MCID: MLN008
MIFTS: 76

Melanoma

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

Aliases & Classifications for Melanoma

MalaCards integrated aliases for Melanoma:

Name: Melanoma 12 43 36 29 54 6 42 44 15 37 62 39 17 71
Malignant Melanoma 12 43
Cutaneous Melanoma 43 71
Malignant Melanomas 15
Naevocarcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1909
KEGG 36 H00038
MeSH 44 D008545
NCIt 50 C3224
SNOMED-CT 67 2092003
UMLS 71 C0025202 C0151779

Summaries for Melanoma

MedlinePlus Genetics : 43 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 CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are Melanoma and ERK Signaling. The drugs Triamcinolone and Vindesine have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and brain, and related phenotypes are endocrine/exocrine gland and integument

Disease Ontology : 12 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.

MedlinePlus : 42 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

KEGG : 36 Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and in people with fair skin the risk is greatly increased. Melanoma pathogenesis is also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-ERK and PI3K-Akt. The Raf-MEK-ERK pathway may also be activated via mutations in the BRAF gene. The PI3K-Akt pathway may be activated through loss or mutation of the inhibitory tumor suppressor gene PTEN. These mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Melanoma development has been shown to be strongly associated with inactivation of the p16INK4a/cyclin dependent kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression.

Novus Biologicals : 55 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.

PubMed Health : 62 About 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.

Wikipedia : 74 Melanoma, also 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 1973)
# 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 34.3 PTEN NRAS MAP2K1 KIT GNAQ GNA11
4 skin carcinoma 34.2 PTEN NRAS MIR34A MAP2K1 KIT GNAQ
5 acral lentiginous melanoma 34.0 PTEN NRAS KIT CDKN2A BRAF
6 ocular melanoma 34.0 NRAS KIT GNAQ GNA11 CDKN2A
7 nodular malignant melanoma 33.9 NRAS MIR23B KIT GNAQ GNA11 CDKN2A
8 mucosal melanoma 33.8 NRAS KIT GNAQ GNA11 CDKN2A BRAF
9 malignant spindle cell melanoma 33.6 NRAS KIT GNAQ GNA11 CDKN2A
10 melanoma in congenital melanocytic nevus 33.3 NRAS KIT GNAQ CDKN2A BRAF
11 spitzoid melanoma 33.3 NRAS GNAQ GNA11 CDKN2A BRAF
12 malignant conjunctival melanoma 33.3 NRAS GNAQ GNA11
13 vulvar melanoma 33.1 NRAS KIT GNAQ GNA11
14 malignant anus melanoma 33.1 NRAS KIT GNA11
15 malignant skin fibrous histiocytoma 33.1 NRAS KIT GNAQ GNA11
16 meningeal melanoma 33.0 NRAS GNAQ GNA11
17 large congenital melanocytic nevus 32.9 NRAS GNAQ GNA11
18 squamous cell carcinoma 32.9 PTEN MIR205 MAP2K1 CTNNB1 CDKN2A BRAF
19 squamous cell carcinoma, head and neck 32.8 PTEN MIR221 MIR205 MAP2K1 CXCL8 CTNNB1
20 basal cell carcinoma 32.7 PTEN KIT CXCL8 CTNNB1 CDKN2A
21 ovarian melanoma 32.6 NRAS MAP2K1
22 spitz nevus 32.5 CDKN2A BRAF
23 ocular cancer 32.5 MIRLET7B GNAQ GNA11 CDKN2A
24 nevus, epidermal 32.4 PTEN NRAS GNAQ
25 lung cancer 32.3 PTEN NRAS MIRLET7B MIR34A MIR222 MIR221
26 neuroblastoma 32.3 PTEN NRAS MIRLET7B MIR34A MIR23B MIR221
27 sarcoma 32.3 NRAS KIT CXCL8 CTNNB1 BRAF
28 renal cell carcinoma, nonpapillary 32.2 PTEN NRAS MIR532 MIR34A MIR23B MIR221
29 adenocarcinoma 32.2 PTEN MAP2K1 KIT CTNNB1 CDKN2A BRAF
30 pancreatic cancer 32.1 PTEN MIR34A MIR23B MIR222 MIR221 MIR205
31 glioblastoma 32.0 PTEN NRAS MIR34A MIR23B MIR222 MIR221
32 hemangioma 32.0 PTEN KIT GNAQ GNA11 CTNNB1
33 merkel cell carcinoma 31.9 KIT CTNNB1 CDKN2A
34 breast cancer 31.9 PTEN MIR34A MIR222 MIR221 MIR205 MIR193B
35 teratoma 31.9 PTEN KIT CTNNB1 CDKN2A
36 myeloma, multiple 31.9 PTEN NRAS MIRLET7B KIT CXCL8 CTNNB1
37 kidney cancer 31.9 PTEN MIR532 MIR182 CXCL8 CDKN2A
38 ovarian cancer 31.8 PTEN MIR532 MIR34A MIR222 MIR221 MIR205
39 bladder cancer 31.8 PTEN NRAS MIR34A MIR23B MIR222 MIR221
40 glioma 31.8 PTEN MIR34A MIR222 MIR221 CDKN2A BRAF
41 leukemia, acute myeloid 31.8 PTEN NRAS MIRLET7B MIR34A MIR23B MIR222
42 gastric cancer 31.8 PTEN NRAS MIR34A MIR222 MIR221 MAP2K1
43 lung cancer susceptibility 3 31.8 NRAS MIR205 MIR182 MAP2K1 CTNNB1 CDKN2A
44 neurofibroma 31.8 PTEN KIT CDKN2A
45 rhabdomyosarcoma 31.8 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
46 cystic teratoma 31.8 PTEN KIT CDKN2A
47 peripheral nervous system disease 31.7 PTEN MIR34A KIT CXCL8 CTNNB1 CDKN2A
48 prostate cancer 31.7 PTEN MIRLET7B MIR34A MIR23B MIR222 MIR221
49 endometrial cancer 31.7 PTEN NRAS MIR34A KIT CTNNB1 CDKN2A
50 leukemia, chronic lymphocytic 31.7 PTEN NRAS MIR532 MIR34A MIR23B MIR221

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
2 integument MP:0010771 10.1 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
3 craniofacial MP:0005382 10.06 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
4 limbs/digits/tail MP:0005371 9.97 BRAF CTNNB1 FBN1 GNA11 GNAQ KIT
5 muscle MP:0005369 9.92 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
6 pigmentation MP:0001186 9.81 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
7 neoplasm MP:0002006 9.8 BRAF CDKN2A CTNNB1 KIT MAP2K1 NRAS
8 respiratory system MP:0005388 9.56 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ
9 skeleton MP:0005390 9.32 BRAF CDKN2A CTNNB1 FBN1 GNA11 GNAQ

Drugs & Therapeutics for Melanoma

PubMed Health treatment related to Melanoma: 62

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 537)
# 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 53643-48-4, 59917-39-4 40839
3
Etanercept Approved, Investigational Phase 4 185243-69-0
4
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Pasireotide Approved Phase 4 396091-73-9 9941444
7
Lactitol Approved, Investigational Phase 4 585-86-4 157355
8
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
9
Cabergoline Approved Phase 4 81409-90-7 54746
10 Triamcinolone hexacetonide Phase 4
11 triamcinolone acetonide Phase 4
12 Triamcinolone diacetate Phase 4
13 Cyclosporins Phase 4
14 Calcineurin Inhibitors Phase 4
15 Neurotransmitter Agents Phase 4
16 Dopamine Agents Phase 4
17 Hormones Phase 4
18 Hormone Antagonists Phase 4
19 Dopamine agonists Phase 4
20 Antiparkinson Agents Phase 4
21
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
22
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
23
Timolol Approved Phase 3 26839-75-8 33624 5478
24
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
25
Ranibizumab Approved Phase 3 347396-82-1 459903
26
Aminolevulinic acid Approved Phase 3 106-60-5 137
27
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
28
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
29
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
30
leucovorin Approved Phase 3 58-05-9 6006
31
Bevacizumab Approved, Investigational Phase 3 216974-75-3
32
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
33
BCG vaccine Approved, Investigational Phase 3
34
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
35
Peginterferon alfa-2b Approved Phase 2, Phase 3 215647-85-1, 99210-65-8
36
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
37
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
38
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
39
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
40
Imidacloprid Vet_approved Phase 3 105827-78-9 86418
41
Fotemustine Investigational Phase 3 92118-27-9
42
Oblimersen Experimental, Investigational Phase 2, Phase 3 190977-41-4
43 polysaccharide-K Phase 3
44 Detox adjuvant Phase 3
45 Photosensitizing Agents Phase 3
46 Methyl 5-aminolevulinate Phase 3
47 Olive Phase 3
48 Pharmaceutical Solutions Phase 2, Phase 3
49 Adrenergic beta-Antagonists Phase 2, Phase 3
50 Adrenergic Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 2401)
# Name Status NCT ID Phase Drugs
1 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)
2 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Unknown status NCT02626065 Phase 4 Nivolumab
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 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
5 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
6 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
7 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.
8 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
9 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
10 Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma Completed NCT02451488 Phase 4 GM-CSF
11 Elderly Cancer PatIents Treated for Advanced or Metastatic Melanoma or NSCLC, Safety and qualiTy of Life Under immunOtheraPies: a Phase IV Trial Recruiting NCT03673332 Phase 4 immune-checkpoint inhibitors therapies
12 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) Recruiting NCT03715205 Phase 4 Pembrolizumab
13 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
14 Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma Active, not recruiting NCT02068196 Phase 4 Ipilimumab
15 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;Pasireotide
16 Influenza Vaccine Responses in the Setting of Melanoma Treatment Enrolling by invitation NCT03315975 Phase 4
17 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. Not yet recruiting NCT04261179 Phase 4 Lymphoseek;Nanocoll
18 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1) Not yet recruiting NCT03313544 Phase 4 Nivolumab
19 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
20 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
21 Phase II GENIUS Trial of GENetically-Informed Therapies for Patients With previoUSly Treated Refractory Metastatic Cancer Withdrawn NCT02000739 Phase 4
22 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
23 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
24 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
25 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
26 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
27 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
28 A Pivotal Phase III, Open-label, Randomized, Controlled Multi-center Study of the Efficacy of L19IL2/L19TNF Neoadjuvant Intratumoral Treatment Followed by Surgery Versus Surgery Alone in Clinical Stage III B/C Melanoma Patients Unknown status NCT02938299 Phase 3 L19IL2 + L19TNF
29 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
30 PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA Unknown status NCT00002767 Phase 3
31 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
32 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
33 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
34 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
35 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
36 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
37 Collaborative Ocular Melanoma Study (COMS) Unknown status NCT00000124 Phase 3
38 Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Unknown status NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
39 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
40 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
41 Treatment of Port Wine Stains in Children With Pulsed Dye Laser and Timolol Gel Unknown status NCT01272609 Phase 3 Timolol + LCP
42 Immunotherapy of Colon Cancer With Autologous Perchloric Soluble Tumors Extracts Unknown status NCT00002455 Phase 3
43 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
44 A Phase III, Double-Blind, Placebo-Controlled Study of Vemurafenib Versus Vemurafenib Plus GDC-0973 in Previously Untreated BRAF^600-Mutation Positive Patients With Unresectable Locally Advanced or Metastatic Melanoma Completed NCT01689519 Phase 3 Placebo;Vemurafenib;Cobimetinib
45 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
46 TIL (Tumor Infiltrating Lymphocytes) and IL2 (Interleukin 2) Versus Abstention as Adjuvant Treatment in Melanoma With Only One Invaded Lymphnode After Lymphnodes Excision Completed NCT00200577 Phase 3 TIL + IL2
47 A Phase III Randomized, Open-label Study Comparing GSK2118436 to Dacarbazine (DTIC) in Previously Untreated Subjects With BRAF Mutation Positive Advanced (Stage III) or Metastatic (Stage IV) Melanoma Completed NCT01227889 Phase 3 GSK2118436;Dacarbazine (DTIC)
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 A Phase 3, Prospective, Open-Label, Multicenter Comparison Study of Lymphoseek® and Vital Blue Dye as Lymphoid Tissue Targeting Agents in Patients With Known Melanoma or Breast Cancer Who Are Undergoing Lymph Node Mapping Completed NCT00671918 Phase 3 Lymphoseek
50 An Open-Label, Multicenter Study to Assess the Safety of RO5185426 (Vemurafenib) in Patients With Metastatic Melanoma Completed NCT01307397 Phase 3 Vemurafenib

Search NIH Clinical Center for Melanoma

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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 29

Anatomical Context for Melanoma

MalaCards organs/tissues related to Melanoma:

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

Publications for Melanoma

Articles related to Melanoma:

(show top 50) (show all 54841)
# Title Authors PMID Year
1
Exclusion of BRAFV599E as a melanoma susceptibility mutation. 61 54 6
12794760 2003
2
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 61 6
24670642 2014
3
MicroRNA-dependent regulation of cKit in cutaneous melanoma. 61 47 54
19126397 2009
4
MicroRNA let-7b targets important cell cycle molecules in malignant melanoma cells and interferes with anchorage-independent growth. 54 47 61
18379589 2008
5
BRAF mutations in metastatic melanoma: a possible association with clinical outcome. 54 6
12960123 2003
6
Mutations of the BRAF gene in human cancer. 61 6
12068308 2002
7
Identification of PTEN mutations in metastatic melanoma specimens. 6 54
10978354 2000
8
The Rapid Rise in Cutaneous Melanoma Diagnoses. 42 61
33406334 2021
9
Circulating tumour DNA and melanoma survival: A systematic literature review and meta-analysis. 42 61
33276181 2021
10
PD-L1 blockade in combination with inhibition of MAPK oncogenic signaling in patients with advanced melanoma. 42 61
33288749 2020
11
Codon-specific translation reprogramming promotes resistance to targeted therapy. 6
29925953 2018
12
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 6
28854169 2017
13
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 6
25079330 2014
14
Copper is required for oncogenic BRAF signalling and tumorigenesis. 6
24717435 2014
15
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 6
24512911 2014
16
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence. 6
23685455 2013
17
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 6
23302800 2013
18
Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 6
22281684 2012
19
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). 6
22113612 2011
20
COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 6
21107320 2010
21
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. 6
21107323 2010
22
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. 6
20823850 2010
23
Inhibition of mutated, activated BRAF in metastatic melanoma. 6
20818844 2010
24
MicroRNA expression profiles associated with mutational status and survival in malignant melanoma. 61 47
20357817 2010
25
MicroRNA-15b represents an independent prognostic parameter and is correlated with tumor cell proliferation and apoptosis in malignant melanoma. 47 61
19830692 2010
26
MicroRNA-193b represses cell proliferation and regulates cyclin D1 in melanoma. 47 54
20304954 2010
27
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. 6
18398503 2008
28
Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. 6
17785355 2007
29
BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. 6
17488796 2007
30
BRAF V600E maintains proliferation, transformation, and tumorigenicity of BRAF-mutant papillary thyroid cancer cells. 6
17374713 2007
31
Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. 6
16772349 2006
32
BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. 6
16174717 2005
33
High prevalence and possible de novo formation of BRAF mutation in metastasized papillary thyroid cancer in lymph nodes. 6
15998781 2005
34
BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. 6
16015629 2005
35
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. 6
16187918 2005
36
Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas. 6
15687339 2005
37
Mutations of BRAF and RAS are rare events in germ cell tumours. 6
15386408 2005
38
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. 6
15342696 2004
39
Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas. 6
15356022 2004
40
Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. 6
15181070 2004
41
BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. 6
15126572 2004
42
BRAF T1796A transversion mutation in various thyroid neoplasms. 6
15001635 2004
43
Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers. 6
14513361 2003
44
BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. 6
14602780 2003
45
High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. 6
12670889 2003
46
Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. 6
12644542 2003
47
Absence of exon 15 BRAF germline mutations in familial melanoma. 6
12619120 2003
48
High frequency of BRAF mutations in nevi. 6
12447372 2003
49
Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. 6
12198537 2002
50
A Variant in a MicroRNA complementary site in the 3' UTR of the KIT oncogene increases risk of acral melanoma. 47
21119596 2011

Variations for Melanoma

ClinVar genetic disease variations for Melanoma:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN):c.649G>A (p.Val217Ile) SNV Pathogenic 7838 rs121909234 10:89717624-89717624 10:87957867-87957867
2 MAP2K1 NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys) SNV Pathogenic 375982 rs1057519733 15:66774131-66774131 15:66481793-66481793
3 NRAS NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) SNV Pathogenic 375877 rs121434596 1:115258744-115258744 1:114716123-114716123
4 NRAS NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) SNV Pathogenic 375875 rs121913254 1:115256530-115256530 1:114713909-114713909
5 BRAF NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) Indel Pathogenic 375948 rs1057519718 7:140453155-140453156 7:140753355-140753356
6 MAP2K1 NM_002755.3(MAP2K1):c.790C>T (p.Pro264Ser) SNV Pathogenic 375983 rs1057519734 15:66777424-66777424 15:66485086-66485086
7 NRAS NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) Indel Pathogenic 375873 rs1057519695 1:115256528-115256529 1:114713907-114713908
8 MAP2K1 NM_002755.3(MAP2K1):c.332T>G (p.Ile111Ser) SNV Pathogenic 375979 rs1057519730 15:66729124-66729124 15:66436786-66436786
9 MAP2K1 NM_002755.3(MAP2K1):c.157T>C (p.Phe53Leu) SNV Pathogenic 375977 rs1057519728 15:66727441-66727441 15:66435103-66435103
10 BRAF NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) SNV Pathogenic 375945 rs121913337 7:140453153-140453153 7:140753353-140753353
11 MAP2K1 NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) SNV Pathogenic 375984 rs1057519735 15:66782915-66782915 15:66490577-66490577
12 BRAF NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) Indel Pathogenic 375942 rs121913368 7:140453145-140453146 7:140753345-140753346
13 NRAS NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) Indel Pathogenic 375872 rs1057519695 1:115256528-115256529 1:114713907-114713908
14 BRAF NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) Indel Pathogenic 375941 rs121913227 7:140453136-140453137 7:140753336-140753337
15 BRAF NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) Indel Pathogenic 375939 rs121913377 7:140453135-140453136 7:140753335-140753336
16 BRAF NM_001374258.1(BRAF):c.1918G>A (p.Val640Met) SNV Pathogenic 44815 rs121913378 7:140453137-140453137 7:140753337-140753337
17 BRAF NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) Indel Pathogenic 375940 rs121913227 7:140453136-140453137 7:140753336-140753337
18 PTEN NM_000314.8(PTEN):c.633C>A SNV Pathogenic 7836 rs121909232 10:89712015-89712015 10:87952258-87952258
19 KIT NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) SNV Pathogenic 375923 rs1057519708 4:55594262-55594262 4:54728096-54728096
20 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 39648 rs121913237 1:115258747-115258747 1:114716126-114716126
21 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 1:115258747-115258747 1:114716126-114716126
22 NRAS NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 40471 rs121434595 1:115258745-115258745 1:114716124-114716124
23 KIT NM_000222.2(KIT):c.1676T>A (p.Val559Asp) SNV Pathogenic 13856 rs121913517 4:55593610-55593610 4:54727444-54727444
24 KIT NM_000222.2(KIT):c.1676T>G (p.Val559Gly) SNV Pathogenic 375912 rs121913517 4:55593610-55593610 4:54727444-54727444
25 KIT NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) SNV Pathogenic 375908 rs121913235 4:55593603-55593603 4:54727437-54727437
26 KIT NM_000222.2(KIT):c.1679T>A (p.Val560Asp) SNV Pathogenic 375914 rs121913521 4:55593613-55593613 4:54727447-54727447
27 KIT NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) SNV Pathogenic 375933 rs1057519713 4:55602664-55602664 4:54736498-54736498
28 KIT NM_000222.2(KIT):c.1679T>G (p.Val560Gly) SNV Pathogenic 375916 rs121913521 4:55593613-55593613 4:54727447-54727447
29 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124
30 GNAQ NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) SNV Pathogenic 375957 rs121913492 9:80409488-80409488 9:77794572-77794572
31 GNA11 NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) SNV Pathogenic 376002 rs1057519742 19:3118942-3118942 19:3118944-3118944
32 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Pathogenic 376001 rs1057519742 19:3118942-3118942 19:3118944-3118944
33 KIT NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) SNV Pathogenic 375919 rs121913513 4:55593661-55593661 4:54727495-54727495
34 BRAF NM_001374258.1(BRAF):c.1901A>G (p.Asp634Gly) SNV Pathogenic 13972 rs121913338 7:140453154-140453154 7:140753354-140753354
35 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Pathogenic 375955 rs121913492 9:80409488-80409488 9:77794572-77794572
36 CTNNB1 NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) SNV Pathogenic 375895 rs121913409 3:41266137-41266137 3:41224646-41224646
37 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val) SNV Pathogenic 375876 rs121434596 1:115258744-115258744 1:114716123-114716123
38 KIT NM_000222.2(KIT):c.1650A>T (p.Lys550Asn) SNV Pathogenic 375906 rs1057519703 4:55593584-55593584 4:54727418-54727418
39 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
40 KIT NM_000222.2(KIT):c.1961T>C (p.Val654Ala) SNV Pathogenic 375921 rs121913523 4:55594258-55594258 4:54728092-54728092
41 KIT NM_000222.2(KIT):c.2458G>C (p.Asp820His) SNV Pathogenic 375927 rs1057519710 4:55599332-55599332 4:54733166-54733166
42 KIT NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) SNV Pathogenic 375924 rs1057519708 4:55594262-55594262 4:54728096-54728096
43 BRAF NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) SNV Pathogenic 375944 rs121913337 7:140453153-140453153 7:140753353-140753353
44 KIT NM_000222.3(KIT):c.2446G>C SNV Pathogenic 13863 rs121913506 4:55599320-55599320 4:54733154-54733154
45 KIT NM_000222.3(KIT):c.2466T>G SNV Pathogenic 375932 rs121913514 4:55599340-55599340 4:54733174-54733174
46 BRAF NM_001374258.1(BRAF):c.1910T>A (p.Leu637Gln) SNV Pathogenic 76687 rs121913366 7:140453145-140453145 7:140753345-140753345
47 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) SNV Pathogenic 280409 rs11554290 1:115256529-115256529 1:114713908-114713908
48 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127
49 KIT NM_000222.2(KIT):c.1679T>C (p.Val560Ala) SNV Pathogenic 375915 rs121913521 4:55593613-55593613 4:54727447-54727447
50 KIT NM_000222.2(KIT):c.1510T>C (p.Phe504Leu) SNV Pathogenic 375904 rs1057519702 4:55592186-55592186 4:54726020-54726020

Cosmic variations for Melanoma:

9 (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 COSM96846998 PTEN skin,lower leg,malignant melanoma,superficial spreading c.737C>T p.P246L 10:87957955-87957955 24
2 COSM88585287 PREX2 skin,lower leg,malignant melanoma,superficial spreading c.4646C>T p.A1549V 8:68217657-68217657 24
3 COSM88577133 PREX2 skin,lower leg,malignant melanoma,superficial spreading c.34G>T p.E12* 8:67952428-67952428 24
4 COSM88595561 PREX2 skin,back,malignant melanoma,superficial spreading c.4165G>A p.E1389K 8:68146286-68146286 24
5 COSM88584890 PREX2 skin,lower leg,malignant melanoma,nodular c.2323C>T p.P775S 8:68093677-68093677 24
6 COSM88571924 PREX2 skin,lower leg,malignant melanoma,nodular c.4127C>T p.A1376V 8:68146248-68146248 24
7 COSM88574860 PREX2 skin,back,malignant melanoma,superficial spreading c.2531G>A p.G844D 8:68097179-68097179 24
8 COSM97114616 NRAS skin,lower leg,malignant melanoma,nodular c.181C>G p.Q61E 1:114713909-114713909 24
9 COSM93672521 NF1 skin,back,malignant melanoma,nodular c.3028C>T p.Q1010* 17:31230297-31230297 24
10 COSM93525440 NF1 skin,back,malignant melanoma,nodular c.3028C>T p.Q1010* 17:31230297-31230297 24
11 COSM114526600 MLH1 skin,lower leg,malignant melanoma,nodular c.1009-1G>A p.? 3:37047518-37047518 24
12 COSM130661839 MLH1 skin,lower leg,malignant melanoma,nodular c.1009-1G>A p.? 3:37047518-37047518 24
13 COSM85270786 MLH1 skin,lower leg,malignant melanoma,nodular c.1732-1G>A p.? 3:37047518-37047518 24
14 COSM113092596 MLH1 skin,lower leg,malignant melanoma,nodular c.1009-1G>A p.? 3:37047518-37047518 24
15 COSM130952662 MLH1 skin,lower leg,malignant melanoma,nodular c.1009-1G>A p.? 3:37047518-37047518 24
16 COSM108957066 MLH1 skin,lower leg,malignant melanoma,nodular c.1438-1G>A p.? 3:37047518-37047518 24
17 COSM91859752 KRAS skin,back,malignant melanoma,superficial spreading c.35G>T p.G12V 12:25245350-25245350 24
18 COSM134990158 KRAS skin,back,malignant melanoma,superficial spreading c.35G>T p.G12V 12:25245350-25245350 24
19 COSM150563774 BRAF skin,back,malignant melanoma,superficial spreading c.1799T>A p.V600E 7:140753336-140753336 24
20 COSM149414187 BRAF skin,lower leg,malignant melanoma,superficial spreading c.1869T>C p.F623= 7:140753386-140753386 24
21 COSM88834639 BRAF skin,back,malignant melanoma,superficial spreading c.1910T>G p.L637R 7:140753345-140753345 24
22 COSM149460904 BRAF skin,back,malignant melanoma,nodular c.1904T>C p.F635S 7:140753351-140753351 24
23 COSM118886840 BRAF skin,back,malignant melanoma,superficial spreading c.1814G>A p.S605N 7:140753321-140753321 24
24 COSM150585368 BRAF skin,back,malignant melanoma,superficial spreading c.1790T>G p.L597R 7:140753345-140753345 24
25 COSM150623748 BRAF skin,back,malignant melanoma,nodular c.1784T>C p.F595S 7:140753351-140753351 24
26 COSM118818356 BRAF skin,back,malignant melanoma,superficial spreading c.1817G>A p.G606E 7:140753318-140753318 24
27 COSM149491596 BRAF skin,back,malignant melanoma,superficial spreading c.1934G>A p.S645N 7:140753321-140753321 24
28 COSM150645318 BRAF skin,back,malignant melanoma,superficial spreading c.1814G>A p.S605N 7:140753321-140753321 24
29 COSM149420177 BRAF skin,back,malignant melanoma,superficial spreading c.1937G>A p.G646E 7:140753318-140753318 24
30 COSM122387386 APC skin,lower leg,malignant melanoma,superficial spreading c.4431G>T p.Q1477H 5:112840025-112840025 24
31 COSM88872369 APC skin,lower leg,malignant melanoma,superficial spreading c.4431G>T p.Q1477H 5:112840025-112840025 24
32 COSM87273193 ZFHX3 skin,mucosal,malignant melanoma,NS c.1064C>T p.A355V 16:72959082-72959082 18
33 COSM102022107 ZFHX3 skin,mucosal,malignant melanoma,NS c.-23-8117C>T p.? 16:72959082-72959082 18
34 COSM149265690 ZFHX3 skin,mucosal,malignant melanoma,NS c.1064C>T p.A355V 16:72959082-72959082 18
35 COSM149724575 WT1 skin,lower leg,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 18
36 COSM91367549 WT1 skin,lower leg,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 18
37 COSM147409319 WT1 skin,lower leg,malignant melanoma,NS c.1322G>A p.R441Q 11:32392031-32392031 18
38 COSM100766847 WT1 skin,lower leg,malignant melanoma,NS c.737G>A p.R246Q 11:32392031-32392031 18
39 COSM111525675 WT1 skin,lower leg,malignant melanoma,NS c.1322G>A p.R441Q 11:32392031-32392031 18
40 COSM113471589 WT1 skin,lower leg,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 18
41 COSM130507092 WT1 skin,lower leg,malignant melanoma,NS c.686G>A p.R229Q 11:32392031-32392031 18
42 COSM148575284 WT1 skin,lower leg,malignant melanoma,NS c.1373G>A p.R458Q 11:32392031-32392031 18
43 COSM148045345 TSC1 skin,mucosal,malignant melanoma,NS c.1372C>G p.L458V 9:132906794-132906794 18
44 COSM148126586 TSC1 skin,mucosal,malignant melanoma,NS c.323C>T p.S108F 9:132925627-132925627 18
45 COSM147992661 TSC1 skin,mucosal,malignant melanoma,NS c.1595C>A p.P532H 9:132905980-132905980 18
46 COSM148045391 TSC1 skin,mucosal,malignant melanoma,NS c.1595C>A p.P532H 9:132905980-132905980 18
47 COSM150542379 TSC1 skin,mucosal,malignant melanoma,NS c.2128T>C p.Y710H 9:132902715-132902715 18
48 COSM150536902 TSC1 skin,mucosal,malignant melanoma,NS c.210+1574C>T p.? 9:132925627-132925627 18
49 COSM151877403 TSC1 skin,mucosal,malignant melanoma,NS c.2281T>C p.Y761H 9:132902715-132902715 18
50 COSM111048181 TSC1 skin,mucosal,malignant melanoma,NS c.587C>A p.P196H 9:132921895-132921895 18

Copy number variations for Melanoma from CNVD:

7 (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 related to Melanoma according to KEGG:

36
# Name Kegg Source Accession
1 Melanoma hsa05218

Pathways related to Melanoma according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 PTEN NRAS MAP2K1 KIT GNA11 FBN1
2
Show member pathways
13.42 PTEN NRAS MAP2K1 GNA11 FBN1 CXCL8
3
Show member pathways
13.08 PTEN NRAS MAP2K1 GNAQ GNA11 CTNNB1
4
Show member pathways
13.04 NRAS MAP2K1 GNA11 CTNNB1 CDKN2A BRAF
5
Show member pathways
13.04 PTEN NRAS MAP2K1 KIT GNA11 FBN1
6
Show member pathways
13.03 NRAS MAP2K1 GNAQ GNA11 CXCL8 CTNNB1
7
Show member pathways
12.89 NRAS MAP2K1 GNAQ GNA11 CXCL8 BRAF
8
Show member pathways
12.89 NRAS MAP2K1 GNAQ GNA11 CXCL8 CTNNB1
9
Show member pathways
12.82 NRAS MAP2K1 GNA11 CTNNB1 BRAF
10
Show member pathways
12.8 NRAS MAP2K1 KIT GNAQ GNA11 BRAF
11
Show member pathways
12.8 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
12
Show member pathways
12.78 NRAS MAP2K1 KIT GNAQ GNA11 CTNNB1
13
Show member pathways
12.72 PTEN NRAS MAP2K1 CTNNB1 BRAF
14
Show member pathways
12.71 NRAS MAP2K1 KIT GNAQ CTNNB1 BRAF
15
Show member pathways
12.69 PTEN NRAS MAP2K1 CDKN2A BRAF
16
Show member pathways
12.67 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
17
Show member pathways
12.65 NRAS MAP2K1 GNAQ GNA11 CTNNB1
18
Show member pathways
12.5 NRAS MAP2K1 GNAQ GNA11 BRAF
19
Show member pathways
12.42 PTEN NRAS MAP2K1 BRAF
20
Show member pathways
12.41 NRAS MAP2K1 KIT CXCL8
21
Show member pathways
12.41 NRAS MAP2K1 KIT CTNNB1 BRAF
22
Show member pathways
12.39 PTEN MIR222 MIR221 CDKN2A
23 12.38 PTEN NRAS MAP2K1 KIT GNAQ GNA11
24 12.35 PTEN NRAS MAP2K1 CDKN2A
25
Show member pathways
12.35 NRAS MAP2K1 CTNNB1 BRAF
26
Show member pathways
12.34 MAP2K1 GNAQ GNA11 CTNNB1
27 12.31 NRAS MAP2K1 CTNNB1 BRAF
28
Show member pathways
12.19 PTEN MAP2K1 KIT CXCL8
29
Show member pathways
12.1 PTEN NRAS MAP2K1 BRAF
30
Show member pathways
12.09 NRAS MAP2K1 GNAQ GNA11
31 12.09 PTEN NRAS MAP2K1 CXCL8 CDKN2A
32 12.01 PTEN NRAS MAP2K1 GNAQ
33 11.99 NRAS MAP2K1 GNAQ BRAF
34 11.99 PTEN NRAS CTNNB1 CDKN2A
35 11.98 NRAS MAP2K1 GNAQ BRAF
36
Show member pathways
11.97 MAP2K1 GNAQ GNA11 CTNNB1 BRAF
37
Show member pathways
11.96 NRAS MAP2K1 GNAQ BRAF
38 11.94 MAP2K1 GNAQ GNA11 BRAF
39 11.86 PTEN MAP2K1 CXCL8 CDKN2A BRAF
40 11.85 PTEN NRAS MIRLET7B MIR34A MIR23B MIR222
41 11.83 NRAS MAP2K1 GNAQ GNA11
42
Show member pathways
11.79 NRAS MAP2K1 KIT BRAF
43 11.78 PTEN NRAS MAP2K1 CTNNB1 CDKN2A BRAF
44 11.75 NRAS MAP2K1 BRAF
45 11.75 NRAS MAP2K1 GNAQ GNA11 BRAF
46 11.72 MAP2K1 GNAQ BRAF
47 11.7 MAP2K1 GNAQ BRAF
48
Show member pathways
11.69 NRAS MAP2K1 BRAF
49 11.69 GNAQ GNA11 CXCL8
50 11.68 PTEN NRAS MAP2K1 KIT

GO Terms for Melanoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 MIRLET7B MIR532 MIR23B MIR222 MIR221 MIR205
2 extracellular vesicle GO:1903561 9.02 MIRLET7B MIR34A MIR23B MIR222 MIR221

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.04 PTEN MIR222 MIR221 CTNNB1 BRAF
2 MAPK cascade GO:0000165 9.95 NRAS MAP2K1 KIT BRAF
3 negative regulation of gene expression GO:0010629 9.95 MIR34A MIR23B MAP2K1 CXCL8 CTNNB1
4 negative regulation of cell proliferation GO:0008285 9.88 PTEN MIR221 MAP2K1 CXCL8 CTNNB1 CDKN2A
5 heart development GO:0007507 9.83 PTEN MAP2K1 GNA11 FBN1 CTNNB1
6 miRNA mediated inhibition of translation GO:0035278 9.8 MIR222 MIR221 MIR205 MIR182
7 thymus development GO:0048538 9.75 MAP2K1 CTNNB1 BRAF
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.74 MIR222 MIR221 CTNNB1
9 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.73 PTEN MIR34A MIR182
10 negative regulation of sprouting angiogenesis GO:1903671 9.71 MIR34A MIR23B MIR221
11 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 PTEN MIRLET7B MIR23B MIR222 MIR221 MAP2K1
12 developmental pigmentation GO:0048066 9.64 KIT GNA11
13 negative regulation by host of viral genome replication GO:0044828 9.63 MIR222 MIR221
14 cellular response to insulin-like growth factor stimulus GO:1990314 9.63 PTEN FBN1
15 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.62 MIR222 MIR221
16 somatic stem cell division GO:0048103 9.62 KIT CDKN2A
17 phototransduction, visible light GO:0007603 9.61 GNAQ GNA11
18 entrainment of circadian clock GO:0009649 9.61 GNAQ GNA11
19 gene silencing by miRNA GO:0035195 9.61 MIRLET7B MIR532 MIR34A MIR23B MIR222 MIR221
20 trachea formation GO:0060440 9.6 MAP2K1 CTNNB1
21 myeloid progenitor cell differentiation GO:0002318 9.59 KIT BRAF
22 negative regulation of interleukin-21 production GO:0032705 9.58 MIR222 MIR221
23 negative regulation of cell adhesion molecule production GO:0060354 9.54 MIR222 MIR221 CXCL8
24 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.52 MIR222 MIR221
25 positive regulation of Schwann cell migration GO:1900149 9.51 MIR222 MIR221
26 positive regulation of axon regeneration GO:0048680 9.5 MIR222 MIR221 BRAF
27 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.48 MIR222 MIR221
28 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.46 MIR222 MIR221
29 regulation of axon regeneration GO:0048679 9.43 PTEN MAP2K1 BRAF
30 positive regulation of gene expression GO:0010628 9.32 PTEN MIR34A MIR23B MIR182 MAP2K1 KIT

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIRLET7B MIR34A MIR23B MIR222 MIR221 MIR205
2 type 2A serotonin receptor binding GO:0031826 8.96 GNAQ GNA11

Sources for Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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