MCID: MLN051
MIFTS: 24

Melanoma, Cutaneous Malignant, 6

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

Aliases & Classifications for Melanoma, Cutaneous Malignant, 6

MalaCards integrated aliases for Melanoma, Cutaneous Malignant, 6:

Name: Melanoma, Cutaneous Malignant, 6 54 13
Cutaneous Malignant Melanoma 6 71 29
Melanoma, Cutaneous Malignant 6 71
Cmm6 71

Classifications:



External Ids:

OMIM 54 613972
MedGen 40 C3151417
MeSH 42 D008545

Summaries for Melanoma, Cutaneous Malignant, 6

OMIM : 54
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600. (613972)

MalaCards based summary : Melanoma, Cutaneous Malignant, 6, also known as cutaneous malignant melanoma 6, is related to xrcc3-related cutaneous malignant melanoma. An important gene associated with Melanoma, Cutaneous Malignant, 6 is XRCC3 (X-Ray Repair Cross Complementing 3). The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney.

UniProtKB/Swiss-Prot : 71 Melanoma, cutaneous malignant 6: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

Related Diseases for Melanoma, Cutaneous Malignant, 6

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant, 6

Clinical features from OMIM:

613972

Drugs & Therapeutics for Melanoma, Cutaneous Malignant, 6

Drugs for Melanoma, Cutaneous Malignant, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 3,Phase 2,Phase 1 871700-17-3 11707110
2
Dabrafenib Approved Phase 3,Phase 2,Phase 1 44462760 44516822
3
nivolumab Approved Phase 3,Phase 2,Phase 1 946414-94-4
4
Pembrolizumab Approved Phase 3,Phase 1,Phase 2,Early Phase 1 1374853-91-4
5 Antibodies Phase 3,Phase 2,Phase 1
6 Immunoglobulins Phase 3,Phase 2,Phase 1
7 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 3,Phase 2,Phase 1
9 Antiviral Agents Phase 3,Phase 2
10 Interferon-alpha Phase 3,Phase 2
11 interferons Phase 3,Phase 2,Phase 1,Early Phase 1
12 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
13
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
14
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
15
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
16
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
17
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
18
Vinblastine Approved Phase 1, Phase 2 865-21-4 13342 241903
19
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
22
Vidarabine Approved Phase 2 24356-66-9 32326 21704
23
Nintedanib Approved Phase 1, Phase 2 656247-17-5 56843413
24
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
25
Trabectedin Approved, Investigational Phase 1, Phase 2 114899-77-3 108150
26
Progesterone Approved, Vet_approved Phase 1, Phase 2 57-83-0 5994
27
Bevacizumab Approved, Investigational Phase 2,Phase 1 216974-75-3
28
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
29
Metformin Approved Phase 2 657-24-9 14219 4091
30 tannic acid Approved, Nutraceutical Phase 2
31
Vatalanib Investigational Phase 2 212141-54-3 151194
32
Navitoclax Investigational Phase 1, Phase 2 923564-51-6
33 Alkylating Agents Phase 2,Phase 1
34 Antimitotic Agents Phase 1, Phase 2
35 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
36 Analgesics Phase 2
37 Analgesics, Non-Narcotic Phase 2
38 Anti-HIV Agents Phase 2
39 Antimetabolites Phase 2,Phase 1
40 Antimetabolites, Antineoplastic Phase 2
41 Anti-Retroviral Agents Phase 2
42 Antirheumatic Agents Phase 2,Phase 1
43 Immunosuppressive Agents Phase 2
44 Interleukin-2 Phase 2
45 Peripheral Nervous System Agents Phase 2
46 Vaccines Phase 2,Phase 1
47 Albumin-Bound Paclitaxel Phase 1, Phase 2
48 Complement Factor H Phase 2
49 Complement Inactivating Agents Phase 2
50 Complement System Proteins Phase 2

Interventional clinical trials:

(show top 50) (show all 53)

id Name Status NCT ID Phase Drugs
1 Dabrafenib and Trametinib Followed by Ipilimumab and Nivolumab or Ipilimumab and Nivolumab Followed by Dabrafenib and Trametinib in Treating Patients With Stage III-IV BRAFV600 Melanoma Recruiting NCT02224781 Phase 3 Dabrafenib;Trametinib
2 Ipilimumab or High-Dose Interferon Alfa-2b in Treating Patients With High-Risk Stage III-IV Melanoma That Has Been Removed by Surgery Active, not recruiting NCT01274338 Phase 3
3 High-Dose Recombinant Interferon Alfa-2B, Ipilimumab, or Pembrolizumab in Treating Patients With Stage III-IV High Risk Melanoma That Has Been Removed by Surgery Active, not recruiting NCT02506153 Phase 3
4 Nivolumab and Ipilimumab With or Without Sargramostim in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Suspended NCT02339571 Phase 2, Phase 3
5 Efficacy of Nilotinib in First or Second Line Treatment of Primary Melanomas Stage III Unresectable Melanomas. Unknown status NCT01168050 Phase 2 Nilotinib
6 A Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics, and Anti-Cancer Activity of Trametinib in Combination With Palbociclib in Subjects With Solid Tumors Completed NCT02065063 Phase 2 Trametinib;Palbociclib
7 A Trial Looking at Nilotinib to Treat Acral and Mucosal Melanoma Skin Cancer That Has Spread Completed NCT01395121 Phase 2 nilotinib
8 Vatalanib in Treating Patients With Metastatic Cutaneous Melanoma That Cannot be Removed by Surgery Completed NCT00563823 Phase 2 vatalanib
9 Phase II Study Incorporating Pegylated Interferon In the Treatment For Children With High-Risk Melanoma Completed NCT00539591 Phase 2 Peginterferon alfa-2b;Temozolomide;Recombinant interferon alfa-2b
10 Gamma-secretase/Notch Signalling Pathway Inhibitor RO4929097 in Combination With Cisplatin, Vinblastine, and Temozolomide in Treating Patients With Recurrent or Metastatic Melanoma Completed NCT01196416 Phase 1, Phase 2 Cisplatin;Gamma-Secretase Inhibitor RO4929097;Temozolomide;Vinblastine Sulfate
11 Natural Killer Cells Plus IL-2 Following Chemotherapy to Treat Advanced Melanoma or Kidney Cancer Completed NCT00328861 Phase 2 Natural Killer (NK) Lymphocytes;Cyclophosphamide;Fludarabine
12 Efficacy and Safety of Nintedanib Combined With Paclitaxel Chemotherapy for Patients With BRAF wt Metastatic Melanoma Recruiting NCT02308553 Phase 1, Phase 2 Nintedanib;Nintedanib-Placebo;Paclitaxel
13 A Study of 4SC-202 in Combination With Pembrolizumab in Patients With Unresectable Stage III/Metastatic Stage IV Cutaneous Melanoma Primary Refractory/Non-responding to Prior Anti-PD-1 Therapy Recruiting NCT03278665 Phase 1, Phase 2 4SC-202 in combination with Pembrolizumab
14 Vaccination With Autologous Dendritic Cells Loaded With Autologous Tumor Lysate or Homogenate Combined With Immunomodulating Radiotherapy and/or Preleukapheresis IFN-alfa in Patients With Metastatic Melanoma: a Randomized "Proof-of-principle" Phase II Stu Recruiting NCT01973322 Phase 2
15 A Study of T-VEC (Talimogene Laherparepvec) With or Without Radiotherapy for Melanoma, Merkel Cell Carcinoma, or Other Solid Tumors Recruiting NCT02819843 Phase 2 TALIMOGENE LAHERPAREPVEC (TVEC)
16 Trabectedin, Ipilimumab and Nivolumab as First Line Treatment for Advanced Soft Tissue Sarcoma Recruiting NCT03138161 Phase 1, Phase 2 Trabectedin;Ipilimumab;Nivolumab
17 Ipilimumab With or Without Nivolumab in Treating Patients With Melanoma That is Stage IV or Stage III and Cannot Be Removed by Surgery Recruiting NCT03033576 Phase 2
18 Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer Recruiting NCT02779855 Phase 1, Phase 2 Paclitaxel
19 Talimogene Laherparepvec and Pembrolizumab in Treating Patients With Stage III-IV Melanoma Recruiting NCT02965716 Phase 2
20 Nivolumab With or Without Ipilimumab in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Sarcomas Recruiting NCT02304458 Phase 1, Phase 2
21 Dabrafenib and Trametinib in Treating Patients With Stage III-IV BRAF Mutant Melanoma That Cannot Be Removed by Surgery Recruiting NCT02196181 Phase 2 Dabrafenib;Trametinib
22 Tumor-Infiltrating Lymphocytes After Combination Chemotherapy in Treating Patients With Metastatic Melanoma Recruiting NCT01807182 Phase 2 Cyclophosphamide;Fludarabine Phosphate
23 Dabrafenib, Trametinib, and Navitoclax in Treating Patients With BRAF Mutant Melanoma or Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT01989585 Phase 1, Phase 2 Dabrafenib;Trametinib
24 Pazopanib Hydrochloride in Treating Patients With Metastatic Melanoma That Cannot be Removed by Surgery Active, not recruiting NCT00861913 Phase 2 Pazopanib Hydrochloride
25 Ipilimumab With or Without Bevacizumab in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT01950390 Phase 2
26 Nab-Paclitaxel and Bevacizumab or Ipilimumab as First-Line Therapy in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT02158520 Phase 2 Nab-paclitaxel
27 Survivorship Promotion In Reducing IGF-1 Trial Active, not recruiting NCT02431676 Phase 2 Metformin
28 Phase II Study of Abraxane Plus Ipilimumab in Patients With Metastatic Melanoma Active, not recruiting NCT01827111 Phase 2 ABI-007;Ipilimumab
29 Aldesleukin With or Without Ziv-Aflibercept in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT01258855 Phase 2
30 Pembrolizumab and Ibrutinib in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Suspended NCT03021460 Phase 2 Ibrutinib
31 Recombinant Interleukin-15 in Treating Patients With Advanced Melanoma, Kidney Cancer, Non-small Cell Lung Cancer, or Squamous Cell Head and Neck Cancer Completed NCT01727076 Phase 1
32 Gamma-Secretase Inhibitor RO4929097 and Cediranib Maleate in Treating Patients With Advanced Solid Tumors Completed NCT01131234 Phase 1 Gamma-Secretase Inhibitor RO4929097;Cediranib Maleate
33 Booster Vaccination in Preventing Disease Recurrence in Previously Vaccinated Patients With Melanoma That Has Been Removed By Surgery Completed NCT01989559 Phase 1
34 Combination Therapy of Topical Imiquimod Plus Multipeptide Vaccination for Cutaneous Metastases of Melanoma Completed NCT01264731 Phase 1 Imiquimod
35 A Study of Toca 511, a Retroviral Replicating Vector, Combined With Toca FC in Patients With Solid Tumors or Lymphoma (Toca 6) Recruiting NCT02576665 Phase 1 Toca FC
36 Romidepsin in Treating Patients With Lymphoma, Chronic Lymphocytic Leukemia, or Solid Tumors With Liver Dysfunction Recruiting NCT01638533 Phase 1 Romidepsin
37 Pembrolizumab and Stereotactic Radiosurgery for Melanoma or Non-Small Cell Lung Cancer Brain Metastases Recruiting NCT02858869 Phase 1
38 Pembrolizumab in Treating Patients With HIV and Relapsed, Refractory, or Disseminated Malignant Neoplasms Recruiting NCT02595866 Phase 1
39 Onalespib, Dabrafenib, and Trametinib in Treating Patients With BRAF-Mutant Melanoma or Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02097225 Phase 1 Dabrafenib;Onalespib;Trametinib
40 Ipilimumab With or Without Dabrafenib, Trametinib, and/or Nivolumab in Treating Patients With Melanoma That Is Metastatic or Cannot Be Removed by Surgery Recruiting NCT01940809 Phase 1 Dabrafenib;Trametinib
41 Cediranib Maleate and Selumetinib in Treating Patients With Solid Malignancies Active, not recruiting NCT01364051 Phase 1 Cediranib Maleate;Selumetinib
42 Study to Identify the Optimal Adjuvant Combination Scheme of Ipilimumab and Nivolumab in Melanoma Patients Active, not recruiting NCT02437279 Phase 1 Infusion with ipilimumab 3 mg/kg q3wks;Infusion with nivolumab 1 mg/kg q3wks
43 Riluzole and Sorafenib Tosylate in Treating Patients With Advanced Solid Tumors or Melanoma Active, not recruiting NCT01303341 Phase 1 Riluzole;Sorafenib Tosylate
44 Akt Inhibitor MK2206 and Hydroxychloroquine in Treating Patients With Advanced Solid Tumors, Melanoma, Prostate or Kidney Cancer Active, not recruiting NCT01480154 Phase 1 Akt Inhibitor MK2206;Hydroxychloroquine
45 Paclitaxel Albumin-Stabilized Nanoparticle Formulation and Bevacizumab in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery or Gynecological Cancers Suspended NCT02020707 Phase 1 Paclitaxel Albumin-Stabilized Nanoparticle Formulation
46 Determine Toxicity and Antibody Responses With a KLH Conjugated Bivalent Vaccine Containing GD2 Lactone, GD3 Lactone With Immunological Adjuvant QS-DG or OPT-821 in Patients With Disease Free AJCC Stage III or IV Cutaneous Melanoma Completed NCT00597272
47 Intravital Microscopy in Identifying Tumor Vessels in Patients With Stage IB-IIIC Melanoma Undergoing Sentinel Lymph Node Biopsy Recruiting NCT02857374 Fluorescein Sodium Injection
48 Acceptance and Commitment Therapy in Improving Well-Being in Patients With Stage III-IV Cancer and Their Partners Recruiting NCT03112668
49 A Randomized Trial to Assess the Role of Imaging During Follow up After Radical Surgery of High Risk Melanoma Not yet recruiting NCT03116412
50 Imiquimod and Pembrolizumab in Treating Patients With Stage IIIB-IV Melanoma Not yet recruiting NCT03276832 Early Phase 1 Imiquimod

Search NIH Clinical Center for Melanoma, Cutaneous Malignant, 6

Genetic Tests for Melanoma, Cutaneous Malignant, 6

Genetic tests related to Melanoma, Cutaneous Malignant, 6:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 6 29

Anatomical Context for Melanoma, Cutaneous Malignant, 6

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant, 6:

39
Skin, Eye, Kidney, Lung, Liver, Endothelial, Prostate

Publications for Melanoma, Cutaneous Malignant, 6

Variations for Melanoma, Cutaneous Malignant, 6

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant, 6:

71
id Symbol AA change Variation ID SNP ID
1 XRCC3 p.Thr241Met VAR_013006 rs861539

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant, 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 XRCC3 NM_001100119.1(XRCC3): c.722C> T (p.Thr241Met) single nucleotide variant risk factor rs861539 GRCh37 Chromosome 14, 104165753: 104165753

Cosmic variations for Melanoma, Cutaneous Malignant, 6:

9 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 5
2 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 5
3 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 5
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 5
5 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 5
6 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 5
7 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 5
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 5
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 5
10 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 5
11 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 5
12 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 5
13 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 5
14 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 5

Expression for Melanoma, Cutaneous Malignant, 6

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant, 6.

Pathways for Melanoma, Cutaneous Malignant, 6

GO Terms for Melanoma, Cutaneous Malignant, 6

Sources for Melanoma, Cutaneous Malignant, 6

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