MCID: MLN008
MIFTS: 75

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 70
Malignant Melanoma 12 43
Cutaneous Melanoma 43 70
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 70 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 Ranibizumab 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 : 73 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 1993)
# Related Disease Score Top Affiliating Genes
1 skin melanoma 34.4 SNAPC5 PTEN NRAS MAP2K1 KIT GNAQ
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 34.1 SNAPC5 PTEN NRAS MIR34A MAP2K1 KIT
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 large congenital melanocytic nevus 33.1 NRAS GNAQ GNA11 CDKN2A
17 meningeal melanoma 33.0 NRAS GNAQ GNA11
18 squamous cell carcinoma 32.9 PTEN MIR205 MAP2K1 CTNNB1 CDKN2A BRAF
19 squamous cell carcinoma, head and neck 32.7 PTEN MIR221 MIR205 MAP2K1 CTNNB1 CDKN2A
20 spitz nevus 32.5 CDKN2A BRAF
21 ocular cancer 32.5 MIRLET7B GNAQ GNA11 CDKN2A
22 nevus, epidermal 32.4 PTEN NRAS GNAQ
23 neuroblastoma 32.3 PTEN NRAS MIRLET7B MIR34A MIR23B MIR221
24 lung cancer 32.2 PTEN NRAS MIRLET7B MIR532 MIR34A MIR222
25 renal cell carcinoma, nonpapillary 32.2 PTEN NRAS MIR532 MIR34A MIR23B MIR221
26 adenocarcinoma 32.2 PTEN MAP2K1 KIT CTNNB1 CDKN2A BRAF
27 hemangioma 32.1 PTEN MAP2K1 KIT GNAQ GNA11 CTNNB1
28 pancreatic cancer 32.0 PTEN MIR34A MIR23B MIR222 MIR221 MIR205
29 glioblastoma 32.0 PTEN NRAS MIR34A MIR23B MIR222 MIR221
30 merkel cell carcinoma 31.9 KIT CTNNB1 CDKN2A
31 teratoma 31.9 PTEN KIT CTNNB1 CDKN2A
32 breast cancer 31.8 PTEN NRAS MIR34A MIR222 MIR221 MIR205
33 glioma 31.8 PTEN MIR34A MIR222 MIR221 CDKN2A BRAF
34 rhabdomyosarcoma 31.8 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
35 ovarian cancer 31.8 PTEN MIR34A MIR222 MIR221 MIR205 MIR182
36 lung cancer susceptibility 3 31.8 NRAS MIR205 MIR182 MAP2K1 CTNNB1 CDKN2A
37 myeloma, multiple 31.8 PTEN NRAS MIRLET7B KIT CTNNB1 CDKN2A
38 neurofibroma 31.8 PTEN KIT CDKN2A
39 cystic teratoma 31.8 PTEN KIT CDKN2A
40 bladder cancer 31.8 PTEN NRAS MIR34A MIR23B MIR222 MIR221
41 gastric cancer 31.7 PTEN NRAS MIR34A MIR222 MIR221 MAP2K1
42 leukemia, acute myeloid 31.7 PTEN NRAS MIRLET7B MIR34A MIR23B MIR222
43 endometrial cancer 31.7 PTEN NRAS MIR34A KIT CTNNB1 CDKN2A
44 malignant astrocytoma 31.7 PTEN CTNNB1 CDKN2A BRAF
45 leukemia, chronic lymphocytic 31.7 PTEN NRAS MIR532 MIR34A MIR23B MIR221
46 kidney cancer 31.7 PTEN MIR532 MIR182 CDKN2A
47 prostate cancer 31.6 PTEN MIRLET7B MIR34A MIR23B MIR222 MIR221
48 peripheral nervous system disease 31.6 PTEN MIR34A KIT CTNNB1 CDKN2A
49 dermatomyositis 31.6 MIR34A MIR222 MIR221
50 lymphoma, non-hodgkin, familial 31.6 NRAS MIR34A MIR23B MIR222 MIR182 MAP2K1

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 541)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Vindesine Approved, Investigational Phase 4 59917-39-4, 53643-48-4 40839
3
Etanercept Approved, Investigational Phase 4 185243-69-0
4
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
5
Aminolevulinic acid Approved Phase 4 106-60-5 137
6
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
7
Pasireotide Approved Phase 4 396091-73-9 9941444
8
Lactitol Approved, Investigational Phase 4 585-86-4 157355
9
Cabergoline Approved Phase 4 81409-90-7 54746
10 Cyclosporins Phase 4
11 Calcineurin Inhibitors Phase 4
12 Neurotransmitter Agents Phase 4
13 Dopamine Agents Phase 4
14 Dopamine agonists Phase 4
15 Antiparkinson Agents Phase 4
16
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
17
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
18
Timolol Approved Phase 3 26839-75-8 33624 5478
19
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
20
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
21
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
22
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
23
leucovorin Approved Phase 3 58-05-9 6006
24
BCG vaccine Approved, Investigational Phase 3
25
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
26
Peginterferon alfa-2b Approved Phase 2, Phase 3 99210-65-8, 215647-85-1
27
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
28
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
29
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
30
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
31
Imidacloprid Vet_approved Phase 3 105827-78-9 86418
32
Fotemustine Investigational Phase 3 92118-27-9
33
Oblimersen Experimental, Investigational Phase 2, Phase 3 190977-41-4
34 polysaccharide-K Phase 3
35 Detox adjuvant Phase 3
36 Methyl 5-aminolevulinate Phase 3
37 Pharmaceutical Solutions Phase 3
38 Olive Phase 3
39 Central Nervous System Stimulants Phase 3
40 Calcium, Dietary Phase 3
41 Nutrients Phase 3
42 Trace Elements Phase 3
43 Micronutrients Phase 3
44 Vitamins Phase 3
45 Calciferol Phase 3
46
Calcium Nutraceutical Phase 3 7440-70-2 271
47
Copper Approved, Investigational Phase 2 7440-50-8 27099
48
Tramadol Approved, Investigational Phase 1, Phase 2 27203-92-5 33741
49
Ibuprofen Approved Phase 1, Phase 2 15687-27-1 3672
50
Etoricoxib Approved, Investigational Phase 1, Phase 2 202409-33-4 123619

Interventional clinical trials:

(show top 50) (show all 2426)
# 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 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
3 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Unknown status NCT02626065 Phase 4 Nivolumab
4 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
5 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1) Unknown status NCT03313544 Phase 4 Nivolumab
6 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
7 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
8 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.
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 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
11 Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma Completed NCT02451488 Phase 4 GM-CSF
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 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
14 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
15 Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma Active, not recruiting NCT02068196 Phase 4 Ipilimumab
16 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
17 Influenza Vaccine Responses in the Setting of Melanoma Treatment Enrolling by invitation NCT03315975 Phase 4
18 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
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 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
30 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
31 PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA Unknown status NCT00002767 Phase 3
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 Collaborative Ocular Melanoma Study (COMS) Unknown status NCT00000124 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 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
38 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
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 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)
46 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
47 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
48 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
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 A Phase III Study of Heat Shock Protein-Peptide Complex (HSPPC-96) Versus Physician's Choice Including Interleukin-2 and/or Dacarbazine/Temozolomide-based Therapy and/or Complete Tumor Resection in Stage IV Melanoma Completed NCT00039000 Phase 3 HSPPC-96 or Oncophage

Search NIH Clinical Center for Melanoma

Inferred drug relations via UMLS 70 / 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, Liver, Breast, Eye

Publications for Melanoma

Articles related to Melanoma:

(show top 50) (show all 55125)
# Title Authors PMID Year
1
BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. 6 54 61
18375819 2008
2
Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 54 6 61
16741525 2006
3
Genetic and epigenetic alterations of the APC gene in malignant melanoma. 54 6 61
15133491 2004
4
Exclusion of BRAFV599E as a melanoma susceptibility mutation. 6 54 61
12794760 2003
5
Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 61 54 6
11351304 2001
6
Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 61 6 54
10027390 1999
7
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 6 61
26650189 2016
8
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 6 61
26775776 2016
9
Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 6 61
26678033 2016
10
MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. 61 6
26103569 2015
11
Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. 6 61
25407435 2015
12
BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma. 6 61
24710085 2015
13
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 61 6
25803691 2015
14
Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 6 61
24661573 2014
15
Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. 6 61
24918823 2014
16
The GIST of targeted therapy for malignant melanoma. 61 6
24531699 2014
17
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 61 6
24406078 2014
18
Prognostic value of BRAF mutations in localized cutaneous melanoma. 6 61
24388723 2014
19
Malignant Melanoma with Concurrent BRAF E586K and NRAS Q81K Mutations. 6 61
24926260 2014
20
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 6 61
24670642 2014
21
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 61 6
24576830 2014
22
Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 6 61
24583796 2014
23
Novel ATP-competitive MEK inhibitor E6201 is effective against vemurafenib-resistant melanoma harboring the MEK1-C121S mutation in a preclinical model. 61 6
24448821 2014
24
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. 61 6
24508103 2014
25
Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 61 6
24265155 2014
26
BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 61 6
24586605 2014
27
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 61 6
23774529 2014
28
A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 61 6
24265152 2014
29
The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. 61 6
24265153 2014
30
MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. 61 6
24265154 2014
31
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 61 6
23787126 2013
32
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. 61 6
23647022 2013
33
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 6 61
23918947 2013
34
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 6 61
23582185 2013
35
Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 61 6
23715574 2013
36
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 6 61
23569304 2013
37
Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 61 6
23444215 2013
38
Combined targeting of MEK and PI3K/mTOR effector pathways is necessary to effectively inhibit NRAS mutant melanoma in vitro and in vivo. 6 61
23431193 2013
39
Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. 6 61
23273605 2013
40
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 6 61
23167872 2013
41
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 61 6
23414587 2013
42
BRAF inhibitor activity in V600R metastatic melanoma. 61 6
23237741 2013
43
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 61 6
22972589 2013
44
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 61 6
23302800 2013
45
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 61 6
23317446 2013
46
Intratumoral molecular heterogeneity in a BRAF-mutant, BRAF inhibitor-resistant melanoma: a case illustrating the challenges for personalized medicine. 61 6
22962325 2012
47
Dual suppression of the cyclin-dependent kinase inhibitors CDKN2C and CDKN1A in human melanoma. 6 61
22997239 2012
48
Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 61 6
23031422 2012
49
BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 61 6
22798288 2012
50
Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. 61 6
22653968 2012

Variations for Melanoma

ClinVar genetic disease variations for Melanoma:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP2K1 NM_002755.3(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.182_183delinsTG (p.Gln61Leu) Indel Pathogenic 375872 rs1057519695 GRCh37: 1:115256528-115256529
GRCh38: 1:114713907-114713908
3 NRAS NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 40471 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
4 BRAF NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) Indel Pathogenic 375941 rs121913227 GRCh37: 7:140453136-140453137
GRCh38: 7:140753336-140753337
5 BRAF NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) Indel Pathogenic 375939 rs121913377 GRCh37: 7:140453135-140453136
GRCh38: 7:140753335-140753336
6 BRAF NM_001374258.1(BRAF):c.1918G>A (p.Val640Met) SNV Pathogenic 44815 rs121913378 GRCh37: 7:140453137-140453137
GRCh38: 7:140753337-140753337
7 BRAF NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) Indel Pathogenic 375940 rs121913227 GRCh37: 7:140453136-140453137
GRCh38: 7:140753336-140753337
8 PTEN NM_000314.8(PTEN):c.633C>A SNV Pathogenic 7836 rs121909232 GRCh37: 10:89712015-89712015
GRCh38: 10:87952258-87952258
9 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val) SNV Pathogenic 375876 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
10 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
11 BRAF NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) SNV Pathogenic 375944 rs121913337 GRCh37: 7:140453153-140453153
GRCh38: 7:140753353-140753353
12 BRAF NM_001374258.1(BRAF):c.1910T>A (p.Leu637Gln) SNV Pathogenic 76687 rs121913366 GRCh37: 7:140453145-140453145
GRCh38: 7:140753345-140753345
13 BRAF NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) SNV Pathogenic 375946 rs121913338 GRCh37: 7:140453154-140453154
GRCh38: 7:140753354-140753354
14 BRAF NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) Indel Pathogenic 375942 rs121913368 GRCh37: 7:140453145-140453146
GRCh38: 7:140753345-140753346
15 NRAS NM_002524.5(NRAS):c.183A>C (p.Gln61His) SNV Pathogenic 375871 rs121913255 GRCh37: 1:115256528-115256528
GRCh38: 1:114713907-114713907
16 GNAQ NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) SNV Pathogenic 375957 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
17 MAP2K1 , SNAPC5 NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) SNV Pathogenic 375984 rs1057519735 GRCh37: 15:66782915-66782915
GRCh38: 15:66490577-66490577
18 MAP2K1 NM_002755.3(MAP2K1):c.332T>G (p.Ile111Ser) SNV Pathogenic 375979 rs1057519730 GRCh37: 15:66729124-66729124
GRCh38: 15:66436786-66436786
19 MAP2K1 NM_002755.3(MAP2K1):c.157T>C (p.Phe53Leu) SNV Pathogenic 375977 rs1057519728 GRCh37: 15:66727441-66727441
GRCh38: 15:66435103-66435103
20 MAP2K1 NM_002755.3(MAP2K1):c.790C>T (p.Pro264Ser) SNV Pathogenic 375983 rs1057519734 GRCh37: 15:66777424-66777424
GRCh38: 15:66485086-66485086
21 NRAS NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) Indel Pathogenic 375873 rs1057519695 GRCh37: 1:115256528-115256529
GRCh38: 1:114713907-114713908
22 BRAF NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) SNV Pathogenic 375945 rs121913337 GRCh37: 7:140453153-140453153
GRCh38: 7:140753353-140753353
23 BRAF NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) Indel Pathogenic 375948 rs1057519718 GRCh37: 7:140453155-140453156
GRCh38: 7:140753355-140753356
24 NRAS NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) SNV Pathogenic 375875 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
25 GNA11 NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) SNV Pathogenic 376002 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
26 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Pathogenic 376001 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
27 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Pathogenic 375955 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
28 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
29 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
30 NRAS NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) SNV Pathogenic 375877 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
31 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
32 MAP2K1 NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) SNV Pathogenic 375981 rs1057519732 GRCh37: 15:66729162-66729162
GRCh38: 15:66436824-66436824
33 MAP2K1 NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) SNV Pathogenic 40744 rs397516792 GRCh37: 15:66729163-66729163
GRCh38: 15:66436825-66436825
34 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 40468 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
35 CDKN2A NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) SNV Pathogenic 9412 rs104894094 GRCh37: 9:21971057-21971057
GRCh38: 9:21971058-21971058
36 KIT NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) SNV Pathogenic 375923 rs1057519708 GRCh37: 4:55594262-55594262
GRCh38: 4:54728096-54728096
37 KIT NM_000222.2(KIT):c.1676T>A (p.Val559Asp) SNV Pathogenic 13856 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
38 CTNNB1 NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) SNV Pathogenic 375894 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
39 KIT NM_000222.2(KIT):c.1676T>G (p.Val559Gly) SNV Pathogenic 375912 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
40 KIT NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) SNV Pathogenic 375908 rs121913235 GRCh37: 4:55593603-55593603
GRCh38: 4:54727437-54727437
41 KIT NM_000222.2(KIT):c.1679T>A (p.Val560Asp) SNV Pathogenic 375914 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
42 KIT NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) SNV Pathogenic 375933 rs1057519713 GRCh37: 4:55602664-55602664
GRCh38: 4:54736498-54736498
43 KIT NM_000222.2(KIT):c.1679T>G (p.Val560Gly) SNV Pathogenic 375916 rs121913521 GRCh37: 4:55593613-55593613
GRCh38: 4:54727447-54727447
44 KIT NM_000222.2(KIT):c.1650A>T (p.Lys550Asn) SNV Pathogenic 375906 rs1057519703 GRCh37: 4:55593584-55593584
GRCh38: 4:54727418-54727418
45 KIT NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) SNV Pathogenic 375919 rs121913513 GRCh37: 4:55593661-55593661
GRCh38: 4:54727495-54727495
46 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
47 KIT NM_000222.2(KIT):c.1961T>C (p.Val654Ala) SNV Pathogenic 375921 rs121913523 GRCh37: 4:55594258-55594258
GRCh38: 4:54728092-54728092
48 KIT NM_000222.2(KIT):c.2458G>C (p.Asp820His) SNV Pathogenic 375927 rs1057519710 GRCh37: 4:55599332-55599332
GRCh38: 4:54733166-54733166
49 KIT NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) SNV Pathogenic 375924 rs1057519708 GRCh37: 4:55594262-55594262
GRCh38: 4:54728096-54728096
50 CTNNB1 NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) SNV Pathogenic 375895 rs121913409 GRCh37: 3:41266137-41266137
GRCh38: 3:41224646-41224646

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 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 PTEN NRAS MAP2K1 KIT GNA11 FBN1
2
Show member pathways
13.07 PTEN NRAS MAP2K1 GNAQ GNA11 CTNNB1
3
Show member pathways
13.03 NRAS MAP2K1 GNA11 CTNNB1 CDKN2A BRAF
4
Show member pathways
13.01 PTEN NRAS MAP2K1 KIT GNA11 FBN1
5
Show member pathways
12.94 NRAS MAP2K1 GNAQ GNA11 CTNNB1 CDKN2A
6
Show member pathways
12.87 NRAS MAP2K1 GNAQ GNA11 BRAF
7
Show member pathways
12.85 PTEN NRAS MAP2K1 GNA11 BRAF
8
Show member pathways
12.81 NRAS MAP2K1 GNA11 CTNNB1 BRAF
9
Show member pathways
12.76 NRAS MAP2K1 KIT GNAQ GNA11 BRAF
10
Show member pathways
12.75 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
11
Show member pathways
12.71 PTEN NRAS MAP2K1 CTNNB1 BRAF
12
Show member pathways
12.69 NRAS MAP2K1 KIT GNAQ CTNNB1 BRAF
13
Show member pathways
12.69 NRAS MAP2K1 KIT GNAQ GNA11 CTNNB1
14
Show member pathways
12.68 PTEN NRAS MAP2K1 CDKN2A BRAF
15
Show member pathways
12.64 NRAS MAP2K1 GNAQ GNA11 CTNNB1
16
Show member pathways
12.61 PTEN NRAS MAP2K1 KIT CTNNB1 CDKN2A
17
Show member pathways
12.48 NRAS MAP2K1 GNAQ GNA11 BRAF
18
Show member pathways
12.41 PTEN NRAS MAP2K1 BRAF
19
Show member pathways
12.4 NRAS MAP2K1 KIT CTNNB1 BRAF
20
Show member pathways
12.38 PTEN MIR222 MIR221 CDKN2A
21 12.34 PTEN NRAS MAP2K1 CDKN2A
22
Show member pathways
12.34 NRAS MAP2K1 CTNNB1 BRAF
23 12.33 PTEN NRAS MAP2K1 KIT GNAQ GNA11
24
Show member pathways
12.32 MAP2K1 GNAQ GNA11 CTNNB1
25 12.3 NRAS MAP2K1 CTNNB1 BRAF
26 12.16 PTEN NRAS MAP2K1 CDKN2A
27
Show member pathways
12.08 PTEN NRAS MAP2K1 BRAF
28
Show member pathways
12.07 NRAS MAP2K1 GNAQ GNA11
29 12 PTEN NRAS MAP2K1 GNAQ
30 11.98 NRAS MAP2K1 GNAQ BRAF
31 11.97 PTEN NRAS CTNNB1 CDKN2A
32 11.96 NRAS MAP2K1 GNAQ BRAF
33
Show member pathways
11.94 NRAS MAP2K1 GNAQ BRAF
34 11.92 PTEN MAP2K1 CDKN2A BRAF
35
Show member pathways
11.92 MAP2K1 GNAQ GNA11 CTNNB1 BRAF
36 11.91 MAP2K1 GNAQ GNA11 BRAF
37 11.85 PTEN NRAS MIRLET7B MIR34A MIR23B MIR222
38 11.8 NRAS MAP2K1 GNAQ GNA11
39
Show member pathways
11.76 NRAS MAP2K1 KIT BRAF
40 11.73 NRAS MAP2K1 BRAF
41 11.73 NRAS MAP2K1 GNAQ GNA11 BRAF
42 11.73 MAP2K1 GNAQ GNA11 CTNNB1 BRAF
43 11.7 MAP2K1 GNAQ BRAF
44 11.69 MAP2K1 GNAQ BRAF
45
Show member pathways
11.68 NRAS MAP2K1 BRAF
46 11.68 PTEN NRAS MAP2K1 CTNNB1 CDKN2A BRAF
47 11.67 NRAS MAP2K1 CDKN2A BRAF
48 11.64 PTEN NRAS MAP2K1 KIT
49 11.58 NRAS MAP2K1 GNAQ GNA11
50 11.55 MIR23B MIR222 MIR221

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 9.61 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 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.03 PTEN MIR222 MIR221 CTNNB1 BRAF
2 negative regulation of cell proliferation GO:0008285 9.99 PTEN MIR221 MAP2K1 CTNNB1 CDKN2A
3 MAPK cascade GO:0000165 9.94 NRAS MAP2K1 KIT BRAF
4 heart development GO:0007507 9.77 PTEN MAP2K1 GNA11 FBN1 CTNNB1
5 miRNA mediated inhibition of translation GO:0035278 9.76 MIR222 MIR221 MIR205 MIR182
6 thymus development GO:0048538 9.72 MAP2K1 CTNNB1 BRAF
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 MIR222 MIR221 CTNNB1
8 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.7 PTEN MIR34A MIR182
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 PTEN MIRLET7B MIR23B MIR222 MIR221 MAP2K1
10 negative regulation of sprouting angiogenesis GO:1903671 9.69 MIR34A MIR23B MIR221
11 developmental pigmentation GO:0048066 9.63 KIT GNA11
12 negative regulation by host of viral genome replication GO:0044828 9.62 MIR222 MIR221
13 cellular response to insulin-like growth factor stimulus GO:1990314 9.62 PTEN FBN1
14 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.61 MIR222 MIR221
15 somatic stem cell division GO:0048103 9.61 KIT CDKN2A
16 gene silencing by miRNA GO:0035195 9.61 MIRLET7B MIR532 MIR34A MIR23B MIR222 MIR221
17 phototransduction, visible light GO:0007603 9.6 GNAQ GNA11
18 entrainment of circadian clock GO:0009649 9.58 GNAQ GNA11
19 trachea formation GO:0060440 9.58 MAP2K1 CTNNB1
20 myeloid progenitor cell differentiation GO:0002318 9.57 KIT BRAF
21 negative regulation of interleukin-21 production GO:0032705 9.56 MIR222 MIR221
22 positive regulation of axon regeneration GO:0048680 9.5 MIR222 MIR221 BRAF
23 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.49 MIR222 MIR221
24 positive regulation of Schwann cell migration GO:1900149 9.48 MIR222 MIR221
25 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.43 MIR222 MIR221
26 regulation of axon regeneration GO:0048679 9.43 PTEN MAP2K1 BRAF
27 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.4 MIR222 MIR221
28 positive regulation of gene expression GO:0010628 9.28 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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