CMM10
MCID: MLN055
MIFTS: 52

Melanoma, Cutaneous Malignant 10 (CMM10)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 10

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 10:

Name: Melanoma, Cutaneous Malignant 10 56 73
Melanoma, Cutaneous Malignant, Susceptibility to, 10 56 29 6
Cmm10 56 73
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 39
Melanoma 43

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
melanoma, cutaneous malignant 10:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 56 615848
OMIM Phenotypic Series 56 PS155600
MeSH 43 D008545
SNOMED-CT via HPO 68 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 10

UniProtKB/Swiss-Prot : 73 Melanoma, cutaneous malignant 10: 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.

MalaCards based summary : Melanoma, Cutaneous Malignant 10, also known as melanoma, cutaneous malignant, susceptibility to, 10, is related to melanoma and melanoma, cutaneous malignant 1. An important gene associated with Melanoma, Cutaneous Malignant 10 is POT1 (Protection Of Telomeres 1). The drugs Vindesine and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and brain, and related phenotype is melanoma.

More information from OMIM: 615848 PS155600

Related Diseases for Melanoma, Cutaneous Malignant 10

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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1877)
# Related Disease Score Top Affiliating Genes
1 melanoma 13.0
2 melanoma, cutaneous malignant 1 12.8
3 melanoma, uveal 12.7
4 ocular melanoma 12.7
5 acral lentiginous melanoma 12.7
6 skin melanoma 12.7
7 melanoma-astrocytoma syndrome 12.6
8 nodular malignant melanoma 12.6
9 melanoma-pancreatic cancer syndrome 12.6
10 mucosal melanoma 12.6
11 melanoma, cutaneous malignant 8 12.6
12 digestive system melanoma 12.6
13 melanoma, cutaneous malignant 2 12.6
14 melanoma, cutaneous malignant 3 12.6
15 melanoma, cutaneous malignant 5 12.6
16 melanoma, cutaneous malignant 9 12.6
17 melanoma, cutaneous malignant 6 12.6
18 amelanotic melanoma 12.6
19 primary melanoma of the central nervous system 12.5
20 malignant spindle cell melanoma 12.5
21 superficial spreading melanoma 12.5
22 melanoma-associated retinopathy 12.5
23 melanoma, cutaneous malignant 4 12.5
24 melanoma, cutaneous malignant 7 12.5
25 lentigo maligna melanoma 12.4
26 melanoma in congenital melanocytic nevus 12.4
27 necrotic uveal melanoma 12.4
28 spitzoid melanoma 12.4
29 dysplastic nevus syndrome 12.3
30 malignant conjunctival melanoma 12.3
31 choroid spindle cell melanoma 12.3
32 iris spindle cell melanoma 12.3
33 hereditary melanoma 12.3
34 posterior uveal melanoma 12.3
35 mixed cell uveal melanoma 12.3
36 malignant anus melanoma 12.3
37 malignant choroid melanoma 12.3
38 esophagus melanoma 12.3
39 malignant iris melanoma 12.3
40 vulvar melanoma 12.3
41 malignant breast melanoma 12.3
42 meningeal melanoma 12.2
43 malignant ciliary body melanoma 12.2
44 spinal cord melanoma 12.2
45 epithelioid cell melanoma 12.2
46 gallbladder melanoma 12.2
47 malignant cornea melanoma 12.2
48 melanoma, uveal 2 12.2
49 melanoma, uveal 1 12.2
50 retinal melanoma 12.2

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 10:



Diseases related to Melanoma, Cutaneous Malignant 10

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 10

Human phenotypes related to Melanoma, Cutaneous Malignant 10:

31
# Description HPO Frequency HPO Source Accession
1 melanoma 31 HP:0002861

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
cutaneous malignant melanoma
possibly increased risk for other cancers

Clinical features from OMIM:

615848

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 10

Drugs for Melanoma, Cutaneous Malignant 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 636)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vindesine Approved, Investigational Phase 4 59917-39-4, 53643-48-4 40839
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
4
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
5
Infliximab Approved Phase 4 170277-31-3
6
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
9
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Aminolevulinic acid Approved Phase 4 106-60-5 137
12
Fluorouracil Approved Phase 4 51-21-8 3385
13
Menthol Approved Phase 4 2216-51-5 16666
14
Etanercept Approved, Investigational Phase 4 185243-69-0
15
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
16
Adalimumab Approved Phase 4 331731-18-1 16219006
17
Tofacitinib Approved, Investigational Phase 4 477600-75-2
18
Cabergoline Approved Phase 4 81409-90-7 54746
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Sunitinib Approved, Investigational Phase 4 557795-19-4, 341031-54-7 5329102
21
Theobromine Investigational Phase 4 83-67-0 5429
22
Epicatechin Investigational Phase 4 490-46-0, 35323-91-2 72276
23 Salicylates Phase 4
24 Antirheumatic Agents Phase 4
25 Gastrointestinal Agents Phase 4
26 Cyclosporins Phase 4
27 Psychotropic Drugs Phase 4
28 Antidepressive Agents Phase 4
29 Fibrin Tissue Adhesive Phase 4
30 Coagulants Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Viscosupplements Phase 4
33 Monoamine Oxidase Inhibitors Phase 4
34 Photosensitizing Agents Phase 4
35 Methyl 5-aminolevulinate Phase 4
36 Dopamine agonists Phase 4
37 Antiparkinson Agents Phase 4
38 Anesthetics Phase 4
39 Anesthetics, Local Phase 4
40 Daminozide Phase 4 1596-84-5
41 Protein Kinase Inhibitors Phase 4
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Timolol Approved Phase 3 26839-75-8 5478 33624
44
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
45
Bevacizumab Approved, Investigational Phase 3 216974-75-3
46
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
47
Ethanol Approved Phase 3 64-17-5 702
48
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
49
Sufentanil Approved, Investigational Phase 3 56030-54-7 41693
50
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158

Interventional clinical trials:

(show top 50) (show all 3053)
# Name Status NCT ID Phase Drugs
1 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Unknown status NCT02626065 Phase 4 Nivolumab
2 Standard Palliative Care Versus Standard Palliative Care Plus Polychemotherapy (CVD-Protocol) in the Second-Line Therapy of Distant Metastasized Malignant Melanoma Unknown status NCT00226473 Phase 4 Cisplatin, Vindesine, Dacarbazine (drugs)
3 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
4 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
5 Randomized Controlled Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer Unknown status NCT01038154 Phase 4 Pravastatin
6 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
7 An Open-Label, Single-Arm, Multicenter Study To Assess The Safety Of Vemurafenib In Patients With Braf V600 Mutation Positive Metastatic Melanoma In South Africa. Completed NCT01898585 Phase 4 Zelboraf
8 Neoadjuvant GM-CSF Treatment and Modulation of Immune Cell Profile of the SLN in Melanoma Completed NCT02451488 Phase 4 GM-CSF
9 Can We Miss Pigmented Lesions in Psoriasis Patients? Completed NCT01053819 Phase 4 etanercept
10 A Randomized, Open-Label Study to Compare the Rate of New Non-Melanoma Skin Cancer in Maintenance Renal Allograft Recipients Converted to a Sirolimus-based Regimen Versus Continuation of a Calcineurin Inhibitor-based Regimen Completed NCT00129961 Phase 4 sirolimus;cyclosporine or tacrolimus
11 Can Fibrin Sealant be Used to Reduce Post-operative Drainage Following Lymph Node Dissection: a Prospective Randomised Double Blind Trial. Completed NCT00324272 Phase 4 Fibrin Sealant (Tisseel) used in the Experimental Arm.
12 IL-2 Neuropsychiatric Symptoms: Mechanism and Prevention Completed NCT00352885 Phase 4 Escitalopram;Placebo;IL-2
13 Photodynamic Therapy for Melanoma Precursor Lesion Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion (BF-200 ALA) as a Light Sensitizing Cream Completed NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
14 An Open-Label Study Using the MedPulser Electroporation System to Treat Cutaneous and Subcutaneous Foci of Cancer Completed NCT00198276 Phase 4
15 Prospective, Controlled and Monocentric Study to Evaluate the Effects of Topical 3% Diclofenac in 2.5% Hyaluronic Acid Gel on Tumor Metabolism in the Treatment of Actinic Keratoses in Immunocompetent and Immunocompromised Patients Completed NCT01935531 Phase 4 3% diclofenac in 2.5% hyaluronic acid gel
16 Treatment of AKs With Daylight-PDT: Comparing Two Photosensitizers (BF-200 ALA and MAL) Completed NCT01893203 Phase 4 BF-200 ALA cream;MAL cream
17 A Prospective, Randomized Trial Comparing Surgery Versus Radiosurgery for the Treatment of Metastatic Brain Tumors Completed NCT00075166 Phase 4
18 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease. Completed NCT00640159 Phase 4 Zelapar
19 An Evaluation of the Efficacy of the Tumor Necrosis Factor-alpha Antagonist Infliximab in Treatment Resistant Major Depression: Mechanisms and Mediators Completed NCT00463580 Phase 4 Infliximab;Placebo
20 A Comparison of Polyglactin 910 and Chromic Gut Suture in the Closure of Punch Biopsy Sites Completed NCT01722994 Phase 4
21 Open Label, Multi-center Roll-over Study to Assess Long Term Safety in Patients Who Have Completed a Global Novartis or GSK Sponsored Dabrafenib and/or Trametinib Study Recruiting NCT03340506 Phase 4 dabrafenib;trametinib
22 A Prospective, Open-label, Phase 4 Study to Evaluate the Safety of Pembrolizumab (KEYTRUDA®) in Subjects With Unresectable or Metastatic Melanoma or PD-L1 Positive Non-small Cell Lung Cancer (NSCLC) in India (Keynote-593) Recruiting NCT03715205 Phase 4 Pembrolizumab
23 Elderly Cancer PatIents Treated for Advanced or Metastatic Melanoma or NSCLC, Safety and qualiTy of Life Under immunOtheraPies: a Phase IV Trial Recruiting NCT03673332 Phase 4 immune-checkpoint inhibitors therapies
24 A Randomised Double Blind, Placebo Controlled Study of the Efficacy of Topical Menthol for Pain Relief During Topical Photodynamic Therapy Recruiting NCT02984072 Phase 4 Menthol;Aqueous Cream
25 Surgical Excision Versus Photodynamic Therapy and Topical 5-fluorouracil in Treatment of Bowen's Disease: a Multicenter Randomized Controlled Trial Recruiting NCT03909646 Phase 4 Methyl Aminolevulinate (Mal) for Topical Administration, 16.8%, 1 Gram;5Fluorouracil
26 Phase IV Ipilimumab in Melanoma: A National, Multicenter, Interventional Study in Patients With Unresectable or Metastatic Melanoma Active, not recruiting NCT02068196 Phase 4 Ipilimumab
27 PHASE 3B/4 RANDOMIZED SAFETY ENDPOINT STUDY OF 2 DOSES OF TOFACITINIB IN COMPARISON TO A TUMOR NECROSIS FACTOR (TNF) INHIBITOR IN SUBJECTS WITH RHEUMATOID ARTHRITIS Active, not recruiting NCT02092467 Phase 4 tofacitinib;tofacitinib
28 An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment Active, not recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
29 COcoa Supplement and Multivitamin Outcomes Study Active, not recruiting NCT02422745 Phase 4
30 Influenza Vaccine Responses in the Setting of Melanoma Treatment Enrolling by invitation NCT03315975 Phase 4
31 An Exploratory Prospective, Open-label, Unicentric Study With Cross-over Design, Comparing Lymphoseek® vs. Albumin Nanocolloid for Image- Guided Sentinel Lymph Node Mapping in Head and Neck, Melanoma and Breast Cancer. Not yet recruiting NCT04261179 Phase 4 Lymphoseek;Nanocoll
32 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting Programmed Cell Death 1 (PD-1) Not yet recruiting NCT03313544 Phase 4 Nivolumab
33 Randomized Trial of Bupivacaine as Adjuvant for Post-operative Pain in Mohs Micrographic Surgery Not yet recruiting NCT04362566 Phase 4 Bupivacaine
34 Open-Label, Randomized, Multi-Center Study Comparing the Sequence of High Dose Aldesleukin (Interleukin-2) and Ipilimumab (Yervoy) in Patients With Metastatic Melanoma Terminated NCT01856023 Phase 4 High Dose Interleukin-2;Ipilimumab
35 A Multi-Center Study of High Dose Aldesleukin (Interleukin-2) + Vemurafenib Therapy in Patients With BRAFV600 Mutation Positive Metastatic Melanoma Terminated NCT01683188 Phase 4 vemurafenib + HD IL-2
36 A Study of Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma With Sunitinib BEFORE and AFTER Nephrectomy Terminated NCT00930345 Phase 4 Sunitinib (SUTENT)
37 Phase II GENIUS Trial of GENetically-Informed Therapies for Patients With previoUSly Treated Refractory Metastatic Cancer Withdrawn NCT02000739 Phase 4
38 A Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Plus BCG Versus Placebo Plus BCG as a Post-Surgical Treatment for Stage IV Melanoma Unknown status NCT00052156 Phase 3
39 Phase III Randomized Double-Blind Pivotal Trial of Immunotherapy With BCG Plus a Polyvalent Melanoma Vaccine, CancerVax™ Vaccine Versus BCG Plus a Placebo as a Post-Surgical Treatment for Stage III Melanoma Unknown status NCT00052130 Phase 3
40 Immunotherapy of Colon Cancer With Autologous Perchloric Soluble Tumors Extracts Unknown status NCT00002455 Phase 3
41 PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA Unknown status NCT00002767 Phase 3
42 Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma. Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
43 POST-OPERATIVE ADJUVANT INTERFERON-ALFA-2B (INTRON-A) TREATMENT AFTER RESECTION OF THICK PRIMARY MELANOMA AND/OR REGIONAL LYMPHNODE METASTASES 'INTERMEDIATE-HIGH DOSE' VS INTERMEDIATE-LOW DOSE' IFN-ALFA VS OBSERVATION: A 3-ARM MULTICENTER RANDOMIZED PHASE III TRIAL Unknown status NCT00002763 Phase 3
44 Allogeneic Vaccine Modified to Express HLA A2/4-1BB Ligand for High Risk or Low Residual Disease Melanoma Patients Unknown status NCT01861938 Phase 2, Phase 3
45 PEG-Intron Observation After Regional Lymph Node Dissection in AJCC Stage III (TxN1-2MO) Melanoma Patients: a Randomized Phase III Trial Unknown status NCT00006249 Phase 3
46 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
47 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
48 A Pivotal Phase III, Open-label, Randomized, Controlled Multi-center Study of the Efficacy of L19IL2/L19TNF Neoadjuvant Intratumoral Treatment Followed by Surgery Versus Surgery Alone in Clinical Stage III B/C Melanoma Patients Unknown status NCT02938299 Phase 3 L19IL2 + L19TNF
49 A Multicenter, Randomized, Controlled, Phase III Trial Comparing High-Dose IFN-a2b With Temozolomide Plus Cisplatin as Systemic Adjuvant Therapy for Resected Mucosal Melanoma Unknown status NCT03435302 Phase 3 Temozolomide Plus Cisplatin;High-Dose IFN-a2b
50 A Phase III, Multi-Center Controlled Trial With Stratified Randomization Comparing The Efficacy Of Interleukin-2 (IL-2) Plus Histamine Dihydrochloride (HDC) Versus IL-2 Alone To Increase The Duration Of Survival In Patients With AJCC Stage IV Malignant Melanoma With Hepatic Metastasis Unknown status NCT00039234 Phase 3 histamine dihydrochloride

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 10

Cochrane evidence based reviews: melanoma

Genetic Tests for Melanoma, Cutaneous Malignant 10

Genetic tests related to Melanoma, Cutaneous Malignant 10:

# Genetic test Affiliating Genes
1 Melanoma, Cutaneous Malignant, Susceptibility to, 10 29 POT1

Anatomical Context for Melanoma, Cutaneous Malignant 10

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 10:

40
Skin, Lymph Node, Brain, Lung, T Cells, Breast, Testes

Publications for Melanoma, Cutaneous Malignant 10

Articles related to Melanoma, Cutaneous Malignant 10:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 61 6 56
24686846 2014
2
POT1 loss-of-function variants predispose to familial melanoma. 61 6 56
24686849 2014
3
SLC45A2: a novel malignant melanoma-associated gene. 6 61
18563784 2008
4
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
5
New common variants affecting susceptibility to basal cell carcinoma. 6
19578363 2009
6
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. 6
18683857 2008
7
A genomewide association study of skin pigmentation in a South Asian population. 6
17999355 2007
8
Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. 6
17044855 2006
9
Construction of immune-related risk signature for uveal melanoma. 61
32496920 2020
10
Biodistribution studies of boronophenylalanine in different types of skin melanoma. 61
32561053 2020
11
Prevalence and correlates of skin self-examination practices among cutaneous malignant melanoma survivors. 61
32461880 2020
12
Radiobiology data of melanoma cells after low-energy neutron irradiation and boron compound administration. 61
32392166 2020
13
Folate-induced nanostructural changes of oligochitosan nanoparticles and their fate of cellular internalization by melanoma. 61
32536388 2020
14
ZEB and Snail expression indicates epithelial-mesenchymal transition in canine melanoma. 61
32278962 2020
15
Integrin linked kinase regulates endosomal recycling of N-cadherin in melanoma cells. 61
32305668 2020
16
22β-hydroxytingenone reduces proliferation and invasion of human melanoma cells. 61
32360863 2020
17
Burden of melanoma in China, 1990-2017: Findings from the 2017 global burden of disease study. 61
31671209 2020
18
Antitumor effect of cell therapy with mesenchymal stem cells on murine melanoma B16-F10. 61
32485571 2020
19
Sun exposure and protection behaviors in urban and rural long-term melanoma survivors. 61
31845013 2020
20
Extensive vitiligo associated to response to c-kit inhibitor in metastatic mucosal melanoma. 61
32011367 2020
21
Recurrent checkpoint inhibitor-induced warm agglutinin autoimmune hemolytic anemia in a patient with metastatic melanoma. 61
32243616 2020
22
Novel Targets in Melanoma: Intralesional and Combination Therapy to Manipulate the Immune Response. 61
32482321 2020
23
Leptomeningeal disease in melanoma patients: An update to treatment, challenges, and future directions. 61
31916400 2020
24
Paradigms of vascularization in melanoma: Clinical significance and potential for therapeutic targeting. 61
32334374 2020
25
T-cell receptor diversity as a prognostic biomarker in melanoma patients. 61
31971658 2020
26
Association between tumor characteristics and second primary cancers with cutaneous melanoma survival: A nationwide cohort study. 61
32012479 2020
27
Genomic analysis of metastatic melanoma in an adult with giant congenital melanocytic nevus. 61
32096295 2020
28
Trauma and foreign bodies may favour the onset of melanoma metastases. 61
32086961 2020
29
Difference in biophysical properties of cancer-initiating cells in melanoma mutated zebrafish. 61
32364948 2020
30
NLRC4 inflammasome activation is NLRP3- and phosphorylation-independent during infection and does not protect from melanoma. 61
32342103 2020
31
Margins of Melanoma Excision and Modifications to Standards. 61
32482312 2020
32
Reconstructive Techniques in Melanoma for the Surgical Oncologist. 61
32482313 2020
33
Protective role of mouse mast cell tryptase Mcpt6 in melanoma. 61
31894627 2020
34
Regressive melanoma in a female patient: A case report. 61
32508999 2020
35
Benserazide is a novel inhibitor targeting PKM2 for melanoma treatment. 61
31652354 2020
36
RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion. 61
31978414 2020
37
Evaluating the quality of reporting of melanoma prediction models. 61
32448593 2020
38
Treatments and associated outcomes of acral lentiginous melanoma: A review. 61
31738961 2020
39
Robot-assisted restorative proctectomy with coloanal anastomosis for anorectal malignant melanoma: An unusual case report. 61
31793454 2020
40
Melanoma Characteristics in Patients with a History of UV Tanning Bed Usage. 61
32028781 2020
41
Tanshinol inhibits growth of malignant melanoma cells via regulating miR-1207-5p/CHPF pathway. 61
31828417 2020
42
Simultaneous endocrine expression and loss of melanoma markers in malignant melanoma metastases, a retrospective analysis. 61
31654227 2020
43
Orthopaedic Manifestations of Melanoma and Their Management. 61
32097135 2020
44
Interpretation of the Complex Melanoma Pathology Report. 61
32482311 2020
45
Role of Surgery in Stage IV Melanoma. 61
32482322 2020
46
The (R)evolution of Melanoma Care. 61
32482324 2020
47
Case report: Neoadjuvant systemic therapy for melanoma. 61
32489661 2020
48
PRDX3 is associated with metastasis and poor survival in uveal melanoma. 61
31771972 2020
49
Constitutive expression of c-REL in uveal melanoma patients: correlation with clinicopathological parameters and patient outcome. 61
31768922 2020
50
[Immunotherapy for malignant melanoma]. 61
32462249 2020

Variations for Melanoma, Cutaneous Malignant 10

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

6 (show top 50) (show all 386) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1):c.1687-1G>ASNV risk factor 139521 rs587777473 7:124465412-124465412 7:124825358-124825358
2 POT1 NM_015450.3(POT1):c.818G>T (p.Arg273Leu)SNV risk factor 139524 rs587777476 7:124493077-124493077 7:124853023-124853023
3 POT1 NM_015450.3(POT1):c.809G>A (p.Ser270Asn)SNV risk factor 139525 rs587777477 7:124493086-124493086 7:124853032-124853032
4 POT1 NM_015450.3(POT1):c.1869G>C (p.Gln623His)SNV risk factor 139526 rs587777478 7:124464052-124464052 7:124823998-124823998
5 POT1 NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)deletion Conflicting interpretations of pathogenicity 209095 rs758673417 7:124464069-124464070 7:124824015-124824016
6 POT1 NM_015450.3(POT1):c.1490C>A (p.Thr497Lys)SNV Conflicting interpretations of pathogenicity 819368 7:124475348-124475348 7:124835294-124835294
7 POT1 NM_015450.3(POT1):c.747A>G (p.Gln249=)SNV Conflicting interpretations of pathogenicity 541860 rs35361862 7:124493148-124493148 7:124853094-124853094
8 POT1 NM_015450.3(POT1):c.1283A>G (p.Asn428Ser)SNV Conflicting interpretations of pathogenicity 541902 rs747149913 7:124481113-124481113 7:124841059-124841059
9 POT1 NM_015450.3(POT1):c.64A>G (p.Ile22Val)SNV Conflicting interpretations of pathogenicity 436392 rs375440229 7:124532380-124532380 7:124892326-124892326
10 POT1 NM_015450.3(POT1):c.147del (p.Ile49fs)deletion Conflicting interpretations of pathogenicity 420174 rs1064794328 7:124511073-124511073 7:124871019-124871019
11 POT1 NM_015450.3(POT1):c.1185C>T (p.Gly395=)SNV Conflicting interpretations of pathogenicity 475028 rs538385307 7:124481211-124481211 7:124841157-124841157
12 POT1 NM_015450.3(POT1):c.1178A>G (p.His393Arg)SNV Conflicting interpretations of pathogenicity 475027 rs746416077 7:124481218-124481218 7:124841164-124841164
13 POT1 NM_015450.3(POT1):c.1164-1G>ASNV Conflicting interpretations of pathogenicity 475026 rs866612394 7:124481233-124481233 7:124841179-124841179
14 POT1 NM_015450.3(POT1):c.1841A>G (p.Asn614Ser)SNV Conflicting interpretations of pathogenicity 475066 rs202024401 7:124464080-124464080 7:124824026-124824026
15 POT1 NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)SNV Conflicting interpretations of pathogenicity 475020 rs143635917 7:124482897-124482897 7:124842843-124842843
16 POT1 NM_015450.3(POT1):c.9+3A>GSNV Conflicting interpretations of pathogenicity 475111 rs372320290 7:124537216-124537216 7:124897162-124897162
17 POT1 NM_015450.3(POT1):c.1814G>C (p.Cys605Ser)SNV Conflicting interpretations of pathogenicity 486133 rs766020213 7:124464107-124464107 7:124824053-124824053
18 POT1 NM_015450.3(POT1):c.771A>T (p.Thr257=)SNV Conflicting interpretations of pathogenicity 486130 rs762679439 7:124493124-124493124 7:124853070-124853070
19 POT1 NM_015450.3(POT1):c.9+6A>GSNV Conflicting interpretations of pathogenicity 514887 rs750242979 7:124537213-124537213 7:124897159-124897159
20 POT1 NM_015450.3(POT1):c.1071dup (p.Gln358fs)duplication Conflicting interpretations of pathogenicity 541864 rs750470470 7:124482952-124482953 7:124842898-124842899
21 POT1 NM_015450.3(POT1):c.1315G>T (p.Val439Leu)SNV Conflicting interpretations of pathogenicity 651734 7:124481081-124481081 7:124841027-124841027
22 POT1 NM_015450.3(POT1):c.702+5T>CSNV Conflicting interpretations of pathogenicity 826780 7:124499006-124499006 7:124858952-124858952
23 POT1 NC_000007.14:g.(?_124823952)_(124871051_?)dupduplication Uncertain significance 831290 7:124464006-124511105
24 POT1 NC_000007.14:g.(?_124823962)_(124827315_?)dupduplication Uncertain significance 830963 7:124464016-124467369
25 POT1 NC_000007.14:g.(?_124823962)_(124859122_?)dupduplication Uncertain significance 830574 7:124464016-124499176
26 POT1 NC_000007.14:g.(?_124835269)_(124897183_?)dupduplication Uncertain significance 831187 7:124475323-124537237
27 POT1 NC_000007.14:g.(?_124840963)_(124842973_?)deldeletion Uncertain significance 830962 7:124481017-124483027
28 POT1 NC_000007.14:g.(?_124840963)_(124853148_?)deldeletion Uncertain significance 831183 7:124481017-124493202
29 POT1 NC_000007.14:g.(?_124846932)_(124847008_?)deldeletion Uncertain significance 832274 7:124486986-124487062
30 POT1 NC_000007.14:g.(?_124863340)_(124863650_?)deldeletion Uncertain significance 833389 7:124503394-124503704
31 POT1 NC_000007.14:g.(?_124892256)_(124892390_?)deldeletion Uncertain significance 831698 7:124532310-124532444
32 POT1 NC_000007.14:g.(?_124892256)_(124897173_?)deldeletion Uncertain significance 831851 7:124532310-124537227
33 POT1 NC_000007.14:g.(?_124892256)_(124897183_?)dupduplication Uncertain significance 831323 7:124532310-124537237
34 POT1 NM_015450.3(POT1):c.1805G>A (p.Trp602Ter)SNV Uncertain significance 857298 7:124464116-124464116 7:124824062-124824062
35 POT1 NM_015450.3(POT1):c.1781G>A (p.Gly594Glu)SNV Uncertain significance 861620 7:124465317-124465317 7:124825263-124825263
36 POT1 NM_015450.3(POT1):c.1765A>G (p.Met589Val)SNV Uncertain significance 847785 7:124465333-124465333 7:124825279-124825279
37 POT1 NM_015450.3(POT1):c.1757T>C (p.Ile586Thr)SNV Uncertain significance 846018 7:124465341-124465341 7:124825287-124825287
38 POT1 NM_015450.3(POT1):c.1726G>A (p.Asp576Asn)SNV Uncertain significance 846954 7:124465372-124465372 7:124825318-124825318
39 POT1 NM_015450.3(POT1):c.1649A>G (p.Asp550Gly)SNV Uncertain significance 852465 7:124467305-124467305 7:124827251-124827251
40 POT1 NM_015450.3(POT1):c.1643T>C (p.Leu548Pro)SNV Uncertain significance 860543 7:124467311-124467311 7:124827257-124827257
41 POT1 NM_015450.3(POT1):c.1624T>C (p.Phe542Leu)SNV Uncertain significance 849950 7:124467330-124467330 7:124827276-124827276
42 POT1 NM_015450.3(POT1):c.1592_1594del (p.Glu531del)deletion Uncertain significance 854388 7:124469308-124469310 7:124829254-124829256
43 POT1 NM_015450.3(POT1):c.1411_1414delinsTTTTT (p.Asn471fs)indel Uncertain significance 859456 7:124475424-124475427 7:124835370-124835373
44 POT1 NM_015450.3(POT1):c.1404C>G (p.Asn468Lys)SNV Uncertain significance 842495 7:124475434-124475434 7:124835380-124835380
45 POT1 NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)SNV Uncertain significance 837307 7:124475438-124475438 7:124835384-124835384
46 POT1 NM_015450.3(POT1):c.1372G>A (p.Gly458Ser)SNV Uncertain significance 851141 7:124475466-124475466 7:124835412-124835412
47 POT1 NM_015450.3(POT1):c.1304_1306del (p.Ala435del)deletion Uncertain significance 843864 7:124481090-124481092 7:124841036-124841038
48 POT1 NM_015450.3(POT1):c.1255T>C (p.Tyr419His)SNV Uncertain significance 850461 7:124481141-124481141 7:124841087-124841087
49 POT1 NM_015450.3(POT1):c.1231G>A (p.Val411Ile)SNV Uncertain significance 846510 7:124481165-124481165 7:124841111-124841111
50 POT1 NM_015450.3(POT1):c.1225C>T (p.Pro409Ser)SNV Uncertain significance 855563 7:124481171-124481171 7:124841117-124841117

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 10:

73
# Symbol AA change Variation ID SNP ID
1 POT1 p.Tyr89Cys VAR_071390 rs587777472
2 POT1 p.Gln94Glu VAR_071391 rs587777474
3 POT1 p.Arg137His VAR_071392 rs587777475
4 POT1 p.Asp224Asn VAR_071393 rs202187871
5 POT1 p.Ser270Asn VAR_071394 rs587777477
6 POT1 p.Arg273Leu VAR_071395 rs587777476
7 POT1 p.Ala532Pro VAR_071396 rs537377921
8 POT1 p.Gln623His VAR_071397 rs587777478

Expression for Melanoma, Cutaneous Malignant 10

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 10.

Pathways for Melanoma, Cutaneous Malignant 10

GO Terms for Melanoma, Cutaneous Malignant 10

Sources for Melanoma, Cutaneous Malignant 10

3 CDC
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68 SNOMED-CT via HPO
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