CMM1
MCID: MLN066
MIFTS: 65

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 70
Dysplastic Nevus Syndrome, Hereditary 57
Melanoma, Cutaneous Malignant; Cmm 57
Melanoma, Cutaneous Malignant 57
Dysplastic Nevus Syndrome 70
Melanoma, Familial; Mlm 57
Melanoma, Malignant 57
Hereditary Melanoma 70
Melanoma, Familial 57
Cutaneous Melanoma 70
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 20-May-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 71 C2314896
Orphanet 58 ORPHA618
MedGen 41 C1835047
UMLS 70 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 20-May-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 1, also known as familial melanoma, is related to melanoma, cutaneous malignant 6 and skin melanoma. An important gene associated with Melanoma, Cutaneous Malignant 1 is STK11 (Serine/Threonine Kinase 11), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence (REACTOME). The drugs BCG vaccine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and lymph node, 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 178)
# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 6 33.4 XRCC3 KLC1
2 skin melanoma 32.7 TERT TERF2IP STK11 NRAS MITF MC1R
3 acral lentiginous melanoma 32.4 TERT NRAS MC1R CDKN2A BRAF
4 dysplastic nevus syndrome 32.4 STK11 CMM CDKN2A
5 hereditary melanoma 32.3 CMM CDKN2A CDK4
6 melanocytic nevus syndrome, congenital 32.3 STK11 NRAS MC1R
7 melanoma 31.0 XRCC3 TERT STK11 POT1 NRAS MITF
8 melanoma-astrocytoma syndrome 31.0 CDKN2B-AS1 CDKN2B CDKN2A
9 ocular melanoma 31.0 TERT NRAS MC1R CDKN2A BAP1
10 malignant astrocytoma 30.9 TERT MGMT CDKN2A CDK4 BRAF
11 nodular malignant melanoma 30.9 NRAS MITF MC1R CDKN2A CDK4 BRAF
12 lentigines 30.9 MC1R BRAF
13 adenocarcinoma 30.8 STK11 CDKN2B CDKN2A CDK4 BRAF
14 basal cell carcinoma 30.7 XRCC3 TERT MC1R CDKN2B-AS1 CDKN2B CDKN2A
15 li-fraumeni syndrome 30.7 TERT STK11 CDKN2B CDKN2A CDK4
16 glioblastoma 30.6 TERT NRAS MGMT CDKN2B CDKN2A CDK4
17 bladder cancer 30.6 XRCC3 TERT NRAS CDKN2B-AS1 CDKN2B CDKN2A
18 esophageal cancer 30.5 TERT MGMT CDKN2B-AS1 CDKN2B CDKN2A CDK4
19 actinic keratosis 30.5 MITF MC1R CDKN2B CDKN2A
20 skin carcinoma 30.4 XRCC3 TERT STK11 NRAS MITF MC1R
21 melanoma in congenital melanocytic nevus 30.4 NRAS MITF MC1R CDKN2A CDK4 BRAF
22 differentiated thyroid carcinoma 30.4 XRCC3 TERT NRAS BRAF
23 diffuse astrocytoma 30.4 TERT MGMT BRAF
24 lentigo maligna melanoma 30.4 MITF MC1R
25 melanoma, uveal 30.4 TERT NRAS MITF MC1R CDKN2A CDK4
26 leukemia, chronic lymphocytic 30.3 POT1 NRAS CDKN2B CDK4 BRAF
27 melanoma, cutaneous malignant 3 11.7
28 melanoma, cutaneous malignant 5 11.7
29 melanoma, cutaneous malignant 9 11.7
30 melanoma, cutaneous malignant 10 11.7
31 mirror movements 1 11.7
32 melanoma, cutaneous malignant 4 11.5
33 skin/hair/eye pigmentation, variation in, 3 11.4
34 diabetic neuropathy 11.1
35 pancreatic cancer 11.0
36 melanoma, malignant familial intraocular 11.0
37 clear cell sarcoma 11.0
38 tumor predisposition syndrome 11.0
39 bap1 tumor predisposition syndrome 11.0
40 glial tumor 10.9
41 melanoma, cutaneous malignant 2 10.9
42 melanoma, cutaneous malignant 7 10.9
43 melanoma, cutaneous malignant 8 10.9
44 glioma 10.6 POT1 CDKN2B-AS1 CDKN2A CDK4 BRAF
45 lung benign neoplasm 10.6 TERT STK11 MGMT CDKN2A
46 spitzoid melanoma 10.6 TERT NRAS CDKN2A BRAF
47 mediastinum liposarcoma 10.6 CDKN2A CDK4
48 lip and oral cavity cancer 10.6 STK11 CDKN2A BRAF
49 mixed oligodendroglioma-astrocytoma 10.6 TERT MGMT CDKN2B
50 large congenital melanocytic nevus 10.6 NRAS MITF MC1R CDKN2A

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 20-May-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 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.8 BRAF CDK4 STK11

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
2 homeostasis/metabolism MP:0005376 10.3 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
3 hematopoietic system MP:0005397 10.26 BAP1 BRAF CDK4 CDKN2A CDKN2B MC1R
4 endocrine/exocrine gland MP:0005379 10.24 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
5 immune system MP:0005387 10.17 BAP1 BRAF CDK4 CDKN2A CDKN2B MC1R
6 mortality/aging MP:0010768 10.17 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
7 integument MP:0010771 10.14 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
8 digestive/alimentary MP:0005381 10.11 ACD BAP1 BRAF CDK4 CDKN2A NRAS
9 craniofacial MP:0005382 10.07 ACD BRAF CDK4 MC1R MITF NRAS
10 neoplasm MP:0002006 10 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
11 liver/biliary system MP:0005370 9.97 BRAF CDK4 CDKN2A MITF NRAS STK11
12 no phenotypic analysis MP:0003012 9.85 BAP1 CDKN2A CDKN2B MC1R MGMT MITF
13 pigmentation MP:0001186 9.56 ACD BRAF CDK4 CDKN2A MC1R MITF
14 reproductive system MP:0005389 9.32 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B

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
Melphalan Approved Phase 3 148-82-3 4053 460612
3
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
4
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
5
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
6
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
7
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
8
Molgramostim Investigational Phase 2, Phase 3 99283-10-0
9 Anti-Infective Agents Phase 3
10 Antiviral Agents Phase 3
11 Vaccines Phase 3
12 Immunologic Factors Phase 3
13 Immunosuppressive Agents Phase 3
14 Liver Extracts Phase 3
15 interferons Phase 3
16 Interferon alpha-2 Phase 3
17 Interferon-alpha Phase 3
18 Antineoplastic Agents, Immunological Phase 3
19 Alkylating Agents Phase 3
20
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
21
Trabectedin Approved, Investigational Phase 1, Phase 2 114899-77-3 108150
22
Vedolizumab Approved Phase 1, Phase 2 943609-66-3
23
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
24
Infliximab Approved Phase 1, Phase 2 170277-31-3
25
rituximab Approved Phase 2 174722-31-7 10201696
26
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
27
Propranolol Approved, Investigational Phase 1, Phase 2 525-66-6 4946
28
Polidocanol Approved Phase 2 9002-92-0
29
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
30
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
31
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
32
Trametinib Approved Phase 1, Phase 2 871700-17-3 11707110
33
Dabrafenib Approved, Investigational Phase 1, Phase 2 1195765-45-7 44462760 44516822
34
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
35
Hydroxychloroquine Approved Phase 2 118-42-3 3652
36
Bevacizumab Approved, Investigational Phase 2 216974-75-3
37
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
38
Ipilimumab Approved Phase 2 477202-00-9
39
nivolumab Approved Phase 2 946414-94-4
40
Betulinic acid Approved, Investigational Phase 1, Phase 2 472-15-1 64971
41
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
42
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
43
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
44
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
45
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
46
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
47
Fenretinide Investigational Phase 2 65646-68-6
48
Vatalanib Investigational Phase 2 212141-54-3 151194
49
Cortisone Experimental Phase 1, Phase 2 53-06-5 222786
50
Tremelimumab Investigational Phase 2 745013-59-6

Interventional clinical trials:

(show top 50) (show all 142)
# 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 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;Trametinib;Trametinib placebo
6 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
7 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
8 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
9 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
10 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
11 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
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 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
17 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
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 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
20 Evaluation of the Nutritional Supplement Oncoxin-Viusid® in the Treatment of 20 Patients With Cutaneous Melanoma in Stage IIB-IIIA Completed NCT03541148 Phase 2
21 A Phase II Study to Evaluate the Efficacy and Safety of PTK787 in Patients With Metastatic Cutaneous Melanoma Completed NCT00563823 Phase 2 vatalanib
22 Clinical Activity, Safety and Immunogenic Properties of Cancer Immunotherapeutic GSK2132231A in Patients With Unresectable and Progressive Metastatic Cutaneous Melanoma Completed NCT00896480 Phase 2
23 Evaluation of Cobimetinib + Vemurafenib Combination Treatment in Patients With Brain Metastasis BRAFV600 Mutated Cutaneous Melanoma Completed NCT02537600 Phase 2 Cobimetinib + Vemurafenib combination treatment
24 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
25 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
26 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
27 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
28 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
29 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
30 Role of Microbiome in the Realm of Immune-Checkpoint Inhibitor Induced GI Complications In Cancer Population Recruiting NCT03819296 Phase 1, Phase 2 Prednisone
31 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
32 Neoadjuvant Therapy for Patients With High Risk Stage III Melanoma: A Pilot Clinical Trial Recruiting NCT03554083 Phase 2 Atezolizumab;Cobimetinib;Vemurafenib
33 Neoadjuvant and Adjuvant Checkpoint Blockade in Patients With Clinical Stage III or Oligometastatic Stage IV Melanoma Recruiting NCT02519322 Phase 2
34 Altering Adjuvant Therapy Based on Pathologic Response to Neoadjuvant Dabrafenib and Trametinib (ALTER-PATH NeoDT) Recruiting NCT04310397 Phase 2 Dabrafenib;Trametinib
35 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
36 Neoadjuvant and Adjuvant Dabrafenib and Trametinib in Patients With Clinical Stage III Melanoma (Combi-Neo) Recruiting NCT02231775 Phase 2 Dabrafenib;Trametinib
37 Neoadjuvant Combination Immunotherapy for Stage III Melanoma Recruiting NCT03842943 Phase 2 Pembrolizumab;Talimogene Laherparepvec
38 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
39 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
40 A Phase II Trial of PD-L1 Therapy Combined With Anti-VEGF Therapy in Unresectable or Metastatic Melanoma Recruiting NCT04356729 Phase 2 Atezolizumab;Bevacizumab
41 Phase II Randomized Study of Neoadjuvant Pembrolizumab Alone or in Combination With CMP-001 in Patients With Operable Melanoma: Efficacy and Biomarker Study Recruiting NCT04708418 Phase 2 VLP-encapsulated TLR9 Agonist CMP-001
42 Diet and Immune Effects Trial: DIET- A Randomized Double Blinded Dietary Intervention Study in Patients With Metastatic Melanoma Receiving Immunotherapy Recruiting NCT04645680 Phase 2
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 Intralesional Sclerosant for in Transit and Cutaneous Melanoma Metastases Recruiting NCT03754140 Phase 2 Polidocanol Injection
45 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
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 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
49 Prostaglandin Inhibition and Programmed Cell Death Protein 1 (PD-1)/Cytotoxic T-lymphocyte-Associated Protein 4 (CTLA4) Blockade in Melanoma Active, not recruiting NCT03396952 Phase 2 Aspirin
50 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 Active, not recruiting NCT01644591 Phase 2

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 BRAF STK11

Anatomical Context for Melanoma, Cutaneous Malignant 1

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

40
Skin, Thyroid, Lymph Node, Pancreas, Eye, T Cells, Lung

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 621)
# Title Authors PMID Year
1
TERT promoter mutations in familial and sporadic melanoma. 6 57
23348503 2013
2
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations. 6 61
30291219 2020
3
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters. 61 6
29774366 2018
4
Characterization of melanoma susceptibility genes in high-risk patients from Central Italy. 61 6
28146043 2017
5
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. 61 6
27287845 2016
6
Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome. 61 6
26892650 2016
7
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? 61 6
26650572 2016
8
Novel CDKN2A mutations in Austrian melanoma patients. 6 61
26225579 2015
9
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. 6 61
24935963 2014
10
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 61 6
24686846 2014
11
POT1 loss-of-function variants predispose to familial melanoma. 61 6
24686849 2014
12
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 61 6
23190892 2013
13
Altered transcriptome signature of phenotypically normal skin fibroblasts heterozygous for CDKN2A in familial melanoma: relevance to early intervention. 61 6
23371019 2013
14
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 61 6
22841127 2012
15
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 6 61
21801156 2011
16
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 6 61
21893440 2011
17
EDNRB gene variants and melanoma risk in two southern European populations. 6 61
21507037 2011
18
Classifying variants of CDKN2A using computational and laboratory studies. 61 6
21462282 2011
19
Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. 6 61
20539244 2010
20
Novel and recurrent p14 mutations in Italian familial melanoma. 6 61
20132244 2010
21
Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation. 61 6
19712690 2009
22
CDKN2A mutations in melanoma families from Uruguay. 6 61
19523171 2009
23
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 61 57
19578365 2009
24
Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. 61 6
18025365 2007
25
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 61 6
17047042 2006
26
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability. 61 6
16169933 2006
27
Genetic susceptibility in familial melanoma from northeastern Italy. 61 6
15235029 2004
28
Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 6 61
15146471 2004
29
Germline splicing mutations of CDKN2A predispose to melanoma. 6 61
14508519 2003
30
eMelanoBase: an online locus-specific variant database for familial melanoma. 61 57
12497626 2003
31
Familial head and neck cancer: molecular analysis of a new clinical entity. 61 6
12352668 2002
32
Germline mutation of ARF in a melanoma kindred. 6 61
12019208 2002
33
Functional reassessment of P16 variants using a transfection-based assay. 6 61
10389768 1999
34
CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds. 6 61
9856841 1998
35
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 6 61
9699728 1998
36
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 61 6
9425228 1998
37
Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 6 61
10627132 1998
38
Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 61 6
8710906 1996
39
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 61 6
8668202 1996
40
Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi. 57 61
8651266 1996
41
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. 6 61
8552158 1996
42
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 6 61
8528263 1996
43
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 6 61
8570179 1995
44
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 61 6
8595405 1995
45
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 6 61
7670475 1995
46
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. 61 6
7624155 1995
47
Tumour-derived p16 alleles encoding proteins defective in cell-cycle inhibition. 61 6
7777061 1995
48
Mutations associated with familial melanoma impair p16INK4 function. 61 6
7647780 1995
49
Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. 61 6
7923152 1994
50
Germline p16 mutations in familial melanoma. 61 6
7987387 1994

Variations for Melanoma, Cutaneous Malignant 1

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 1:

6 (show top 50) (show all 1834)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POT1 NM_015450.3(POT1):c.809G>A (p.Ser270Asn) SNV Pathogenic, risk factor 139525 rs587777477 GRCh37: 7:124493086-124493086
GRCh38: 7:124853032-124853032
2 POT1 NM_015450.3(POT1):c.1227A>G (p.Pro409=) SNV Pathogenic 995804 GRCh37: 7:124481169-124481169
GRCh38: 7:124841115-124841115
3 STK11 NM_000455.4(STK11):c.508C>T (p.Gln170Ter) SNV Pathogenic 7455 rs121913323 GRCh37: 19:1220415-1220415
GRCh38: 19:1220416-1220416
4 STK11 NM_000455.4(STK11):c.145T>G (p.Tyr49Asp) SNV Pathogenic 7456 rs137853080 GRCh37: 19:1207057-1207057
GRCh38: 19:1207058-1207058
5 STK11 NM_000455.4(STK11):c.403G>C (p.Gly135Arg) SNV Pathogenic 7457 rs137853081 GRCh37: 19:1219351-1219351
GRCh38: 19:1219352-1219352
6 STK11 NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) SNV Pathogenic 7450 rs121913315 GRCh37: 19:1220487-1220487
GRCh38: 19:1220488-1220488
7 CDK4 NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) SNV Pathogenic 16928 rs11547328 GRCh37: 12:58145431-58145431
GRCh38: 12:57751648-57751648
8 CDKN2A NM_058197.4(CDKN2A):c.*148_*166del Deletion Pathogenic 182411 rs730881674 GRCh37: 9:21971115-21971133
GRCh38: 9:21971116-21971134
9 CDK4 NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) SNV Pathogenic 16928 rs11547328 GRCh37: 12:58145431-58145431
GRCh38: 12:57751648-57751648
10 CDKN2A NM_000077.4(CDKN2A):c.-34G>T SNV Pathogenic 182414 rs1800586 GRCh37: 9:21974860-21974860
GRCh38: 9:21974861-21974861
11 CDKN2A NM_000077.4(CDKN2A):c.142C>A (p.Pro48Thr) SNV Pathogenic 188286 rs786204195 GRCh37: 9:21974685-21974685
GRCh38: 9:21974686-21974686
12 CDKN2A NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) SNV Pathogenic 9412 rs104894094 GRCh37: 9:21971057-21971057
GRCh38: 9:21971058-21971058
13 CDKN2A and overlap with 1 gene(s) NC_000009.12:g.(?_21967752)_(21975133_?)del Deletion Pathogenic 417813 GRCh37:
GRCh38: 9:21967752-21975133
14 CDKN2A NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) SNV Pathogenic 216035 rs45476696 GRCh37: 9:21970901-21970901
GRCh38: 9:21970902-21970902
15 CDKN2A NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) SNV Pathogenic 9414 rs104894095 GRCh37: 9:21971199-21971199
GRCh38: 9:21971200-21971200
16 CDKN2A NM_000077.4(CDKN2A):c.148C>T (p.Gln50Ter) SNV Pathogenic 220711 rs864622636 GRCh37: 9:21974679-21974679
GRCh38: 9:21974680-21974680
17 CDKN2A NM_000077.4(CDKN2A):c.47T>G (p.Leu16Arg) SNV Pathogenic 219815 rs864622263 GRCh37: 9:21974780-21974780
GRCh38: 9:21974781-21974781
18 CDKN2A NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) SNV Pathogenic 9420 rs104894098 GRCh37: 9:21970981-21970981
GRCh38: 9:21970982-21970982
19 CDKN2A NM_000077.4(CDKN2A):c.260G>C (p.Arg87Pro) SNV Pathogenic 236984 rs878853647 GRCh37: 9:21971098-21971098
GRCh38: 9:21971099-21971099
20 CDKN2A NM_058195.3(CDKN2A):c.194-3573_194-3570del Microsatellite Pathogenic 142061 rs587782206 GRCh37: 9:21974777-21974780
GRCh38: 9:21974778-21974781
21 CDKN2A NM_058197.4(CDKN2A):c.*163_*176del Deletion Pathogenic 182412 rs730881675 GRCh37: 9:21971105-21971118
GRCh38: 9:21971106-21971119
22 CDKN2A NM_000077.4(CDKN2A):c.358del (p.Glu120fs) Deletion Pathogenic 406710 rs1060501263 GRCh37: 9:21971000-21971000
GRCh38: 9:21971001-21971001
23 CDKN2A NM_000077.4(CDKN2A):c.-19311G>A SNV Pathogenic 406708 rs1060501262 GRCh37: 9:21994137-21994137
GRCh38: 9:21994138-21994138
24 CDKN2A NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) SNV Pathogenic 9425 rs104894109 GRCh37: 9:21971191-21971191
GRCh38: 9:21971192-21971192
25 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) SNV Pathogenic 9415 rs104894097 GRCh37: 9:21974756-21974756
GRCh38: 9:21974757-21974757
26 CDKN2A NM_058195.3(CDKN2A):c.194-3590del Deletion Pathogenic 463496 rs1554656624 GRCh37: 9:21974797-21974797
GRCh38: 9:21974798-21974798
27 CDKN2A NM_058195.3(CDKN2A):c.194-3518dup Duplication Pathogenic 92427 rs398123152 GRCh37: 9:21974720-21974721
GRCh38: 9:21974721-21974722
28 CDKN2A NC_000009.12:g.(?_21970896)_(21974833_?)del Deletion Pathogenic 463460 GRCh37: 9:21970895-21974832
GRCh38: 9:21970896-21974833
29 CDKN2A NM_000077.4(CDKN2A):c.79G>T (p.Glu27Ter) SNV Pathogenic 463512 rs1554656411 GRCh37: 9:21974748-21974748
GRCh38: 9:21974749-21974749
30 CDKN2A NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) SNV Pathogenic 9423 rs104894099 GRCh37: 9:21971182-21971182
GRCh38: 9:21971183-21971183
31 CDKN2A NM_058197.4(CDKN2A):c.*206del Deletion Pathogenic 463493 rs1554654052 GRCh37: 9:21971075-21971075
GRCh38: 9:21971076-21971076
32 CDKN2A NC_000009.12:g.(?_21994140)_(21994331_?)del Deletion Pathogenic 463461 GRCh37: 9:21994139-21994330
GRCh38: 9:21994140-21994331
33 CDKN2A NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) SNV Pathogenic 233484 rs876660436 GRCh37: 9:21971024-21971024
GRCh38: 9:21971025-21971025
34 CDKN2A NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) SNV Pathogenic 376310 rs121913387 GRCh37: 9:21971186-21971186
GRCh38: 9:21971187-21971187
35 CDKN2A NM_000077.4(CDKN2A):c.132del (p.Ser43_Tyr44insTer) Deletion Pathogenic 429111 rs1131691187 GRCh37: 9:21974695-21974695
GRCh38: 9:21974696-21974696
36 CDKN2A NM_058195.3(CDKN2A):c.193+5G>A SNV Pathogenic 141882 rs587782083 GRCh37: 9:21994133-21994133
GRCh38: 9:21994134-21994134
37 CDKN2A NM_000077.4(CDKN2A):c.159G>A (p.Met53Ile) SNV Pathogenic 532294 rs104894095 GRCh37: 9:21971199-21971199
GRCh38: 9:21971200-21971200
38 CDKN2A NM_000077.4(CDKN2A):c.260G>C (p.Arg87Pro) SNV Pathogenic 236984 rs878853647 GRCh37: 9:21971098-21971098
GRCh38: 9:21971099-21971099
39 CDKN2A NM_000077.4(CDKN2A):c.44G>A (p.Trp15Ter) SNV Pathogenic 230421 rs876658556 GRCh37: 9:21974783-21974783
GRCh38: 9:21974784-21974784
40 CDKN2A NM_058195.3(CDKN2A):c.97dup (p.Glu33fs) Duplication Pathogenic 571028 rs779306249 GRCh37: 9:21994233-21994234
GRCh38: 9:21994234-21994235
41 CDKN2A NM_058197.4(CDKN2A):c.*120dup Duplication Pathogenic 571109 rs1563889847 GRCh37: 9:21971160-21971161
GRCh38: 9:21971161-21971162
42 CDKN2A NM_058195.3(CDKN2A):c.194-3551del Deletion Pathogenic 572398 rs1563892715 GRCh37: 9:21974758-21974758
GRCh38: 9:21974759-21974759
43 CDKN2A NM_001363763.2(CDKN2A):c.-4+547del Deletion Pathogenic 576650 rs1563902931 GRCh37: 9:21994273-21994273
GRCh38: 9:21994274-21994274
44 CDKN2A NM_058195.3(CDKN2A):c.97G>T (p.Glu33Ter) SNV Pathogenic 581437 rs1287464120 GRCh37: 9:21994234-21994234
GRCh38: 9:21994235-21994235
45 CDKN2A NM_000077.4(CDKN2A):c.131dup (p.Tyr44Ter) Duplication Pathogenic 483336 rs730881673 GRCh37: 9:21974695-21974696
GRCh38: 9:21974696-21974697
46 CDKN2A NC_000009.12:g.(?_21968219)_(21994341_?)del Deletion Pathogenic 583687 GRCh37: 9:21968218-21994340
GRCh38: 9:21968219-21994341
47 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) SNV Pathogenic 9415 rs104894097 GRCh37: 9:21974756-21974756
GRCh38: 9:21974757-21974757
48 CDKN2A NM_000077.4(CDKN2A):c.-34G>T SNV Pathogenic 182414 rs1800586 GRCh37: 9:21974860-21974860
GRCh38: 9:21974861-21974861
49 CDKN2A NM_058197.4(CDKN2A):c.*112del Deletion Pathogenic 644262 rs1587332338 GRCh37: 9:21971169-21971169
GRCh38: 9:21971170-21971170
50 CDKN2A NM_000077.4(CDKN2A):c.47T>C (p.Leu16Pro) SNV Pathogenic 649266 rs864622263 GRCh37: 9:21974780-21974780
GRCh38: 9:21974781-21974781

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 TERT TERF2IP POT1 CDKN2B CDKN2A CDK4
2
Show member pathways
12.97 TERF2IP POT1 CDKN2B CDKN2A CDK4 ACD
3
Show member pathways
12.58 TERT NRAS CDKN2B CDKN2A CDK4 BRAF
4
Show member pathways
12.47 NRAS MITF MC1R CDKN2B CDKN2A CDK4
5
Show member pathways
12.45 NRAS MITF CDKN2B CDKN2A CDK4 BRAF
6 12.35 TERF2IP MGMT CDKN2A CDK4 ACD
7
Show member pathways
12.34 TERF2IP POT1 CDK4 ACD
8 12.22 TERT NRAS MITF CDKN2B CDKN2A CDK4
9 12.15 NRAS CDKN2B CDKN2A CDK4
10 12.14 TERT NRAS CDKN2B CDKN2A CDK4
11 12.02 NRAS CDKN2B CDKN2A CDK4
12 12 XRCC3 STK11 CDK4 BRAF
13
Show member pathways
11.93 STK11 NRAS CDKN2B BRAF
14
Show member pathways
11.79 CDKN2B CDKN2A CDK4
15 11.49 NRAS CDKN2A CDK4 BRAF
16 11.38 TERT TERF2IP POT1 ACD
17 11.14 CDKN2B CDKN2A CDK4
18 11.07 NRAS MGMT CDKN2A CDK4 BRAF
19
Show member pathways
11.06 TERT TERF2IP POT1

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 replicative senescence GO:0090399 9.46 TERT CDKN2A
3 telomere maintenance GO:0000723 9.46 TERT TERF2IP POT1 ACD
4 protein localization to chromosome, telomeric region GO:0070198 9.43 TERF2IP ACD
5 telomere capping GO:0016233 9.43 TERF2IP POT1 ACD
6 protection from non-homologous end joining at telomere GO:0031848 9.37 TERF2IP ACD
7 telomere assembly GO:0032202 9.32 POT1 ACD
8 establishment of protein localization to telomere GO:0070200 9.13 TERT POT1 ACD
9 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
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