNNB1 BRAF
23
Show member pathways
12.89 PIK3CA NRAS MAP2K1 HRAS CDKN2A
24
Show member pathways
12.87 PTEN PIK3CA MAP2K1 HRAS BRAF
25 12.86 NRAS MAP2K1 KIT HRAS BRAF
26
Show member pathways
12.84 PTEN PIK3CA NRAS MAP2K1 HRAS CTNNB1
27
Show member pathways
12.82 PTEN PIK3CA NRAS KIT HRAS
28
Show member pathways
12.82 PIK3CA NRAS MAP2K1 KIT HRAS GNAQ
29
Show member pathways
12.8 PTEN PIK3CA NRAS MAP2K1 HRAS CDKN2A
30
Show member pathways
12.77 NRAS MAP2K1 HRAS GNA11 BRAF
31
Show member pathways
12.75 PTEN PIK3CA NRAS MAP2K1 HRAS GNAQ
32 12.73 PIK3CA NRAS MAP2K1 HRAS BRAF
33
Show member pathways
12.71 PIK3CA MAP2K1 HRAS GNAQ GNA11
34
Show member pathways
12.71 PIK3CA NRAS MAP2K1 HRAS BRAF
35
Show member pathways
12.7 PTEN PIK3CA NRAS MAP2K1 HRAS
36
Show member pathways
12.7 PTEN PIK3CA NRAS MAP2K1 KIT HRAS
37
Show member pathways
12.69 PIK3CA NRAS MAP2K1 HRAS CDK4
38 12.67 PTEN PIK3CA NRAS MAP2K1 HRAS CDKN2A
39
Show member pathways
12.63 PIK3CA NRAS MAP2K1 HRAS BRAF
40
Show member pathways
12.61 STK11 PTEN PIK3CA NRAS MAP2K1 HRAS
41
Show member pathways
12.6 PTEN PIK3CA NRAS MAP2K1 HRAS
42
Show member pathways
12.57 PIK3CA NRAS MAP2K1 HRAS CTNNB1
43
Show member pathways
12.53 PIK3CA NRAS MAP2K1 KIT HRAS
44
Show member pathways
12.53 PIK3CA MAP2K1 HRAS CTNNB1 BRAF
45
Show member pathways
12.53 PIK3CA NRAS MAP2K1 KIT HRAS CTNNB1
46
Show member pathways
12.53 PTEN PIK3CA NRAS MAP2K1 HRAS BRAF
47
Show member pathways
12.52 PTEN PIK3CA NRAS MAP2K1 KIT HRAS
48
Show member pathways
12.51 PIK3CA NRAS MAP2K1 HRAS
49
Show member pathways
12.5 NRAS MAP2K1 HRAS BRAF
50 12.5 PIK3CA NRAS HRAS CTNNB1 CDKN2A CDK4

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 TERF2IP POT1
2 shelterin complex GO:0070187 8.62 TERF2IP POT1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.93 MAP2K1 HRAS CTNNB1 CDKN2B-AS1
2 heart development GO:0007507 9.91 PTEN MAP2K1 GNA11 CTNNB1
3 regulation of cell proliferation GO:0042127 9.84 KIT CTNNB1 CDK4 BRAF
4 activation of protein kinase activity GO:0032147 9.82 STK11 PIK3CA MAP2K1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.8 TERF2IP PIK3CA BRAF
6 cell cycle arrest GO:0007050 9.78 STK11 MAP2K1 HRAS CDKN2A
7 canonical Wnt signaling pathway GO:0060070 9.77 STK11 PTEN CTNNB1
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 PTEN MAP2K1 KIT HRAS BRAF
9 Ras protein signal transduction GO:0007265 9.76 NRAS HRAS CDKN2A
10 T cell receptor signaling pathway GO:0050852 9.73 STK11 PIK3CA HRAS BRAF
11 negative regulation of cell proliferation GO:0008285 9.73 STK11 PTEN MAP2K1 HRAS CTNNB1 CDKN2A
12 thymus development GO:0048538 9.69 MAP2K1 CTNNB1 BRAF
13 positive regulation of phospholipase C activity GO:0010863 9.64 KIT HRAS
14 developmental pigmentation GO:0048066 9.63 KIT GNA11
15 positive regulation of axonogenesis GO:0050772 9.63 STK11 MAP2K1 BRAF
16 anoikis GO:0043276 9.62 STK11 PIK3CA
17 somatic stem cell division GO:0048103 9.61 KIT CDKN2A
18 phototransduction, visible light GO:0007603 9.59 GNAQ GNA11
19 entrainment of circadian clock GO:0009649 9.58 GNAQ GNA11
20 vasculature development GO:0001944 9.58 STK11 PIK3CA CTNNB1
21 trachea formation GO:0060440 9.56 MAP2K1 CTNNB1
22 myeloid progenitor cell differentiation GO:0002318 9.55 KIT BRAF
23 MAPK cascade GO:0000165 9.55 NRAS MAP2K1 KIT HRAS BRAF
24 cellular senescence GO:0090398 9.5 MAP2K1 HRAS CDKN2A
25 positive regulation of gene expression GO:0010628 9.23 PTEN MAP2K1 KIT HRAS CTNNB1 CDKN2B-AS1
26 regulation of axon regeneration GO:0048679 9.13 PTEN MAP2K1 BRAF
27 signal transduction GO:0007165 10.15 NRAS MC1R MAP2K1 KIT HRAS GNAQ
28 positive regulation of cell proliferation GO:0008284 10.04 PTEN KIT HRAS CTNNB1 CDK4
29 phosphorylation GO:0016310 10.04 STK11 PIK3CA MAP2K1 KIT CDK4 BRAF
30 protein phosphorylation GO:0006468 10 STK11 PIK3CA MAP2K1 KIT CDK4 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 9.77 STK11 MAP2K1 KIT CDK4 BRAF
2 protein serine/threonine kinase activity GO:0004674 9.65 STK11 PIK3CA MAP2K1 CDK4 BRAF
3 kinase activity GO:0016301 9.63 STK11 PIK3CA MAP2K1 KIT CDK4 BRAF
4 G-rich strand telomeric DNA binding GO:0098505 9.32 TERF2IP POT1
5 nucleotide binding GO:0000166 9.1 NRAS MAP2K1 KIT HRAS CDK4 BRAF
6 type 2A serotonin receptor binding GO:0031826 8.96 GNAQ GNA11

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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