CMM1
MCID: MLN066
MIFTS: 66

Melanoma, Cutaneous Malignant 1 (CMM1)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 1

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 1:

Name: Melanoma, Cutaneous Malignant 1 57
Familial Melanoma 12 58 6 15
Melanoma, Cutaneous Malignant, 1 57 13
Cutaneous Malignant Melanoma 1 29 6
Familial Atypical Mole-Malignant Melanoma Syndrome; Fammm 57
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1 39
Melanoma, Cutaneous Malignant, Susceptibility to, 1 57
Familial Atypical Mole-Malignant Melanoma Syndrome 57
Dysplastic Nevus Syndrome, Hereditary; Dns 57
Familial Atypical Mole Melanoma Syndrome 71
Dysplastic Nevus Syndrome, Hereditary 57
Melanoma, Cutaneous Malignant; Cmm 57
Melanoma, Cutaneous Malignant 57
Dysplastic Nevus Syndrome 71
Melanoma, Familial; Mlm 57
Melanoma, Malignant 57
Hereditary Melanoma 71
Melanoma, Familial 57
Cutaneous Melanoma 71
B-K Mole Syndrome 57
Fammm 57
Cmm1 57
Cmm 57
Mlm 57
Dns 57

Characteristics:

Orphanet epidemiological data:

58
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
melanoma, cutaneous malignant 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:6846
OMIM® 57 155600
OMIM Phenotypic Series 57 PS155600
NCIt 50 C8498
UMLS via Orphanet 72 C2314896
Orphanet 58 ORPHA618
MedGen 41 C1835047
UMLS 71 C0013403 C0151779 C1512419 more

Summaries for Melanoma, Cutaneous Malignant 1

OMIM® : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). (155600) (Updated 05-Mar-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 1, also known as familial melanoma, is related to skin melanoma and acral lentiginous melanoma. An important gene associated with Melanoma, Cutaneous Malignant 1 is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence (REACTOME). The drugs BCG vaccine and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and liver, and related phenotypes are nevus and melanoma

Related Diseases for Melanoma, Cutaneous Malignant 1

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

Diseases related to Melanoma, Cutaneous Malignant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 skin melanoma 32.7 TERT TERF2IP STK11 NRAS MITF MC1R
2 acral lentiginous melanoma 32.4 TERT NRAS MC1R CDKN2A
3 dysplastic nevus syndrome 32.4 STK11 CMM CDKN2A
4 hereditary melanoma 32.3 CMM CDKN2A-DT CDKN2A CDK4
5 melanocytic nevus syndrome, congenital 32.3 STK11 NRAS MC1R
6 melanoma 31.0 XRCC3 TERT STK11 POT1 NRAS MITF
7 ocular melanoma 31.0 TERT NRAS MC1R CDKN2A BAP1
8 nodular malignant melanoma 30.9 NRAS MITF MC1R CDKN2A CDK4
9 malignant astrocytoma 30.9 TERT MGMT CDKN2A CDK4
10 melanoma-astrocytoma syndrome 30.8 CDKN2B-AS1 CDKN2B CDKN2A
11 basal cell carcinoma 30.7 XRCC3 TERT MC1R CDKN2B-AS1 CDKN2B CDKN2A
12 li-fraumeni syndrome 30.7 TERT STK11 CDKN2B CDKN2A CDK4
13 esophageal cancer 30.6 TERT MIR200A MGMT CDKN2B-AS1 CDKN2B CDKN2A
14 bladder cancer 30.6 TERT NRAS MIR200A CDKN2B-AS1 CDKN2B CDKN2A
15 glioblastoma 30.6 TERT NRAS MGMT CDKN2B CDKN2A CDK4
16 actinic keratosis 30.5 MITF MC1R CDKN2B CDKN2A
17 skin carcinoma 30.4 XRCC3 TERT STK11 NRAS MITF MC1R
18 melanoma in congenital melanocytic nevus 30.4 NRAS MITF MC1R CDKN2A CDK4
19 melanoma, uveal 30.4 TERT NRAS MITF MC1R CDKN2A CDK4
20 lentigo maligna melanoma 30.4 MITF MC1R
21 differentiated thyroid carcinoma 30.4 XRCC3 TERT NRAS
22 melanoma, cutaneous malignant 3 11.7
23 melanoma, cutaneous malignant 5 11.7
24 melanoma, cutaneous malignant 6 11.7
25 melanoma, cutaneous malignant 9 11.7
26 melanoma, cutaneous malignant 10 11.7
27 mirror movements 1 11.7
28 melanoma, cutaneous malignant 4 11.5
29 skin/hair/eye pigmentation, variation in, 3 11.4
30 diabetic neuropathy 11.1
31 melanoma, malignant familial intraocular 11.0
32 clear cell sarcoma 11.0
33 pancreatic cancer 11.0
34 tumor predisposition syndrome 11.0
35 bap1 tumor predisposition syndrome 11.0
36 glial tumor 10.9
37 melanoma, cutaneous malignant 2 10.9
38 melanoma, cutaneous malignant 7 10.9
39 melanoma, cutaneous malignant 8 10.9
40 glioma 10.6 POT1 CDKN2B-AS1 CDKN2A CDK4
41 mediastinum liposarcoma 10.6 CDKN2A CDK4
42 lung benign neoplasm 10.6 TERT STK11 MGMT CDKN2A
43 spitzoid melanoma 10.6 TERT NRAS CDKN2A
44 oligodendroglioma 10.6 TERT POT1 MGMT CDKN2B CDKN2A CDK4
45 mixed oligodendroglioma-astrocytoma 10.6 TERT MGMT CDKN2B
46 malignant spindle cell melanoma 10.6 NRAS MITF CDKN2A
47 mucosal melanoma 10.6 TERT NRAS MITF CDKN2A BAP1
48 laryngeal squamous cell carcinoma 10.6 TERT CDKN2B-AS1 CDKN2B CDKN2A
49 revesz syndrome 10.6 TERT TERF2IP ACD
50 malignant peritoneal mesothelioma 10.6 CDKN2A BAP1

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 1:



Diseases related to Melanoma, Cutaneous Malignant 1

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 1

Human phenotypes related to Melanoma, Cutaneous Malignant 1:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
2 melanoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002861
3 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
4 abnormality of the lymphatic system 58 31 frequent (33%) Frequent (79-30%) HP:0100763
5 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
6 abnormal hair morphology 31 frequent (33%) HP:0001595
7 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
8 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
9 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
10 neoplasm of the stomach 58 31 occasional (7.5%) Occasional (29-5%) HP:0006753
11 neoplasm of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0100013
12 abnormality of the eye 31 HP:0000478
13 abnormality of the hair 58 Frequent (79-30%)
14 cutaneous melanoma 31 HP:0012056
15 numerous nevi 31 HP:0001054
16 atypical nevus 31 HP:0001062
17 atypical nevi in non-sun exposed areas 31 HP:0001074
18 uveal melanoma 31 HP:0007716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
numerous nevi
atypical nevi (>5mm with irregular edge and pigmentation)
atypical nevi often present in non-sun exposed areas

Neoplasia:
malignant melanoma

Head And Neck Eyes:
intraocular melanoma

Clinical features from OMIM®:

155600 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ACD BAP1 CDK4 CDKN2A CDKN2B MC1R
2 hematopoietic system MP:0005397 10.17 BAP1 CDK4 CDKN2A CDKN2B MC1R MITF
3 endocrine/exocrine gland MP:0005379 10.16 ACD BAP1 CDK4 CDKN2A CDKN2B MGMT
4 mortality/aging MP:0010768 10.13 ACD BAP1 CDK4 CDKN2A CDKN2B MGMT
5 integument MP:0010771 10.1 ACD BAP1 CDK4 CDKN2A CDKN2B MC1R
6 digestive/alimentary MP:0005381 10.02 ACD BAP1 CDK4 CDKN2A NRAS STK11
7 neoplasm MP:0002006 9.96 ACD BAP1 CDK4 CDKN2A CDKN2B MC1R
8 liver/biliary system MP:0005370 9.91 CDK4 CDKN2A MITF NRAS STK11 TERF2IP
9 no phenotypic analysis MP:0003012 9.85 BAP1 CDKN2A CDKN2B MC1R MGMT MITF
10 pigmentation MP:0001186 9.5 ACD CDK4 CDKN2A MC1R MITF NRAS
11 reproductive system MP:0005389 9.28 ACD BAP1 CDK4 CDKN2A CDKN2B MITF

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 1

Drugs for Melanoma, Cutaneous Malignant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 142)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
BCG vaccine Approved, Investigational Phase 2, Phase 3
2
Trametinib Approved Phase 3 871700-17-3 11707110
3
Dabrafenib Approved, Investigational Phase 3 1195765-45-7 44462760 44516822
4
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
5
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
6
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
7
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
8
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
9 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
10 Vaccines Phase 3
11 Immunologic Factors Phase 3
12 interferons Phase 3
13 Interferon-alpha Phase 3
14 Interferon alpha-2 Phase 3
15 Antineoplastic Agents, Immunological Phase 3
16 Alkylating Agents Phase 3
17
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
18
Trabectedin Approved, Investigational Phase 1, Phase 2 114899-77-3 108150
19
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
20
Propranolol Approved, Investigational Phase 1, Phase 2 525-66-6 4946
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Polidocanol Approved Phase 2 9002-92-0
23
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
24
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
25
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
26
Bevacizumab Approved, Investigational Phase 2 216974-75-3
27
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
28
Hydroxychloroquine Approved Phase 2 118-42-3 3652
29
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
30
Ipilimumab Approved Phase 2 477202-00-9
31
nivolumab Approved Phase 2 946414-94-4
32
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
33
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
34
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
35
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
36
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
37
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
38
Fenretinide Investigational Phase 2 65646-68-6
39
Vatalanib Investigational Phase 2 212141-54-3 151194
40
Tremelimumab Investigational Phase 2 745013-59-6
41
Betulinic acid Investigational Phase 1, Phase 2 472-15-1 64971
42
Imidazole Experimental, Investigational Phase 2 288-32-4 795
43 Tea Phase 2
44 Interferon-beta Phase 2
45 HIV Protease Inhibitors Phase 1, Phase 2
46
protease inhibitors Phase 1, Phase 2
47 BIRC5 protein, human Phase 1, Phase 2
48 Protein Kinase Inhibitors Phase 2
49 Antibodies, Blocking Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show top 50) (show all 138)
# Name Status NCT ID Phase Drugs
1 Randomized, Comparative Phase II/III Study Between Treatment With CSF470 Vaccine (Allogeneic, Irradiated) Plus BCG and MOLGRAMOSTIN (rhGM-CSF) as Adjuvants and Interferon-alfa 2b (IFN-ALPHA), in Stages IIB, IIC and III Post Surgery Cutaneous Melanoma Patients Unknown status NCT01729663 Phase 2, Phase 3 interferon alpha 2b
2 Adjuvant Ganglioside GM2-KLH/QS-21 Vaccination: Post-Operative Adjuvant Ganglioside GM2-KLH/QS-21 (BMS-248479) Vaccination Treatment After Resection of Primary Cutaneous Melanoma Thicker Than 1.5mm (AJCC/UICC Stage II, T3-T4N0M0), a 2-Arm Multicenter Randomized Phase III Trial vs. Observation Unknown status NCT00005052 Phase 3
3 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
4 The NEMO Trial (NRAS Melanoma and MEK Inhibitor):A Randomized Phase III, Open Label, Multicenter, Two-arm Study Comparing the Efficacy of MEK162 Versus Dacarbazine in Patients With Advanced Unresectable or Metastatic NRAS Mutation-positive Melanoma Completed NCT01763164 Phase 3 MEK162;Dacarbazine
5 A Random-Assignment Study of Hepatic Arterial Infusion of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) (Delcath System) Versus Best Alternative Care for Ocular and Cutaneous Melanoma Metastatic to the Liver Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
6 Randomized, Multicenter Phase III Trial Comparing Adjuvant Treatment With PegIntron Over 36 Months Versus Reference Treatment With IntronA Over 18 Months in Cutaneous Melanoma Patients AJCC Stage II (>=1.5 mm Clinically Node Negative) Completed NCT00221702 Phase 3 PegIntron;intron A
7 A Prospective Randomized Phase III Clinical Trial Assessing the Role of Post-Operative Radiotherapy Plus Adjuvant Interferon Alpha-2b in Patients With Cervical, Axillary, and Inguinal Nodal Metastasis From Cutaneous Melanoma Completed NCT00003444 Phase 3
8 A Phase III, Randomised, Open-label Study Comparing the Combination of the BRAF Inhibitor, Dabrafenib and the MEK Inhibitor, Trametinib to the BRAF Inhibitor Vemurafenib in Subjects With Unresectable (Stage IIIc) or Metastatic (Stage IV) BRAF V600E/K Mutation Positive Cutaneous Melanoma Completed NCT01597908 Phase 3 Dabrafenib;Vemurafenib;Trametinib
9 A Phase III, Randomized, Double-blinded Study Comparing the Combination of the BRAF Inhibitor, Dabrafenib and the MEK Inhibitor, Trametinib to Dabrafenib and Placebo as First-line Therapy in Subjects With Unresectable (Stage IIIC) or Metastatic (Stage IV) BRAF V600E/K Mutation-positive Cutaneous Melanoma Completed NCT01584648 Phase 3 dabrafenib;dabrafenib plus trametinib placebo;Trametinib
10 Melanoma Margins Trial-II - A Phase III, Multi-centre Randomised Controlled Trial Investigating 1cm v 2cm Wide Surgical Excision Margins for AJCC Stage II Primary Cutaneous Melanoma (02.18 MelMarT-II) Recruiting NCT03860883 Phase 3
11 Randomized Phase II/III Study of Nivolumab Plus Ipilimumab Plus Sargramostim Versus Nivolumab Plus Ipilimumab in Patients With Unresectable Stage III or Stage IV Melanoma Recruiting NCT02339571 Phase 2, Phase 3
12 A Phase III Randomized Trial Comparing Physician/Patient Choice of Either High Dose Interferon or Ipilimumab to MK-3475 (Pembrolizumab) in Patients With High Risk Resected Melanoma Active, not recruiting NCT02506153 Phase 3
13 A Phase III, Multi-centre, Multi-national Randomised Control Trial Investigating 1cm v 2cm Wide Excision Margins for Primary Cutaneous Melanoma Active, not recruiting NCT02385214 Phase 3
14 INSPIRE-AYA: A Multicenter Interactive Survivorship Program to Improve Healthcare Resources for Adolescent and Young Adult (AYA) Cancer Survivors Not yet recruiting NCT04593277 Phase 3
15 PV-10 Intralesional Injection vs Systemic Chemotherapy or Oncolytic Viral Therapy for Treatment of Locally Advanced Cutaneous Melanoma Terminated NCT02288897 Phase 3 PV-10 (10% rose bengal disodium);Dacarbazine, temozolomide or talimogene laherparepvec
16 Vaccination of Stage IV Cutaneous Melanoma Patients With Mature, Autologous Monocyte-Derived Dendritic Cells Transfected With Unselected Autologous Amplified Tumor-RNA Unknown status NCT00126685 Phase 1, Phase 2
17 Randomized, Open Phase II Study of Immunization With the Recombinant MAGE-3 Protein Combined With Adjuvant AS02B or AS15 in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Unknown status NCT00086866 Phase 2
18 A Phase II Double-Blind Study of Topical Tretinoin With or Without Oral 4-HPR (Fenretinide) in Patients With the Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
19 Evaluation of the Nutritional Supplement Oncoxin-Viusid® in the Treatment of 20 Patients With Cutaneous Melanoma in Stage IIB-IIIA Completed NCT03541148 Phase 2
20 A Multicenter, Open Label, Randomized Phase II Trial of the MEK Inhibitor Pimasertib or Dacarbazine in Previously Untreated Subjects With N-Ras Mutated Locally Advanced or Metastatic Malignant Cutaneous Melanoma Completed NCT01693068 Phase 2 Pimasertib;Dacarbazine
21 A Japanese Open-label Phase I/II Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of GSK2118436 and GSK1120212 Combination Therapy in Subjects With BRAF V600E/K Mutation Positive Advanced Solid Tumors (Phase I Part) and BRAF V600E/K Mutation Positive Cutaneous Melanoma (Phase II Part). Completed NCT01928940 Phase 2 dabrafenib;trametinib
22 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
23 Vaccination of Stage IV Cutaneous Melanoma Patients With Mature, Autologous Monocyte-Derived Dendritic Cells Transfected With RNAs Encoding for Mage-3, MelanA, and Survivin Antigens Completed NCT00074230 Phase 1, Phase 2
24 A Phase 1b/2a Study Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of AMG 232 Combined With Trametinib and Dabrafenib or Trametinib in Adult Subjects With Metastatic Cutaneous Melanoma Completed NCT02110355 Phase 1, Phase 2 AMG 232;Trametinib;Dabrafenib
25 A Phase II Study to Evaluate the Efficacy and Safety of PTK787 in Patients With Metastatic Cutaneous Melanoma Completed NCT00563823 Phase 2 vatalanib
26 Evaluation of Cobimetinib + Vemurafenib Combination Treatment in Patients With Brain Metastasis BRAFV600 Mutated Cutaneous Melanoma Completed NCT02537600 Phase 2 Cobimetinib + Vemurafenib combination treatment
27 Pilot Phase II, Open Label, Multicenter, Efficacy and Safety Study of 852A Administered Intravenously to Subjects With Unresectable Metastatic Cutaneous Melanoma. Completed NCT00189332 Phase 2 852A
28 Clinical Activity, Safety and Immunogenic Properties of Cancer Immunotherapeutic GSK2132231A in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Completed NCT00896480 Phase 2
29 Combination of Targeted Therapy (Encorafenib and Binimetinib) Followed by Combination of Immunotherapy (Ipilimumab and Nivolumab) vs Immediate Combination of Immunotherapy in Patients With Unresectable or Metastatic Melanoma With BRAF V600 Mutation : an EORTC Randomized Phase II Study (EBIN) Recruiting NCT03235245 Phase 2 Nivolumab + Ipilimumab;Encorafenib + Binimetinib
30 SAINT: A Phase 1/2 Study of Safe Amounts of IPLIMUMAB, NIVOLUMAB and TRABECTEDIN as First Line Treatment of Advanced Soft Tissue Sarcoma (STS) Recruiting NCT03138161 Phase 1, Phase 2 Trabectedin;Ipilimumab;Nivolumab
31 A Phase II Trial of PD-L1 Therapy Combined With Anti-VEGF Therapy in Unresectable or Metastatic Melanoma Recruiting NCT04356729 Phase 2 Atezolizumab;Bevacizumab
32 Neoadjuvant and Adjuvant Checkpoint Blockade in Patients With Clinical Stage III or Oligometastatic Stage IV Melanoma Recruiting NCT02519322 Phase 2
33 A Phase 2 Study of Combination Treatment of Binimetinib and Nivolumab for Advanced V600BRAF Wildtype Melanoma With Innate Anti-PD-1 Resistance Recruiting NCT04375527 Phase 2 Binimetinib
34 Altering Adjuvant Therapy Based on Pathologic Response to Neoadjuvant Dabrafenib and Trametinib (ALTER-PATH NeoDT) Recruiting NCT04310397 Phase 2 Dabrafenib;Trametinib
35 Diet and Immune Effects Trial: DIET- A Randomized Double Blinded Dietary Intervention Study in Patients With Metastatic Melanoma Receiving Immunotherapy Recruiting NCT04645680 Phase 2
36 Neoadjuvant Therapy for Patients With High Risk Stage III Melanoma: A Pilot Clinical Trial Recruiting NCT03554083 Phase 2 Atezolizumab;Cobimetinib;Vemurafenib
37 A Phase Ib/II Study of Propranolol With Fixed-Dose Pembrolizumab in Patients With Unresectable Stage III and Stage IV Melanoma Recruiting NCT03384836 Phase 1, Phase 2 Propranolol Hydrochloride
38 A Phase II Trial to Determine Local Control and Neurocognitive Preservation After Initial Treatment With Stereotactic Radiosurgery (SRS) for Patients With >3 Melanoma Brain Metastases Recruiting NCT01644591 Phase 2
39 A Randomized Phase 2 Study of Rituxan Hycela in Patients With Advanced Melanoma Undergoing Combination Immune Checkpoint Blockade With Nivolumab and Ipilimumab Recruiting NCT03719131 Phase 2 Nivolumab;Ipilimumab
40 A Phase II Study of Open Label Low Dose Ipilimumab in Combination With Pembrolizumab in Metastatic Melanoma Patients With Brain Metastases Recruiting NCT03873818 Phase 2
41 Neoadjuvant Combination Immunotherapy for Stage III Melanoma Recruiting NCT03842943 Phase 2 Pembrolizumab;Talimogene Laherparepvec
42 A Phase II Randomized Trial of Intralesional Talimogene Laherparepvec (TALIMOGENE LAHERPAREPVEC) With or Without Radiotherapy for Cutaneous Melanoma, Merkel Cell Carcinoma, or Other Solid Tumors Recruiting NCT02819843 Phase 2 TALIMOGENE LAHERPAREPVEC (TVEC)
43 A Parallel Arm, Biomarker Driven, Phase II Trial to Determine the Role of Circulating Tumour DNA in Guiding a Switch Between Targeted Therapy and Immune Therapy in Patients With Advanced Cutaneous Melanoma Recruiting NCT03808441 Phase 2
44 An Open-label Phase Ib/II, Multi-center 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
45 Intralesional Sclerosant for in Transit and Cutaneous Melanoma Metastases Recruiting NCT03754140 Phase 2 Polidocanol Injection
46 Phase 2 Study With COmbination of Vemurafenib With Cobimetinib in B-RAF V600E/K Mutated Melanoma Patients to Normalize LDH and Optimize Nivolumab and Ipilimumab therapY Recruiting NCT02968303 Phase 2 Vemurafenib and Cobimetinib
47 A Phase I/II, Open-label, Two Part Study of GSK3359609 in Combination With Tremelimumab in Participants With Selected, Advanced Solid Tumors Active, not recruiting NCT03693612 Phase 2 feladilimab;Tremelimumab;Docetaxel;Paclitaxel;Cetuximab
48 A Phase II, Open-Label, Multicenter, Randomized Study of CDX-1401, a Dendritic Cell Targeting NY-ESO-1 Vaccine, in Patients With Malignant Melanoma Pre-treated With Recombinant CDX-301, a Recombinant Human Flt3 Ligand Active, not recruiting NCT02129075 Phase 2
49 A Randomized Phase II Trial of Ipilimumab With or Without Bevacizumab in Patients With Unresectable Stage III or Stage IV Melanoma Active, not recruiting NCT01950390 Phase 2
50 A Phase 1/2a Study to Evaluate the Safety, Tolerability, Immunogenicity, and Antitumor Activity of GEN-009 Adjuvanted Vaccine in Adult Patients With Selected Solid Tumors Active, not recruiting NCT03633110 Phase 1, Phase 2 Nivolumab;Pembrolizumab

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 1

Genetic Tests for Melanoma, Cutaneous Malignant 1

Genetic tests related to Melanoma, Cutaneous Malignant 1:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 1 29

Anatomical Context for Melanoma, Cutaneous Malignant 1

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 1:

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

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 517)
# Title Authors PMID Year
1
TERT promoter mutations in familial and sporadic melanoma. 57 6
23348503 2013
2
POT1 loss-of-function variants predispose to familial melanoma. 6 61
24686849 2014
3
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 61 6
24686846 2014
4
Novel and recurrent p14 mutations in Italian familial melanoma. 6 61
20132244 2010
5
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 61 57
19578365 2009
6
Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 61 6
15146471 2004
7
eMelanoBase: an online locus-specific variant database for familial melanoma. 57 61
12497626 2003
8
Germline mutation of ARF in a melanoma kindred. 61 6
12019208 2002
9
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 6 61
9699728 1998
10
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 6 61
9425228 1998
11
Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi. 57 61
8651266 1996
12
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. 6 61
8552158 1996
13
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 6 61
8528263 1996
14
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 6 61
8570179 1995
15
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 6 61
8595405 1995
16
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 61 6
7670475 1995
17
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. 61 6
7624155 1995
18
Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. 57 61
1531137 1992
19
Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome". 61 57
2929655 1989
20
Dysplastic nevus syndrome: a phenotypic association of sporadic cutaneous melanoma. 57 61
7427881 1980
21
Precursor lesions in familial melanoma. 57 61
635599 1978
22
Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. 61 57
621895 1978
23
Familial melanoma. 57 61
5934369 1966
24
Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma. 57
30385465 2018
25
Exosomal PD-L1 contributes to immunosuppression and is associated with anti-PD-1 response. 57
30089911 2018
26
Mutations in the promoter of the telomerase gene TERT contribute to tumorigenesis by a two-step mechanism. 57
28818973 2017
27
Whole-genome landscapes of major melanoma subtypes. 57
28467829 2017
28
A PGC1α-mediated transcriptional axis suppresses melanoma metastasis. 57
27580028 2016
29
Recurrent inactivating RASA2 mutations in melanoma. 57
26502337 2015
30
Genetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma. 57
26559592 2015
31
Anticancer immunotherapy by CTLA-4 blockade relies on the gut microbiota. 57
26541610 2015
32
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. 57
26359337 2015
33
Genetic basis for clinical response to CTLA-4 blockade in melanoma. 57
25409260 2014
34
Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53. 57
24919155 2014
35
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 57
24670642 2014
36
Ultraviolet-radiation-induced inflammation promotes angiotropism and metastasis in melanoma. 57
24572365 2014
37
A melanocyte lineage program confers resistance to MAP kinase pathway inhibition. 57
24185007 2013
38
Highly recurrent TERT promoter mutations in human melanoma. 57
23348506 2013
39
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 57
23302800 2013
40
Widespread potential for growth-factor-driven resistance to anticancer kinase inhibitors. 57
22763448 2012
41
Tumour micro-environment elicits innate resistance to RAF inhibitors through HGF secretion. 57
22763439 2012
42
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. 6
22636603 2012
43
Melanoma genome sequencing reveals frequent PREX2 mutations. 57
22622578 2012
44
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 57
22197931 2011
45
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing. 57
22197930 2011
46
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma. 57
21946352 2011
47
Neonatal UVB exposure accelerates melanoma growth and enhances distant metastases in Hgf-Cdk4(R24C) C57BL/6 mice. 57
21207411 2011
48
Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 57
21639808 2011
49
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. 57
21499247 2011
50
DHODH modulates transcriptional elongation in the neural crest and melanoma. 57
21430780 2011

Variations for Melanoma, Cutaneous Malignant 1

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 1:

6 (show top 50) (show all 1552)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1):c.809G>A (p.Ser270Asn) SNV Pathogenic, risk factor 139525 rs587777477 7:124493086-124493086 7:124853032-124853032
2 CDKN2A NM_058197.4(CDKN2A):c.*148_*166del Deletion Pathogenic 182411 rs730881674 9:21971115-21971133 9:21971116-21971134
3 CDK4 NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) SNV Pathogenic 16928 rs11547328 12:58145431-58145431 12:57751648-57751648
4 CDKN2A NM_000077.4(CDKN2A):c.-34G>T SNV Pathogenic 182414 rs1800586 9:21974860-21974860 9:21974861-21974861
5 CDKN2A NM_000077.4(CDKN2A):c.142C>A (p.Pro48Thr) SNV Pathogenic 188286 rs786204195 9:21974685-21974685 9:21974686-21974686
6 CDKN2A NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) SNV Pathogenic 9412 rs104894094 9:21971057-21971057 9:21971058-21971058
7 CDK4 NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) SNV Pathogenic 16928 rs11547328 12:58145431-58145431 12:57751648-57751648
8 CDKN2A NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) SNV Pathogenic 216035 rs45476696 9:21970901-21970901 9:21970902-21970902
9 CDKN2A-DT NC_000009.12:g.(?_21967752)_(21975133_?)del Deletion Pathogenic 417813 9:21967752-21975133
10 CDKN2A NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) SNV Pathogenic 9414 rs104894095 9:21971199-21971199 9:21971200-21971200
11 CDKN2A NM_000077.4(CDKN2A):c.148C>T (p.Gln50Ter) SNV Pathogenic 220711 rs864622636 9:21974679-21974679 9:21974680-21974680
12 CDKN2A NM_000077.4(CDKN2A):c.47T>G (p.Leu16Arg) SNV Pathogenic 219815 rs864622263 9:21974780-21974780 9:21974781-21974781
13 CDKN2A NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) SNV Pathogenic 9420 rs104894098 9:21970981-21970981 9:21970982-21970982
14 CDKN2A NM_000077.4(CDKN2A):c.260G>C (p.Arg87Pro) SNV Pathogenic 236984 rs878853647 9:21971098-21971098 9:21971099-21971099
15 CDKN2A NM_058195.3(CDKN2A):c.194-3573_194-3570del Microsatellite Pathogenic 142061 rs587782206 9:21974777-21974780 9:21974778-21974781
16 CDKN2A NM_058197.4(CDKN2A):c.*163_*176del Deletion Pathogenic 182412 rs730881675 9:21971105-21971118 9:21971106-21971119
17 CDKN2A NM_000077.4(CDKN2A):c.358del (p.Glu120fs) Deletion Pathogenic 406710 rs1060501263 9:21971000-21971000 9:21971001-21971001
18 CDKN2A NM_000077.4(CDKN2A):c.-19311G>A SNV Pathogenic 406708 rs1060501262 9:21994137-21994137 9:21994138-21994138
19 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) SNV Pathogenic 9415 rs104894097 9:21974756-21974756 9:21974757-21974757
20 CDKN2A NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) SNV Pathogenic 9425 rs104894109 9:21971191-21971191 9:21971192-21971192
21 CDKN2A NM_058195.3(CDKN2A):c.194-3518dup Duplication Pathogenic 92427 rs398123152 9:21974720-21974721 9:21974721-21974722
22 CDKN2A NM_058195.3(CDKN2A):c.194-3590del Deletion Pathogenic 463496 rs1554656624 9:21974797-21974797 9:21974798-21974798
23 CDKN2A NC_000009.12:g.(?_21970896)_(21974833_?)del Deletion Pathogenic 463460 9:21970895-21974832 9:21970896-21974833
24 CDKN2A NM_000077.4(CDKN2A):c.79G>T (p.Glu27Ter) SNV Pathogenic 463512 rs1554656411 9:21974748-21974748 9:21974749-21974749
25 CDKN2A NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) SNV Pathogenic 9423 rs104894099 9:21971182-21971182 9:21971183-21971183
26 CDKN2A NM_058197.4(CDKN2A):c.*206del Deletion Pathogenic 463493 rs1554654052 9:21971075-21971075 9:21971076-21971076
27 CDKN2A NC_000009.12:g.(?_21994140)_(21994331_?)del Deletion Pathogenic 463461 9:21994139-21994330 9:21994140-21994331
28 CDKN2A NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) SNV Pathogenic 233484 rs876660436 9:21971024-21971024 9:21971025-21971025
29 CDKN2A NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) SNV Pathogenic 376310 rs121913387 9:21971186-21971186 9:21971187-21971187
30 CDKN2A NM_000077.4(CDKN2A):c.132del (p.Ser43_Tyr44insTer) Deletion Pathogenic 429111 rs1131691187 9:21974695-21974695 9:21974696-21974696
31 CDKN2A NM_058195.3(CDKN2A):c.193+5G>A SNV Pathogenic 141882 rs587782083 9:21994133-21994133 9:21994134-21994134
32 CDKN2A NM_000077.4(CDKN2A):c.159G>A (p.Met53Ile) SNV Pathogenic 532294 rs104894095 9:21971199-21971199 9:21971200-21971200
33 CDKN2A NM_000077.4(CDKN2A):c.44G>A (p.Trp15Ter) SNV Pathogenic 230421 rs876658556 9:21974783-21974783 9:21974784-21974784
34 CDKN2A NM_000077.4(CDKN2A):c.260G>C (p.Arg87Pro) SNV Pathogenic 236984 rs878853647 9:21971098-21971098 9:21971099-21971099
35 CDKN2A NM_058195.3(CDKN2A):c.97dup (p.Glu33fs) Duplication Pathogenic 571028 rs779306249 9:21994233-21994234 9:21994234-21994235
36 CDKN2A NM_058197.4(CDKN2A):c.*120dup Duplication Pathogenic 571109 rs1563889847 9:21971160-21971161 9:21971161-21971162
37 CDKN2A NM_000077.4(CDKN2A):c.131dup (p.Tyr44Ter) Duplication Pathogenic 483336 rs730881673 9:21974695-21974696 9:21974696-21974697
38 CDKN2A NM_001363763.2(CDKN2A):c.-4+547del Deletion Pathogenic 576650 rs1563902931 9:21994273-21994273 9:21994274-21994274
39 CDKN2A NM_058195.3(CDKN2A):c.97G>T (p.Glu33Ter) SNV Pathogenic 581437 rs1287464120 9:21994234-21994234 9:21994235-21994235
40 CDKN2A NC_000009.12:g.(?_21968219)_(21994341_?)del Deletion Pathogenic 583687 9:21968218-21994340 9:21968219-21994341
41 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) SNV Pathogenic 9415 rs104894097 9:21974756-21974756 9:21974757-21974757
42 CDKN2A NM_000077.4(CDKN2A):c.-34G>T SNV Pathogenic 182414 rs1800586 9:21974860-21974860 9:21974861-21974861
43 CDKN2A NM_058195.3(CDKN2A):c.194-3551del Deletion Pathogenic 572398 rs1563892715 9:21974758-21974758 9:21974759-21974759
44 CDKN2A NM_058197.4(CDKN2A):c.*112del Deletion Pathogenic 644262 rs1587332338 9:21971169-21971169 9:21971170-21971170
45 CDKN2A NM_000077.4(CDKN2A):c.47T>C (p.Leu16Pro) SNV Pathogenic 649266 rs864622263 9:21974780-21974780 9:21974781-21974781
46 STK11 NM_000455.4(STK11):c.508C>T (p.Gln170Ter) SNV Pathogenic 7455 rs121913323 19:1220415-1220415 19:1220416-1220416
47 STK11 NM_000455.4(STK11):c.145T>G (p.Tyr49Asp) SNV Pathogenic 7456 rs137853080 19:1207057-1207057 19:1207058-1207058
48 STK11 NM_000455.4(STK11):c.403G>C (p.Gly135Arg) SNV Pathogenic 7457 rs137853081 19:1219351-1219351 19:1219352-1219352
49 STK11 NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) SNV Pathogenic 7450 rs121913315 19:1220487-1220487 19:1220488-1220488
50 CDKN2A NM_000077.4(CDKN2A):c.132C>A (p.Tyr44Ter) SNV Pathogenic 655275 rs1554656253 9:21974695-21974695 9:21974696-21974696

Cosmic variations for Melanoma, Cutaneous Malignant 1:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 3
2 COSM93665204 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 3
3 COSM93539965 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 3
4 COSM93692305 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 3
5 COSM93519256 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 3
6 COSM88321369 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 3
7 COSM99100400 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
8 COSM99100596 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
9 COSM89609735 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
10 COSM135206415 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
11 COSM135217389 GRIN2A skin,ear,malignant melanoma,NS c.3773-19C>T p.? 16:9763447-9763447 3
12 COSM131440106 GRIN2A skin,ear,malignant melanoma,NS c.1548G>A p.M516I 16:9829471-9829471 3
13 COSM89609531 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 3
14 COSM135206628 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 3
15 COSM89621238 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 3
16 COSM99112008 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 3
17 COSM131447592 GRIN2A skin,ear,malignant melanoma,NS c.3362-19C>T p.? 16:9763447-9763447 3
18 COSM131440017 GRIN2A skin,ear,malignant melanoma,NS c.2806G>A p.E936K 16:9764327-9764327 3
19 COSM97223158 CNR1 skin,ear,malignant melanoma,NS c.103+42C>T p.? 6:88145130-88145130 3
20 COSM152018575 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
21 COSM108059286 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
22 COSM117327995 CNR1 skin,ear,malignant melanoma,NS c.63-17C>T p.? 6:88145130-88145130 3
23 COSM96983478 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
24 COSM96990932 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 3
25 COSM87493313 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 3
26 COSM144455643 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 3
27 COSM149414554 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 3
28 COSM150563774 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 3
29 COSM150564452 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 3
30 COSM88812698 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 3
31 COSM118795694 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 3
32 COSM88803061 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 3
33 COSM118813778 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 3
34 COSM88806346 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 3
35 COSM118790577 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 3
36 COSM150570620 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 3
37 COSM150565869 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 3
38 COSM118787231 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 3
39 COSM150585368 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 3
40 COSM149385292 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 3
41 COSM149386940 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 3
42 COSM149388933 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 3
43 COSM88834639 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 3
44 COSM118788384 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 3
45 COSM149394818 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 3
46 COSM88804430 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 3

Copy number variations for Melanoma, Cutaneous Malignant 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 15007 1 111800000 116100000 Amplification NRAS Cutaneous malignant melanoma
2 30467 1 243700000 249250621 Copy number AKT3 Cutaneous malignant melanoma
3 47154 10 89613174 89718512 Loss PTEN Cutaneous malignant melanoma
4 226597 7 59900000 159138663 Amplification BRAF Cutaneous malignant melanoma

Expression for Melanoma, Cutaneous Malignant 1

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 1.

Pathways for Melanoma, Cutaneous Malignant 1

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 TERT TERF2IP POT1 CDKN2B CDKN2A CDK4
2
Show member pathways
12.95 TERF2IP POT1 CDKN2B CDKN2A CDK4 ACD
3
Show member pathways
12.65 NRAS MITF MC1R CDKN2B CDKN2A CDK4
4
Show member pathways
12.56 TERT NRAS CDKN2B CDKN2A CDK4
5
Show member pathways
12.46 NRAS MITF CDKN2B CDKN2A CDK4
6 12.46 TERT NRAS MITF CDKN2B CDKN2A CDK4
7
Show member pathways
12.4 TERT TERF2IP POT1 ACD
8
Show member pathways
12.32 TERF2IP POT1 CDK4 ACD
9 12.24 TERF2IP MGMT CDKN2A CDK4 ACD
10 12.09 NRAS CDKN2B CDKN2A CDK4
11 11.93 NRAS CDKN2B CDKN2A CDK4
12 11.69 TERT NRAS CDKN2B CDKN2A CDK4
13 11.55 NRAS CDKN2A CDK4
14 11.5 NRAS MGMT CDKN2A CDK4
15
Show member pathways
11.03 TERT TERF2IP POT1
16 11 CDKN2B CDKN2A CDK4
17 10.74 TERT TERF2IP POT1 ACD

GO Terms for Melanoma, Cutaneous Malignant 1

Cellular components related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10 XRCC3 TERT TERF2IP STK11 POT1 MITF
2 chromosome, telomeric region GO:0000781 9.55 XRCC3 TERT TERF2IP POT1 ACD
3 shelterin complex GO:0070187 9.13 TERF2IP POT1 ACD
4 nuclear telomere cap complex GO:0000783 8.92 TERT TERF2IP POT1 ACD

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.58 CDKN2B CDKN2A CDK4
2 negative regulation of phosphorylation GO:0042326 9.48 CDKN2B CDKN2A
3 replicative senescence GO:0090399 9.46 TERT CDKN2A
4 telomere maintenance GO:0000723 9.46 TERT TERF2IP POT1 ACD
5 protein localization to chromosome, telomeric region GO:0070198 9.43 TERF2IP ACD
6 telomere capping GO:0016233 9.43 TERF2IP POT1 ACD
7 protection from non-homologous end joining at telomere GO:0031848 9.37 TERF2IP ACD
8 telomere assembly GO:0032202 9.32 POT1 ACD
9 establishment of protein localization to telomere GO:0070200 9.13 TERT POT1 ACD
10 telomere maintenance via telomerase GO:0007004 8.92 TERT TERF2IP POT1 ACD

Molecular functions related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.16 CDKN2B CDKN2A
2 G-rich strand telomeric DNA binding GO:0098505 8.96 TERF2IP POT1
3 telomeric DNA binding GO:0042162 8.92 TERT TERF2IP POT1 ACD

Sources for Melanoma, Cutaneous Malignant 1

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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