MCID: MLN008
MIFTS: 74

Melanoma

Categories: Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Melanoma

MalaCards integrated aliases for Melanoma:

Name: Melanoma 11 42 28 53 5 41 43 14 36 63 38 16 71 75
Malignant Melanoma 11 42
Cutaneous Melanoma 42 71
Malignant Melanomas 14
Naevocarcinoma 11

Classifications:



External Ids:

Disease Ontology 11 DOID:1909
MeSH 43 D008545
NCIt 49 C3224
SNOMED-CT 68 2092003
UMLS 71 C0025202 C0151779

Summaries for Melanoma

MedlinePlus Genetics: 42 Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

MalaCards based summary: Melanoma, also known as malignant melanoma, is related to skin melanoma and melanoma, uveal, and has symptoms including pruritus and exanthema. An important gene associated with Melanoma is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Triamcinolone and Vindesine have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and t cells, and related phenotypes are normal and pigmentation

MedlinePlus: 41 Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or "ugly looking." Thinking of "ABCDE" can help you remember what to watch for: Asymmetry - the shape of one half does not match the other Border - the edges are ragged, blurred or irregular Color - the color is uneven and may include shades of black, brown and tan Diameter - there is a change in size, usually an increase Evolving - the mole has changed over the past few weeks or months Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

PubMed Health : 63 Melanoma: We all have moles or other small lumps and bumps that are a different color to the rest of our skin. This is perfectly normal and usually nothing to worry about. It is only rarely skin cancer. Skin cancer comes in different forms. The main types are (malignant) melanoma, basal cell cancer (BCC) and squamous cell cancer (SCC). Basal cell cancer and squamous cell cancer are sometimes grouped together and referred to as non-melanoma skin cancer. Melanoma, which often looks like a very dark mole, is the most widely known type of skin cancer. This is probably because some types are dangerous and can spread very quickly throughout the body.

Novus Biologicals: 54 Melanoma is a malignant tumor that results from uncontrolled growth of pigmented cells, called melanocytes. Several types of melanoma exist, including superficial spreading melanoma, nodular melanoma and lentigo melanoma. Melanoma diagnosis is traditionally supported by the presence of the S-100 protein marker and HMB-45, however research has determined the sensitivity and specificity of three novel antibodies as markers for melanoma: Mitf, Melan-A and tyrosinase.

Disease Ontology: 11 A cell type cancer that has material basis in abnormally proliferating cells derives from melanocytes which are found in skin, the bowel and the eye.

Wikipedia: 75 Melanoma, also redundantly known as malignant melanoma, is a type of skin cancer that develops from the... more...

Related Diseases for Melanoma

Diseases in the Melanoma family:

Hereditary Melanoma

Diseases related to Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2406)
# Related Disease Score Top Affiliating Genes
1 skin melanoma 34.5 PTEN NRAS MAP2K1 KIT GNAQ GNA11
2 melanoma, uveal 34.4 PTEN NRAS MIRLET7B MIR193B MAP2K1 KIT
3 melanoma, cutaneous malignant 1 34.4 PTEN NRAS MAP2K1 KIT GNAQ GNA11
4 ocular melanoma 34.0 NRAS KIT GNAQ GNA11 CDKN2A
5 acral lentiginous melanoma 34.0 NRAS KIT GNAQ GNA11 CDKN2A BRAF
6 nodular malignant melanoma 34.0 PTEN NRAS MIR23B KIT GNAQ GNA11
7 mucosal melanoma 34.0 PTEN NRAS MAP2K1 KIT GNAQ GNA11
8 skin carcinoma 33.8 PTEN NRAS KIT CTNNB1 CDKN2A
9 malignant spindle cell melanoma 33.6 NRAS KIT GNAQ GNA11 CDKN2A
10 melanoma in congenital melanocytic nevus 33.6 PTEN NRAS KIT GNAQ CDKN2A BRAF
11 malignant conjunctival melanoma 33.5 NRAS KIT GNAQ GNA11
12 spitzoid melanoma 33.2 NRAS GNAQ GNA11 CDKN2A
13 large congenital melanocytic nevus 33.1 NRAS GNAQ GNA11 CDKN2A
14 vulvar melanoma 33.1 NRAS KIT GNAQ GNA11
15 posterior uveal melanoma 33.0 MIR182 GNAQ GNA11
16 meningeal melanoma 32.9 NRAS GNAQ GNA11
17 malignant choroid melanoma 32.9 GNAQ GNA11
18 malignant skin fibrous histiocytoma 32.9 NRAS KIT GNA11
19 spinal cord melanoma 32.9 NRAS GNAQ GNA11
20 malignant anus melanoma 32.9 NRAS KIT
21 mixed cell uveal melanoma 32.9 GNAQ GNA11
22 squamous cell carcinoma, head and neck 32.7 PTEN MIR222 MIR221 MIR205 MIR193B MAP2K1
23 ocular cancer 32.6 MIR34A MIR221 GNAQ GNA11 CDKN2A
24 epithelioid cell melanoma 32.6 GNAQ GNA11
25 nevus, epidermal 32.6 PTEN NRAS GNAQ GNA11
26 renal cell carcinoma, nonpapillary 32.5 PTEN NRAS MIR532 MIR34A MIR23B MIR222
27 lung cancer 32.5 PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
28 squamous cell carcinoma 32.4 PTEN NRAS MIR205 CTNNB1 CDKN2A BRAF
29 uveal disease 32.4 NRAS MIRLET7B GNAQ GNA11
30 breast cancer 32.4 PTEN NRAS MIR34A MIR222 MIR221 MIR205
31 cervix melanoma 32.3 NRAS KIT
32 skin squamous cell carcinoma 32.3 PTEN NRAS MAP2K1 CTNNB1 CDKN2A BRAF
33 neuroblastoma 32.2 PTEN NRAS MIRLET7B MIR34A MIR23B MIR221
34 skin disease 32.2 PTEN NRAS MIR34A MIR23B MIR221 KIT
35 colorectal cancer 32.2 PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
36 pancreatic cancer 32.2 PTEN MIR34A MIR23B MIR222 MIR221 MIR205
37 hemangioma 32.1 PTEN MAP2K1 KIT GNAQ GNA11 CTNNB1
38 gastrointestinal stromal tumor 32.1 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
39 glioblastoma 32.1 PTEN NRAS MIR34A MIR23B MIR222 MIR221
40 leukemia, chronic lymphocytic 32.1 PTEN NRAS MIR532 MIR34A MIR23B MIR221
41 neurofibromatosis 32.1 PTEN NRAS KIT CDKN2A BRAF
42 hypomelanosis of ito 32.0 GNAQ GNA11
43 adenocarcinoma 32.0 PTEN MAP2K1 CTNNB1 CDKN2A BRAF
44 bladder cancer 32.0 PTEN NRAS MIR23B MIR222 MIR221 MIR205
45 ovarian cancer 32.0 PTEN MIR34A MIR222 MIR221 MIR205 MAP2K1
46 brain cancer 31.9 PTEN NRAS MIR34A MIR222 MIR221 MIR182
47 neurofibromatosis, type i 31.9 PTEN NRAS MAP2K1 KIT CDKN2A
48 leukemia, acute myeloid 31.8 PTEN NRAS MIRLET7B MIR532 MIR34A MIR23B
49 teratoma 31.8 PTEN KIT CTNNB1 CDKN2A
50 lung cancer susceptibility 3 31.8 NRAS MIR205 MIR182 MAP2K1 CTNNB1 CDKN2A

Graphical network of the top 20 diseases related to Melanoma:



Diseases related to Melanoma

Symptoms & Phenotypes for Melanoma

UMLS symptoms related to Melanoma:


pruritus; exanthema

MGI Mouse Phenotypes related to Melanoma:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.25 BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
2 pigmentation MP:0001186 10.19 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
3 neoplasm MP:0002006 10.18 BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR182
4 endocrine/exocrine gland MP:0005379 10.15 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
5 no phenotypic analysis MP:0003012 10.1 CDKN2A CTNNB1 FBN1 KIT MIR205 MIR23B
6 renal/urinary system MP:0005367 10.08 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
7 muscle MP:0005369 10.06 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
8 limbs/digits/tail MP:0005371 10.03 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
9 digestive/alimentary MP:0005381 9.92 BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR205
10 hearing/vestibular/ear MP:0005377 9.88 BRAF CTNNB1 GNA11 GNAQ KIT MAP2K1
11 craniofacial MP:0005382 9.86 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
12 respiratory system MP:0005388 9.81 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
13 skeleton MP:0005390 9.7 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
14 integument MP:0010771 9.44 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ

Drugs & Therapeutics for Melanoma

PubMed Health treatment related to Melanoma: 63

After melanoma is diagnosed, the first step is usually to try to remove it surgically. If it is already advanced or metastatic tumors have developed elsewhere, surgery is combined with other treatments such as medication or radiation.

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

(show top 50) (show all 549)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Vindesine Approved, Investigational Phase 4 59917-39-4, 53643-48-4 40839
3
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
4
Etanercept Approved, Investigational Phase 4 185243-69-0
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
8
Desflurane Approved Phase 4 57041-67-5 42113
9
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
10
Somatostatin Approved, Investigational Phase 4 38916-34-6, 51110-01-1 53481605 16129706
11
Cabergoline Approved Phase 4 81409-90-7 54746
12
Lactitol Approved, Investigational Phase 4 585-86-4 157355
13
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
14
Pasireotide Approved Phase 4 396091-73-9 56841596 9941444
15
Triamcinolone hexacetonide Phase 4
16
Triamcinolone diacetate Phase 4
17
Triamcinolone Acetonide Phase 4 6436
18 Platelet Aggregation Inhibitors Phase 4
19 Fibrin Tissue Adhesive Phase 4
20 Hemostatics Phase 4
21 Coagulants Phase 4
22 Anesthetics, Inhalation Phase 4
23 Dopamine agonists Phase 4
24 Dopamine Agents Phase 4
25 Antiparkinson Agents Phase 4
26
Propranolol Approved, Investigational Phase 2, Phase 3 318-98-9, 525-66-6 62882 4946
27
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
28
Timolol Approved Phase 3 26839-75-8 5478 33624
29
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239
30
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
31
Ranibizumab Approved Phase 3 347396-82-1
32
Lenalidomide Approved Phase 2, Phase 3 191732-72-6 216326
33
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4
34
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
35
Tannic acid Approved Phase 2, Phase 3 1401-55-4 16129878 16129778
36
Memantine Approved, Investigational Phase 3 41100-52-1, 19982-08-2 4054
37
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
38
Aflibercept Approved Phase 3 862111-32-8 124490314
39
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
40
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
41
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
42
Dacarbazine Approved, Investigational Phase 3 4342-03-4 2942 5351166
43
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
44
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
45
Peginterferon alfa-2b Approved Phase 2, Phase 3 215647-85-1, 99210-65-8
46
BCG vaccine Approved, Investigational Phase 3
47
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 3 133585-56-5, 60-18-4, 556-02-5 1153 6057
48
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
49
Imidacloprid Vet_approved Phase 3 105827-78-9 86418
50
Linrodostat Investigational Phase 3 1923833-60-6 121328278

Interventional clinical trials:

(show top 50) (show all 2888)
# Name Status NCT ID Phase Drugs
1 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Unknown status NCT02626065 Phase 4 Nivolumab
2 Elderly Cancer PatIents Treated for Advanced or Metastatic Melanoma or NSCLC, Safety and qualiTy of Life Under immunOtheraPies: a Phase IV Trial Unknown status NCT03673332 Phase 4 immune-checkpoint inhibitors therapies
3 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
4 An Exploratory Prospective, Open-label, Unicentric Study With Cross-over Design, Comparing Lymphoseek® vs. Albumin Nanocolloid for Image- Guided Sentinel Lymph Node Mapping in Head and Neck, Melanoma and Breast Cancer. Unknown status NCT04261179 Phase 4 Lymphoseek;Nanocoll
5 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
6 Standard Palliative Care Versus Standard Palliative Care Plus Polychemotherapy (CVD-Protocol) in the Second-Line Therapy of Distant Metastasized Malignant Melanoma Unknown status NCT00226473 Phase 4 Cisplatin, Vindesine, Dacarbazine (drugs)
7 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1) Unknown status NCT03313544 Phase 4 Nivolumab
8 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
9 Photodynamic Therapy for Melanoma Precursor Lesion Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion (BF-200 ALA) as a Light Sensitizing Cream Completed NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
10 Open-label Pharmacokinetic Trial of Aldesleukin (Rh-Interleukin-2 [IL-2]) Administered Intravenously to Subjects With Metastatic Renal Cell Carcinoma or Metastatic Melanoma With Immunologic Correlative Studies Completed NCT00414765 Phase 4 Aldesleukin
11 An Open-Label, Single-Arm, Multicenter Study To Assess The Safety Of Vemurafenib In Patients With Braf V600 Mutation Positive Metastatic Melanoma In South Africa. Completed NCT01898585 Phase 4 Zelboraf
12 A Randomized, Open-Label Study to Compare the Rate of New Non-Melanoma Skin Cancer in Maintenance Renal Allograft Recipients Converted to a Sirolimus-based Regimen Versus Continuation of a Calcineurin Inhibitor-based Regimen Completed NCT00129961 Phase 4 sirolimus;cyclosporine or tacrolimus
13 Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma Completed NCT02451488 Phase 4 GM-CSF
14 Volatile Anaesthesia and Perioperative Outcomes Related to Cancer (VAPOR-C): A Feasibility Study Completed NCT04074460 Phase 4 Propofol;isoflurane, sevoflurane or desflurane
15 Can Fibrin Sealant be Used to Reduce Post-operative Drainage Following Lymph Node Dissection: a Prospective Randomised Double Blind Trial. Completed NCT00324272 Phase 4 Fibrin Sealant (Tisseel) used in the Experimental Arm.
16 Open Label, Multi-center Roll-over Study to Assess Long Term Safety in Patients Who Have Completed a Global Novartis or GSK Sponsored Dabrafenib and/or Trametinib Study Recruiting NCT03340506 Phase 4 dabrafenib;trametinib
17 Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma Active, not recruiting NCT02068196 Phase 4 Ipilimumab
18 An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment Active, not recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline
19 A Prospective, Open-label, Phase 4 Study to Evaluate the Safety of Pembrolizumab (KEYTRUDA®) in Subjects With Unresectable or Metastatic Melanoma or PD-L1 Positive Non-small Cell Lung Cancer (NSCLC) in India (Keynote-593) Active, not recruiting NCT03715205 Phase 4 Pembrolizumab
20 Influenza Vaccine Responses in the Setting of Melanoma Treatment Active, not recruiting NCT03315975 Phase 4
21 Sentinel Lymph Node Detection in Patients With Stage Ib-III Melanoma Using MultiSpectral Optoacoustic Tomography (MSOT) and IndoCyanine Green (ICG) Not yet recruiting NCT05467137 Phase 4
22 Open-Label, Randomized, Multi-Center Study Comparing the Sequence of High Dose Aldesleukin (Interleukin-2) and Ipilimumab (Yervoy) in Patients With Metastatic Melanoma Terminated NCT01856023 Phase 4 High Dose Interleukin-2;Ipilimumab
23 A Multi-Center Study of High Dose Aldesleukin (Interleukin-2) + Vemurafenib Therapy in Patients With BRAFV600 Mutation Positive Metastatic Melanoma Terminated NCT01683188 Phase 4 vemurafenib + HD IL-2
24 A Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Plus BCG Versus Placebo Plus BCG as a Post-Surgical Treatment for Stage IV Melanoma Unknown status NCT00052156 Phase 3
25 Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With BCG Plus a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Versus BCG Plus a Placebo as a Post-Surgical Treatment for Stage III Melanoma Unknown status NCT00052130 Phase 3
26 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. Unknown status NCT01502696 Phase 3
27 A Randomized, Controlled, Multi-center, Phase Ⅲ Clinical Study to Investigate Recombinant Humanized Anti-PD-1 Monoclonal Antibody Injection Toripalimab (JS001) Versus Dacarbazine as the First Line Therapy for Unresectable or Metastatic Melanoma Unknown status NCT03430297 Phase 3 Dacarbazine 1000mg/m2 Q3W
28 Allogeneic Vaccine Modified to Express HLA A2/4-1BB Ligand for High Risk or Low Residual Disease Melanoma Patients Unknown status NCT01861938 Phase 2, Phase 3
29 Melablock: A Multicentre Randomized, Double---blinded and Placebo---controlled Clinical Trial on the Efficacy and Safety of Once Daily Propranolol 80 mg Retard for the Prevention of Cutaneous Malignant Melanoma Recurrence Unknown status NCT02962947 Phase 2, Phase 3 Propranolol;Placebo
30 Prospectively Randomized Phase III Study of an Individualized Sensitivity-Directed Combination Chemotherapy Versus DTIC as First-Line Treatment in Stage IV Metastatic Melanoma Unknown status NCT00779714 Phase 3 DTIC (dacarbazine);paclitaxel + cisplatin;treosulfan + cytarabine
31 Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma. Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
32 Comparison of M-Vax Plus Low Dose Interleukin-2 Versus Placebo Vaccine Plus Low Dose Interleukin-2 in Patients With Stage IV Melanoma Unknown status NCT00477906 Phase 3
33 PEG-Intron Observation After Regional Lymph Node Dissection in AJCC Stage III (TxN1-2MO) Melanoma Patients: a Randomized Phase III Trial Unknown status NCT00006249 Phase 3
34 A Randomized, Phase III Study of Fotemustine Versus the Combination of Fotemustine and Ipilimumab or the Combination of Ipilimumab and Nivolumab in Patients With Metastatic Melanoma With Brain Metastasis Unknown status NCT02460068 Phase 3 Fotemustine;Fotemustine and Ipilimumab;Ipilimumab and nivolumab
35 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
36 POST-OPERATIVE ADJUVANT INTERFERON-ALFA-2B (INTRON-A) TREATMENT AFTER RESECTION OF THICK PRIMARY MELANOMA AND/OR REGIONAL LYMPHNODE METASTASES 'INTERMEDIATE-HIGH DOSE' VS INTERMEDIATE-LOW DOSE' IFN-ALFA VS OBSERVATION: A 3-ARM MULTICENTER RANDOMIZED PHASE III TRIAL Unknown status NCT00002763 Phase 3
37 A Phase III, Multi-Center Controlled Trial With Stratified Randomization Comparing The Efficacy Of Interleukin-2 (IL-2) Plus Histamine Dihydrochloride (HDC) Versus IL-2 Alone To Increase The Duration Of Survival In Patients With AJCC Stage IV Malignant Melanoma With Hepatic Metastasis Unknown status NCT00039234 Phase 3 histamine dihydrochloride
38 Randomized, Multicenter Study for Adjuvant Treatment of Stage III Malignant Melanoma: Intermittent, High-Dose Intravenous Interferon Alpha-2b Versus Standard High-Dose Interferon Alpha-2b Therapy Unknown status NCT00226408 Phase 3 Interferon-alpha-2b
39 Collaborative Ocular Melanoma Study (COMS) Unknown status NCT00000124 Phase 3
40 PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA Unknown status NCT00002767 Phase 3
41 A Multicenter, Randomized, Controlled, Phase III Trial Comparing High-Dose IFN-a2b With Temozolomide Plus Cisplatin as Systemic Adjuvant Therapy for Resected Mucosal Melanoma Unknown status NCT03435302 Phase 3 Temozolomide Plus Cisplatin;High-Dose IFN-a2b
42 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
43 Immunotherapy of Colon Cancer With Autologous Perchloric Soluble Tumors Extracts Unknown status NCT00002455 Phase 3
44 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3 Timolol + LCP
45 A Randomized, Placebo-Controlled Phase III Trial of Yeast Derived GM-CSF Versus Peptide Vaccination Versus GM-CSF Plus Peptide Vaccination Versus Placebo in Patients With "No Evidence of Disease" After Complete Surgical Resection of "Locally Advanced" and/or Stage IV Melanoma Completed NCT01989572 Phase 3
46 A Double-Blind, Randomized, Placebo-Controlled Phase III Trial of Carboplatin, Paclitaxel and Sorafenib Versus Carboplatin, Paclitaxel and Placebo in Patients With Unresectable Locally Advanced or Stage IV Melanoma Completed NCT00110019 Phase 3 Carboplatin;Paclitaxel;Sorafenib Tosylate
47 A Phase III Multi-Institutional Randomized Study of Immunization With the gp100: 209-217 (210M) Peptide Followed by High Dose IL-2 vs. High Dose IL-2 Alone in Patients With Metastatic Melanoma Completed NCT00019682 Phase 3 Montanide ISA 51 VG
48 A Randomized, Double-Blind, Multicenter Study Comparing MDX-010 Monotherapy, MDX-010 in Combination With a Melanoma Peptide Vaccine, and Melanoma Vaccine Monotherapy in HLA-A2*0201-Positive Patients With Previously Treated Unresectable Stage III or IV Melanoma Completed NCT00094653 Phase 3 MDX-010 (anti-CTLA4) monoclonal antibody
49 Phase III Randomized Study of Dacarbazine With or Without Allovectin-7 in Patients With Metastatic Melanoma Completed NCT00003647 Phase 3 allovectin-7;allovectin-7/dacarbazine;dacarbazine
50 Adjuvant Immunotherapy With Anti-CTLA-4 Monoclonal Antibody (Ipilimumab) Versus Placebo After Complete Resection of High Risk Stage III Melanoma: A Randomized, Double-blind Phase 3 Trial of the EORTC Melanoma Group Completed NCT00636168 Phase 3 ipilimumab;Placebo

Search NIH Clinical Center for Melanoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Aldesleukin
Carmustine
dabrafenib
Dacarbazine
docetaxel
hydroxyurea
Interferon Alfa-2a
Interferon Alfa-2b
INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED
interferon alfacon-1
Interferon gamma-1b
Interferons
Lomustine
peginterferon alfa-2a
peginterferon alfa-2b
pembrolizumab
Procarbazine
Procarbazine Hydrochloride
Recombinant interferon beta-1a
Recombinant interferon beta-1b
temozolomide
trametinib
Vemurafenib

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Melanoma cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Melanoma:
Tumor infiltrating lymphocytes (TILs) for solid tumors
Embryonic/Adult Cultured Cells Related to Melanoma:
Tumor infiltrating lymphocytes PMIDs: 24329789 19342963 21498393 22996367 19304471 22555974 15800326 23650429 21325070 8170938 12242449 24218514 23904171

Cochrane evidence based reviews: melanoma

Genetic Tests for Melanoma

Genetic tests related to Melanoma:

# Genetic test Affiliating Genes
1 Melanoma 28

Anatomical Context for Melanoma

Organs/tissues related to Melanoma:

MalaCards : Skin, Lymph Node, T Cells, Brain, Lung, Eye, Breast

Publications for Melanoma

Articles related to Melanoma:

(show top 50) (show all 55509)
# Title Authors PMID Year
1
PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells. 53 62 5
20149136 2010
2
Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature. 53 62 5
19996579 2010
3
Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. 53 62 5
19718025 2009
4
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 53 62 5
19671763 2009
5
CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations. 53 62 5
18794803 2009
6
KIT gene mutations and copy number in melanoma subtypes. 53 62 5
18980976 2008
7
MC1R variants, melanoma and red hair color phenotype: a meta-analysis. 53 62 5
18366057 2008
8
BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. 53 62 5
18375819 2008
9
Somatic activation of KIT in distinct subtypes of melanoma. 53 62 5
16908931 2006
10
Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 53 62 5
16741525 2006
11
Distinct sets of genetic alterations in melanoma. 53 62 5
16291983 2005
12
Analysis of BRAF mutation in primary and metastatic melanoma. 53 62 5
16096377 2005
13
Genetic and epigenetic alterations of the APC gene in malignant melanoma. 53 62 5
15133491 2004
14
BRAF mutations in metastatic melanoma: a possible association with clinical outcome. 53 62 5
12960123 2003
15
Exclusion of BRAFV599E as a melanoma susceptibility mutation. 53 62 5
12794760 2003
16
BRAF and RAS mutations in human lung cancer and melanoma. 53 62 5
12460918 2002
17
Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 53 62 5
11950921 2002
18
Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 53 62 5
11351304 2001
19
Identification of PTEN mutations in metastatic melanoma specimens. 53 62 5
10978354 2000
20
Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 53 62 5
10027390 1999
21
Stabilization of beta-catenin by genetic defects in melanoma cell lines. 53 62 5
9065403 1997
22
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 62 5
26650189 2016
23
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 62 5
26775776 2016
24
Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 62 5
26678033 2016
25
MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. 62 5
26103569 2015
26
Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. 62 5
25407435 2015
27
BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma. 62 5
24710085 2015
28
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 62 5
25803691 2015
29
Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. 62 5
24918823 2014
30
The GIST of targeted therapy for malignant melanoma. 62 5
24531699 2014
31
Malignant Melanoma with Concurrent BRAF E586K and NRAS Q81K Mutations. 62 5
24926260 2014
32
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 62 5
24406078 2014
33
Prognostic value of BRAF mutations in localized cutaneous melanoma. 62 5
24388723 2014
34
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 62 5
24576830 2014
35
Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 62 5
24583796 2014
36
Novel ATP-competitive MEK inhibitor E6201 is effective against vemurafenib-resistant melanoma harboring the MEK1-C121S mutation in a preclinical model. 62 5
24448821 2014
37
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 62 5
24670642 2014
38
Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 62 5
24508103 2014
39
The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. 62 5
24265153 2014
40
A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 62 5
24265152 2014
41
Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 62 5
24265155 2014
42
MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. 62 5
24265154 2014
43
BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 62 5
24586605 2014
44
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 62 5
23774529 2014
45
The impact of MITF on melanoma development: news from bench and bedside. 62 5
24352080 2014
46
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 62 5
23787126 2013
47
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. 62 5
23647022 2013
48
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 62 5
23918947 2013
49
Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 62 5
23715574 2013
50
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 62 5
23582185 2013

Variations for Melanoma

ClinVar genetic disease variations for Melanoma:

5 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP2K1 NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) SNV Pathogenic
375982 rs1057519733 GRCh37: 15:66774131-66774131
GRCh38: 15:66481793-66481793
2 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic
40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
3 KIT NM_000222.3(KIT):c.1676T>A (p.Val559Asp) SNV Pathogenic
13856 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
4 KIT NM_000222.3(KIT):c.1965T>A (p.Asn655Lys) SNV Pathogenic
375923 rs1057519708 GRCh37: 4:55594262-55594262
GRCh38: 4:54728096-54728096
5 KIT NM_000222.3(KIT):c.1676T>G (p.Val559Gly) SNV Pathogenic
375912 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
6 NRAS NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) SNV Pathogenic
375877 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
7 KIT NM_000222.3(KIT):c.1669T>A (p.Trp557Arg) SNV Pathogenic
375908 rs121913235 GRCh37: 4:55593603-55593603
GRCh38: 4:54727437-54727437
8 KIT NM_000222.3(KIT):c.1679T>A (p.Val560Asp) SNV Pathogenic
375914 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
9 KIT NM_000222.3(KIT):c.1679T>G (p.Val560Gly) SNV Pathogenic
375916 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
10 KIT NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) SNV Pathogenic
375933 rs1057519713 GRCh37: 4:55602664-55602664
GRCh38: 4:54736498-54736498
11 BRAF NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) INDEL Pathogenic
375941 rs121913227 GRCh37: 7:140453136-140453137
GRCh38: 7:140753336-140753337
12 CTNNB1 NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) SNV Pathogenic
375895 rs121913409 GRCh37: 3:41266137-41266137
GRCh38: 3:41224646-41224646
13 BRAF NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) INDEL Pathogenic
375939 rs121913377 GRCh37: 7:140453135-140453136
GRCh38: 7:140753335-140753336
14 KIT NM_000222.3(KIT):c.1650A>T (p.Lys550Asn) SNV Pathogenic
375906 rs1057519703 GRCh37: 4:55593584-55593584
GRCh38: 4:54727418-54727418
15 GNAQ NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) SNV Pathogenic
375957 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
16 GNA11 NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) SNV Pathogenic
376002 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
17 NRAS NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) INDEL Pathogenic
375873 rs1057519695 GRCh37: 1:115256528-115256529
GRCh38: 1:114713907-114713908
18 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Pathogenic
376001 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
19 BRAF NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) SNV Pathogenic
13972 rs121913338 GRCh37: 7:140453154-140453154
GRCh38: 7:140753354-140753354
20 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Pathogenic
375955 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
21 NRAS NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) SNV Pathogenic
375875 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
22 BRAF NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) INDEL Pathogenic
375948 rs1057519718 GRCh37: 7:140453155-140453156
GRCh38: 7:140753355-140753356
23 KIT NM_000222.3(KIT):c.1961T>C (p.Val654Ala) SNV Pathogenic
375921 rs121913523 GRCh37: 4:55594258-55594258
GRCh38: 4:54728092-54728092
24 KIT NM_000222.3(KIT):c.2458G>C (p.Asp820His) SNV Pathogenic
375927 rs1057519710 GRCh37: 4:55599332-55599332
GRCh38: 4:54733166-54733166
25 KIT NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) SNV Pathogenic
375924 rs1057519708 GRCh37: 4:55594262-55594262
GRCh38: 4:54728096-54728096
26 BRAF NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) SNV Pathogenic
375944 rs121913337 GRCh37: 7:140453153-140453153
GRCh38: 7:140753353-140753353
27 KIT NM_000222.3(KIT):c.2446G>C (p.Asp816His) SNV Pathogenic
13863 rs121913506 GRCh37: 4:55599320-55599320
GRCh38: 4:54733154-54733154
28 KIT NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) SNV Pathogenic
375932 rs121913514 GRCh37: 4:55599340-55599340
GRCh38: 4:54733174-54733174
29 BRAF NM_004333.6(BRAF):c.1798G>A (p.Val600Met) SNV Pathogenic
44815 rs121913378 GRCh37: 7:140453137-140453137
GRCh38: 7:140753337-140753337
30 KIT NM_000222.3(KIT):c.1510T>C (p.Phe504Leu) SNV Pathogenic
375904 rs1057519702 GRCh37: 4:55592186-55592186
GRCh38: 4:54726020-54726020
31 MAP2K1 NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) SNV Pathogenic
375983 rs1057519734 GRCh37: 15:66777424-66777424
GRCh38: 15:66485086-66485086
32 BRAF NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) SNV Pathogenic
76687 rs121913366 GRCh37: 7:140453145-140453145
GRCh38: 7:140753345-140753345
33 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) SNV Pathogenic
280409 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
34 KIT NM_000222.3(KIT):c.1679T>C (p.Val560Ala) SNV Pathogenic
375915 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
35 MAP2K1 NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) SNV Pathogenic
375981 rs1057519732 GRCh37: 15:66729162-66729162
GRCh38: 15:66436824-66436824
36 MAP2K1 NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) SNV Pathogenic
375979 rs1057519730 GRCh37: 15:66729124-66729124
GRCh38: 15:66436786-66436786
37 KIT NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn) SNV Pathogenic
375907 rs1057519704 GRCh37: 4:55593591-55593591
GRCh38: 4:54727425-54727425
38 BRAF NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) SNV Pathogenic
375946 rs121913338 GRCh37: 7:140453154-140453154
GRCh38: 7:140753354-140753354
39 KIT NM_000222.3(KIT):c.1696A>G (p.Asn566Asp) SNV Pathogenic
375917 rs1057519705 GRCh37: 4:55593630-55593630
GRCh38: 4:54727464-54727464
40 BRAF NM_004333.6(BRAF):c.1780G>C (p.Asp594His) SNV Pathogenic
375947 rs397516896 GRCh37: 7:140453155-140453155
GRCh38: 7:140753355-140753355
41 MAP2K1 NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) SNV Pathogenic
375977 rs1057519728 GRCh37: 15:66727441-66727441
GRCh38: 15:66435103-66435103
42 CTNNB1 NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) SNV Pathogenic
17588 rs121913409 GRCh37: 3:41266137-41266137
GRCh38: 3:41224646-41224646
43 NRAS NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) SNV Pathogenic
375874 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
44 KIT NM_000222.3(KIT):c.1674G>T (p.Lys558Asn) SNV Pathogenic
375911 rs200375589 GRCh37: 4:55593608-55593608
GRCh38: 4:54727442-54727442
45 KIT NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) SNV Pathogenic
375931 rs121913514 GRCh37: 4:55599340-55599340
GRCh38: 4:54733174-54733174
46 KIT NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) SNV Pathogenic
375930 rs993022333 GRCh37: 4:55599339-55599339
GRCh38: 4:54733173-54733173
47 KIT NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) SNV Pathogenic
375928 rs1057519710 GRCh37: 4:55599332-55599332
GRCh38: 4:54733166-54733166
48 KIT NM_000222.3(KIT):c.1964A>G (p.Asn655Ser) SNV Pathogenic
375922 rs1057519707 GRCh37: 4:55594261-55594261
GRCh38: 4:54728095-54728095
49 BRAF NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) SNV Pathogenic
375945 rs121913337 GRCh37: 7:140453153-140453153
GRCh38: 7:140753353-140753353
50 BRAF NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) SNV Pathogenic
13968 rs121913366 GRCh37: 7:140453145-140453145
GRCh38: 7:140753345-140753345

Cosmic variations for Melanoma:

8 (show top 50) (show all 1725)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88595561 PREX2 skin,back,malignant melanoma,superficial spreading c.4165G>A p.E1389K 8:68146286-68146286 11
2 COSM88574860 PREX2 skin,back,malignant melanoma,superficial spreading c.2531G>A p.G844D 8:68097179-68097179 11
3 COSM93672521 NF1 skin,back,malignant melanoma,nodular c.3028C>T p.Q1010* 17:31230297-31230297 11
4 COSM93525440 NF1 skin,back,malignant melanoma,nodular c.3028C>T p.Q1010* 17:31230297-31230297 11
5 COSM91859752 KRAS skin,back,malignant melanoma,superficial spreading c.35G>T p.G12V 12:25245350-25245350 11
6 COSM134990158 KRAS skin,back,malignant melanoma,superficial spreading c.35G>T p.G12V 12:25245350-25245350 11
7 COSM150563774 BRAF skin,back,malignant melanoma,superficial spreading c.1799T>A p.V600E 7:140753336-140753336 11
8 COSM88834639 BRAF skin,back,malignant melanoma,superficial spreading c.1910T>G p.L637R 7:140753345-140753345 11
9 COSM149460904 BRAF skin,back,malignant melanoma,nodular c.1904T>C p.F635S 7:140753351-140753351 11
10 COSM118886840 BRAF skin,back,malignant melanoma,superficial spreading c.1814G>A p.S605N 7:140753321-140753321 11
11 COSM150585368 BRAF skin,back,malignant melanoma,superficial spreading c.1790T>G p.L597R 7:140753345-140753345 11
12 COSM150623748 BRAF skin,back,malignant melanoma,nodular c.1784T>C p.F595S 7:140753351-140753351 11
13 COSM118818356 BRAF skin,back,malignant melanoma,superficial spreading c.1817G>A p.G606E 7:140753318-140753318 11
14 COSM149491596 BRAF skin,back,malignant melanoma,superficial spreading c.1934G>A p.S645N 7:140753321-140753321 11
15 COSM150645318 BRAF skin,back,malignant melanoma,superficial spreading c.1814G>A p.S605N 7:140753321-140753321 11
16 COSM149420177 BRAF skin,back,malignant melanoma,superficial spreading c.1937G>A p.G646E 7:140753318-140753318 11
17 COSM142567400 TP53 skin,back,malignant melanoma,NS c.716C>T p.P239L 17:7673787-7673787 10
18 COSM121885235 TP53 skin,back,malignant melanoma,NS c.437C>T p.P146L 17:7673787-7673787 10
19 COSM106060507 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
20 COSM144020824 TP53 skin,back,malignant melanoma,NS c.800C>T p.P267L 17:7673787-7673787 10
21 COSM144316210 TP53 skin,back,malignant melanoma,NS c.716C>T p.P239L 17:7673787-7673787 10
22 COSM122741114 TP53 skin,back,malignant melanoma,NS c.437C>T p.P146L 17:7673787-7673787 10
23 COSM145025441 TP53 skin,back,malignant melanoma,NS c.716C>T p.P239L 17:7673787-7673787 10
24 COSM142842830 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
25 COSM105628150 TP53 skin,back,malignant melanoma,NS c.782+394C>T p.? 17:7673787-7673787 10
26 COSM93191448 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
27 COSM143163088 TP53 skin,back,malignant melanoma,NS c.356C>T p.P119L 17:7673787-7673787 10
28 COSM87906968 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
29 COSM111766659 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
30 COSM144092456 TP53 skin,back,malignant melanoma,NS c.356C>T p.P119L 17:7673787-7673787 10
31 COSM112260509 TP53 skin,back,malignant melanoma,NS c.833C>T p.P278L 17:7673787-7673787 10
32 COSM144659648 TP53 skin,back,malignant melanoma,NS c.716C>T p.P239L 17:7673787-7673787 10
33 COSM122278834 TP53 skin,back,malignant melanoma,NS c.437C>T p.P146L 17:7673787-7673787 10
34 COSM143950269 TP53 skin,back,malignant melanoma,NS c.356C>T p.P119L 17:7673787-7673787 10
35 COSM143378660 TP53 skin,back,malignant melanoma,NS c.716C>T p.P239L 17:7673787-7673787 10
36 COSM127268277 RUNX1T1 skin,back,malignant melanoma,NS c.317C>T p.S106F 8:92014730-92014730 10
37 COSM102697463 RUNX1T1 skin,back,malignant melanoma,NS c.236C>T p.S79F 8:92014730-92014730 10
38 COSM107534814 RUNX1T1 skin,back,malignant melanoma,NS c.206C>T p.S69F 8:92014730-92014730 10
39 COSM107750873 RUNX1T1 skin,back,malignant melanoma,NS c.494C>T p.S165F 8:92014730-92014730 10
40 COSM126081831 RUNX1T1 skin,back,malignant melanoma,NS c.206C>T p.S69F 8:92014730-92014730 10
41 COSM142877786 RUNX1T1 skin,back,malignant melanoma,NS c.257C>T p.S86F 8:92014730-92014730 10
42 COSM144452106 RUNX1T1 skin,back,malignant melanoma,NS c.317C>T p.S106F 8:92014730-92014730 10
43 COSM145062022 RUNX1T1 skin,back,malignant melanoma,NS c.317C>T p.S106F 8:92014730-92014730 10
44 COSM127444375 RUNX1T1 skin,back,malignant melanoma,NS c.236C>T p.S79F 8:92014730-92014730 10
45 COSM127799331 RUNX1T1 skin,back,malignant melanoma,NS c.350C>T p.S117F 8:92014730-92014730 10
46 COSM85777096 RUNX1T1 skin,back,malignant melanoma,NS c.317C>T p.S106F 8:92014730-92014730 10
47 COSM142258385 RUNX1T1 skin,back,malignant melanoma,NS c.317C>T p.S106F 8:92014730-92014730 10
48 COSM96031395 RUNX1T1 skin,back,malignant melanoma,NS c.206C>T p.S69F 8:92014730-92014730 10
49 COSM143432869 RUNX1T1 skin,back,malignant melanoma,NS c.236C>T p.S79F 8:92014730-92014730 10
50 COSM88245406 RPTOR skin,back,malignant melanoma,NS c.484G>A p.G162R 17:80707976-80707976 10

Copy number variations for Melanoma from CNVD:

6 (show top 50) (show all 1973)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13791 1 1 46500000 Insertion Melanoma
2 13897 1 1007060 1041599 Amplification C1orf159 Melanoma
3 14968 1 111600000 148000000 Deletion Melanoma
4 15008 1 111800000 116100000 Gain NRAS Melanoma
5 15387 1 115048600 115061038 Gain NRAS Melanoma
6 18715 1 147200000 149200000 Ampfication SETDB1 Melanoma
7 20086 1 15300000 247249719 Insertion Melanoma
8 21281 7 92072170 92303813 Gain CDK6 Malignant melanoma
9 24543 1 182188599 196365692 Amplification ASPM Melanoma
10 24544 1 182188599 196365692 Amplification ATP6V1G3 Melanoma
11 24545 1 182188599 196365692 Amplification B3GALT2 Melanoma
12 24546 1 182188599 196365692 Amplification ODR4 Melanoma
13 24547 1 182188599 196365692 Amplification C1orf53 Melanoma
14 24548 1 182188599 196365692 Amplification ERVMER61-1 Melanoma
15 24549 1 182188599 196365692 Amplification CDC73 Melanoma
16 24550 1 182188599 196365692 Amplification CFH Melanoma
17 24551 1 182188599 196365692 Amplification CFHR1 Melanoma
18 24552 1 182188599 196365692 Amplification CFHR2 Melanoma
19 24553 1 182188599 196365692 Amplification CFHR3 Melanoma
20 24554 1 182188599 196365692 Amplification CFHR4 Melanoma
21 24555 1 182188599 196365692 Amplification CFHR5 Melanoma
22 24556 1 182188599 196365692 Amplification CRB1 Melanoma
23 24557 1 182188599 196365692 Amplification DENND1B Melanoma
24 24558 1 182188599 196365692 Amplification F13B Melanoma
25 24559 1 182188599 196365692 Amplification BRINP3 Melanoma
26 24560 1 182188599 196365692 Amplification GLRX2 Melanoma
27 24561 1 182188599 196365692 Amplification HMCN1 Melanoma
28 24562 1 182188599 196365692 Amplification KCNT2 Melanoma
29 24563 1 182188599 196365692 Amplification LHX9 Melanoma
30 24564 1 182188599 196365692 Amplification NEK7 Melanoma
31 24565 1 182188599 196365692 Amplification Melanoma
32 24566 1 182188599 196365692 Amplification PDC Melanoma
33 24567 1 182188599 196365692 Amplification PLA2G4A Melanoma
34 24568 1 182188599 196365692 Amplification PRG4 Melanoma
35 24569 1 182188599 196365692 Amplification PTGS2 Melanoma
36 24570 1 182188599 196365692 Amplification PTPRC Melanoma
37 24571 1 182188599 196365692 Amplification RGS1 Melanoma
38 24572 1 182188599 196365692 Amplification RGS13 Melanoma
39 24573 1 182188599 196365692 Amplification RGS18 Melanoma
40 24574 1 182188599 196365692 Amplification RGS2 Melanoma
41 24575 1 182188599 196365692 Amplification RGS21 Melanoma
42 24576 1 182188599 196365692 Amplification TPR Melanoma
43 24577 1 182188599 196365692 Amplification RO60 Melanoma
44 24578 1 182188599 196365692 Amplification UCHL5 Melanoma
45 24579 1 182188599 196365692 Amplification ZBTB41 Melanoma
46 26238 1 198304656 198310281 Deletion Melanoma
47 29172 1 228366540 228914590 LOH Melanoma
48 29295 1 2300000 46500000 Insertion Melanoma
49 29296 1 2300000 46500000 Insertion Melanoma
50 30306 1 241700000 247249719 Insertion Melanoma

Expression for Melanoma

Search GEO for disease gene expression data for Melanoma.

Pathways for Melanoma



Pathways directly related to Melanoma:

# Pathway Source
1 Defective pyroptosis Reactome 66

Pathways related to Melanoma according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 BRAF CDKN2A CTNNB1 FBN1 GNA11 KIT
2 13.73 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
3
Show member pathways
13.41 BRAF CDKN2A CTNNB1 GNA11 GNAQ MAP2K1
4
Show member pathways
13.37 BRAF CTNNB1 FBN1 GNA11 MAP2K1 NRAS
5
Show member pathways
12.96 PTEN NRAS MAP2K1 KIT GNA11 FBN1
6
Show member pathways
12.89 PTEN NRAS MAP2K1 CTNNB1 BRAF
7
Show member pathways
12.85 NRAS MAP2K1 GNA11 CTNNB1 BRAF
8
Show member pathways
12.82 PTEN NRAS MAP2K1 GNA11 BRAF
9
Show member pathways
12.8 NRAS MAP2K1 GNAQ CTNNB1 BRAF
10 12.79 NRAS MAP2K1 KIT CTNNB1 BRAF
11
Show member pathways
12.71 NRAS MAP2K1 KIT GNAQ GNA11 BRAF
12 12.63 PTEN MAP2K1 KIT CTNNB1 CDKN2A
13
Show member pathways
12.59 NRAS MAP2K1 GNA11 CDKN2A BRAF
14
Show member pathways
12.45 NRAS MAP2K1 CTNNB1 BRAF
15
Show member pathways
12.41 PTEN MAP2K1 CTNNB1 BRAF
16
Show member pathways
12.34 NRAS MAP2K1 KIT CTNNB1 BRAF
17
Show member pathways
12.28 BRAF CTNNB1 KIT MAP2K1 NRAS PTEN
18
Show member pathways
12.27 MAP2K1 GNAQ GNA11 CTNNB1
19 12.23 PTEN MAP2K1 CTNNB1 BRAF
20
Show member pathways
12.18 PTEN NRAS MAP2K1 BRAF
21
Show member pathways
12.16 MAP2K1 GNAQ GNA11 CTNNB1
22
Show member pathways
12.12 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
23
Show member pathways
12.06 NRAS MAP2K1 GNA11 BRAF
24 12 BRAF MAP2K1 NRAS PTEN
25
Show member pathways
11.96 PTEN MAP2K1 CDKN2A BRAF
26
Show member pathways
11.9 NRAS MAP2K1 BRAF
27 11.9 NRAS MAP2K1 GNAQ BRAF
28 11.88 PTEN NRAS CTNNB1
29 11.86 PTEN MAP2K1 CDKN2A BRAF
30
Show member pathways
11.81 MAP2K1 GNAQ GNA11 CTNNB1 BRAF
31 11.75 NRAS KIT CDKN2A
32
Show member pathways
11.71 BRAF KIT MAP2K1 NRAS
33 11.67 PTEN CTNNB1 CDKN2A
34 11.67 NRAS MAP2K1 GNAQ GNA11 BRAF
35 11.66 PTEN NRAS CTNNB1 CDKN2A
36 11.61 MAP2K1 CTNNB1 BRAF
37 11.6 MAP2K1 KIT GNAQ CTNNB1 CDKN2A
38 11.58 MIRLET7B MIR23B MIR222 MIR221
39 11.57 MAP2K1 GNAQ BRAF
40
Show member pathways
11.52 NRAS MAP2K1 GNAQ BRAF
41
Show member pathways
11.48 PTEN NRAS MAP2K1 BRAF
42 11.41 NRAS MAP2K1 BRAF
43 11.35 NRAS MAP2K1 BRAF
44 11.29 NRAS GNAQ GNA11
45 11.16 NRAS MAP2K1 CDKN2A BRAF
46 10.98 MAP2K1 GNAQ GNA11 CTNNB1 BRAF
47 10.72 MAP2K1 BRAF
48 10.55 KIT BRAF

GO Terms for Melanoma

Cellular components related to Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 9.02 MIRLET7B MIR34A MIR23B MIR222 MIR221

Biological processes related to Melanoma according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 10.16 BRAF CTNNB1 MAP2K1 NRAS
2 heart development GO:0007507 10.16 PTEN MAP2K1 GNA11 FBN1 CTNNB1
3 thymus development GO:0048538 10.04 MAP2K1 CTNNB1 BRAF
4 negative regulation of angiogenesis GO:0016525 9.92 MIR34A MIR222 MIR205 CTNNB1
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 PTEN MIRLET7B MIR222 MIR221 MAP2K1 BRAF
6 trachea formation GO:0060440 9.9 MAP2K1 CTNNB1
7 positive regulation of gene expression GO:0010628 9.9 BRAF CDKN2A CTNNB1 KIT MAP2K1 MIR182
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.89 MIR222 MIR221 CTNNB1
9 entrainment of circadian clock GO:0009649 9.88 GNAQ GNA11
10 myeloid progenitor cell differentiation GO:0002318 9.88 KIT BRAF
11 negative regulation of vascular associated smooth muscle cell proliferation GO:1904706 9.85 PTEN MIR34A MIR182
12 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.67 MIR222 MIR221 MIR205 MIR182
13 positive regulation of axon regeneration GO:0048680 9.62 MIR222 MIR221 BRAF
14 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.54 MIR222 MIR221
15 miRNA-mediated gene silencing GO:0035195 9.53 MIRLET7B MIR532 MIR34A MIR23B MIR222 MIR221
16 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.49 MIR222 MIR221
17 negative regulation of interleukin-21 production GO:0032705 9.48 MIR222 MIR221
18 positive regulation of Schwann cell migration GO:1900149 9.46 MIR221 MIR222
19 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.43 MIR221 MIR222
20 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.4 MIR222 MIR221
21 regulation of axon regeneration GO:0048679 9.26 PTEN MAP2K1 BRAF

Molecular functions related to Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 9.17 MIRLET7B MIR34A MIR222 MIR221 MIR205 MIR193B

Sources for Melanoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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