Skin neoplasm
diseaseOn this page
Also known as neoplasm of skinneoplasm of the skinneoplasm of zone of skinskinskin neoplasmsskin tumorskin tumourtumor of skintumor of the skintumor of zone of skintumour of skintumour of the skintumour of zone of skinzone of skin neoplasmzone of skin neoplasm (disease)zone of skin tumorzone of skin tumour
Summary
Skin neoplasm (MONDO:0002531) is a cancer (an umbrella term covering 17 Mondo subtypes) with 1 cohort gene (234 GWAS associations across 46 studies; 1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 87 clinical trials. Top therapeutic interventions include aminolevulinic acid, sonidegib, and axitinib.
At a glance
- Classification: Cancer
- Umbrella term: 17 Mondo subtypes
- Cohort genes: 1
- GWAS associations: 234
- ClinVar variants: 1
- Clinical trials: 87
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | skin neoplasm |
| Mondo ID | MONDO:0002531 |
| EFO | EFO:0004198 |
| MeSH | D012878 |
| DOID | DOID:3165 |
| NCIT | C3372 |
| SNOMED CT | 126488004 |
| UMLS | C0037286 |
| MedGen | 19993 |
| Anatomy (UBERON) | UBERON:0000014 |
| Is cancer (heuristic) | yes |
Also known as: neoplasm of skin · neoplasm of the skin · neoplasm of zone of skin · skin · skin neoplasm · skin neoplasms · skin tumor · skin tumour · tumor of skin · tumor of the skin · tumor of zone of skin · tumour of skin · tumour of the skin · tumour of zone of skin · zone of skin neoplasm · zone of skin neoplasm (disease) · zone of skin tumor · zone of skin tumour
Data availability: 1 ClinVar variant · 234 GWAS associations (46 studies) · 10 intOGen driver records.
Disease family
An umbrella term covering 17 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › skin neoplasm
Related subtypes (47): pre-malignant neoplasm, endocrine gland neoplasm, giant cell tumor, hematopoietic and lymphoid system neoplasm, mesenchymal cell neoplasm, epidural spinal canal neoplasm, skeletal muscle neoplasm, trophoblastic neoplasm, cancer, germ cell tumor, benign neoplasm, upper aerodigestive tract neoplasm, histiocytoma, embryonal neoplasm, head and neck neoplasm, epithelial neoplasm, reproductive system neoplasm, non-seminomatous lesion, odontogenic cyst, phosphaturic mesenchymal tumor, thyroglossal duct cyst, hamartoma, mesenchymoma, mesothelial neoplasm, peritoneal neoplasm, virus associated tumor, nail tumor, respiratory tract neoplasm, spindle cell neoplasm, mixed neoplasm, urinary system neoplasm, cystic neoplasm, childhood neoplasm, melanocytic neoplasm, digestive system neoplasm, nervous system neoplasm, neoplasm of thorax, connective tissue neoplasm, bronchial adenomas/carcinoids childhood, diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, erythroplakia, retroperitoneal neoplasm, cardiovascular neoplasm, dermoid or epidermoid cyst of the central nervous system, connective and soft tissue neoplasm, NTRK fusion positive cancer, RET fusion positive cancer
Subtypes (17): dermoid cyst of skin, eyelid neoplasm, epidermal appendage tumor, dermis tumor, skin cancer, benign dermal neurilemmoma, actinic keratosis, familial Dupuytren contracture, schwannomatosis, familial multiple discoid fibromas, Maffucci syndrome, hemangiopericytoma of skin, benign neoplasm of skin, melanocytic skin neoplasm, epithelial skin neoplasm, calcifying epithelial odontogenic tumor, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Genetics & variants
GWAS landscape
234 GWAS associations across 46 studies. Top hits map to 26 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1805007 | 1e-323 | MC1R | C | 0.38 |
| rs12203592 | 1e-323 | IRF4 | C | 0.39 |
| rs16891982 | 1e-181 | SLC45A2 | C | 0.54 |
| rs6059655 | 5e-173 | RALY | A | 0.27 |
| rs1126809 | 6e-138 | TYR | G | 0.15 |
| rs62211989 | 4e-85 | TPM3P2 - PIGPP3 | G | 0.25 |
| rs6743068 | 6e-82 | CASP8, FLACC1 | A | 0.12 |
| rs12350739 | 2e-65 | BNC2 - RN7SL720P | G | 0.1 |
| rs12913832 | 4e-63 | HERC2 | A | 0.12 |
| rs7582362 | 7e-61 | CASP8, FLACC1 | A | 0.12 |
| rs62244884 | 2e-57 | FOXP1 | G | 0.09 |
| rs383009 | 5e-53 | CLPTM1L | C | 0.09 |
| rs56300457 | 3e-51 | RHOU - LINC02814 | T | 0.1 |
| rs72928038 | 5e-47 | BACH2 | G | 0.11 |
| chr2:202165206 | 1e-46 | T | 0.1 | |
| rs9815073 | 6e-46 | LPP | C | 0.11 |
| rs11170164 | 1e-45 | KRT5 | C | 0.15 |
| rs61824911 | 3e-45 | RHOU - LINC02814 | G | 0.16 |
| chr10:8944623 | 1e-42 | G | 0.12 | |
| rs113663016 | 6e-42 | RCC2 | G | 0.08 |
| chr20:2281970 | 2e-40 | G | 0.11 | |
| rs11308001 | 6e-38 | IRF4 | C | 0.13 |
| rs2080303 | 3e-37 | CASP8, FLACC1 | C | 0.14 |
| rs75507031 | 2e-36 | CASP8, FLACC1 | C | 0.09 |
| rs7610856 | 7e-36 | FOXP1 | C | 0.09 |
| rs214793 | 1e-34 | TGM3 | T | 0.15 |
| rs145102655 | 2e-34 | LINC02676 | T | 0.19 |
| rs60387933 | 8e-34 | RCC2 | A | 0.12 |
| chr6:32579277 | 1e-33 | C | 0.09 | |
| rs117744081 | 2e-31 | CPVL | A | 0.2 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475580 | Verma A | 2024 | 68,143 | 360,898 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475585 | Verma A | 2024 | 59,327 | 338,779 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90018921 | Sakaue S | 2021 | 25,928 | 466,275 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90079601 | Backman JD | 2021 | 15,858 | 368,260 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083587 | Backman JD | 2021 | 15,858 | 368,260 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90041830 | Jiang L | 2021 | 11,964 | 444,384 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90435597 | Zhou W | 2018 | 11,149 | 395,071 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90079596 | Backman JD | 2021 | 7,572 | 380,358 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083582 | Backman JD | 2021 | 7,572 | 380,358 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90043874 | Jiang L | 2021 | 6,046 | 450,302 | A generalized linear mixed model association tool for biobank-scale data. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 6 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 42 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 46 |
| low_freq (0.01-0.05) | 3 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 31 |
| unknown | 7 |
| missense_variant | 6 |
| intergenic_variant | 4 |
| TF_binding_site_variant | 1 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1805007 | 16 | 89919709 | C>A,G,T | 0.082 | missense_variant | MC1R | 1e-323 | Tier 1: coding |
| rs12203592 | 6 | 396321 | C>G,T | 0.16 | intron_variant | IRF4 | 1e-323 | Tier 4: intronic/intergenic |
| rs16891982 | 5 | 33951588 | C>A,G | 0.038 | missense_variant | SLC45A2 | 1e-181 | Tier 1: coding |
| rs6059655 | 20 | 34077942 | A>G | 0.091 | intron_variant | RALY | 5e-173 | Tier 4: intronic/intergenic |
| rs1126809 | 11 | 89284793 | G>A | 0.283 | missense_variant | TYR | 6e-138 | Tier 1: coding |
| rs62211989 | 20 | 33950585 | G>C | 0.058 | intergenic_variant | TPM3P2 - PIGPP3 | 4e-85 | Tier 4: intronic/intergenic |
| rs6743068 | 2 | 201289197 | A>C,G,T | 0.281 | intron_variant | CASP8, FLACC1 | 6e-82 | Tier 4: intronic/intergenic |
| rs12350739 | 9 | 16885019 | G>A,C,T | 0.435 | TF_binding_site_variant | BNC2 - RN7SL720P | 2e-65 | Tier 3: regulatory |
| rs12913832 | 15 | 28120472 | A>C,G | 0.241 | intron_variant | HERC2 | 4e-63 | Tier 4: intronic/intergenic |
| rs7582362 | 2 | 201311571 | A>G | 0.28 | intron_variant | CASP8, FLACC1 | 7e-61 | Tier 4: intronic/intergenic |
| rs62244884 | 3 | 71534232 | G>A | 0.417 | intron_variant | FOXP1 | 2e-57 | Tier 4: intronic/intergenic |
| rs383009 | 5 | 1327736 | C>A,G,T | 0.412 | intron_variant | CLPTM1L | 5e-53 | Tier 4: intronic/intergenic |
| rs56300457 | 1 | 228848762 | T>C,G | 0.251 | intron_variant | RHOU - LINC02814 | 3e-51 | Tier 4: intronic/intergenic |
| rs72928038 | 6 | 90267049 | G>A | 0.168 | intron_variant | BACH2 | 5e-47 | Tier 4: intronic/intergenic |
| chr2:202165206 | 0.282 | 1e-46 | Tier 4: intronic/intergenic | |||||
| rs9815073 | 3 | 188397894 | C>A,G | 0.324 | intron_variant | LPP | 6e-46 | Tier 4: intronic/intergenic |
| rs11170164 | 12 | 52519884 | C>A,G,T | 0.077 | missense_variant | KRT5 | 1e-45 | Tier 1: coding |
| rs61824911 | 1 | 228843990 | A>G | 0.05 | intron_variant | RHOU - LINC02814 | 3e-45 | Tier 4: intronic/intergenic |
| chr10:8944623 | 0.117 | 1e-42 | Tier 4: intronic/intergenic | |||||
| rs113663016 | 1 | 17438131 | G>A | 0.346 | intron_variant | RCC2 | 6e-42 | Tier 4: intronic/intergenic |
| chr20:2281970 | 0.203 | 2e-40 | Tier 4: intronic/intergenic | |||||
| rs11308001 | 6 | 392691 | CG>C | 0.05 | intron_variant | IRF4 | 6e-38 | Tier 4: intronic/intergenic |
| rs2080303 | 2 | 201300483 | T>A,C,G | 0.05 | intron_variant | CASP8, FLACC1 | 3e-37 | Tier 4: intronic/intergenic |
| rs75507031 | 2 | 201296039 | C>A,T | 0.279 | intron_variant | CASP8, FLACC1 | 2e-36 | Tier 4: intronic/intergenic |
| rs7610856 | 3 | 71529871 | C>A | 0.351 | intron_variant | FOXP1 | 7e-36 | Tier 4: intronic/intergenic |
| rs214793 | 20 | 2305059 | C>G,T | 0.05 | intron_variant | TGM3 | 1e-34 | Tier 4: intronic/intergenic |
| rs145102655 | 10 | 8897708 | TA>T,TAA | 0.05 | intron_variant | LINC02676 | 2e-34 | Tier 4: intronic/intergenic |
| rs60387933 | 1 | 17426844 | C>A,T | 0.05 | intron_variant | RCC2 | 8e-34 | Tier 4: intronic/intergenic |
| chr6:32579277 | 0.422 | 1e-33 | Tier 4: intronic/intergenic | |||||
| rs117744081 | 7 | 29092663 | A>G | 0.032 | missense_variant | CPVL | 2e-31 | Tier 1: coding |
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 128015 | NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) | RAD50 | Pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| RAD50 | Act | GBM | CIViC #8032 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RAD50 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| RAD50 | Orphanet:240760 | Nijmegen breakage syndrome-like disorder |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RAD50 | HGNC:9816 | ENSG00000113522 | Q92878 | DNA repair protein RAD50 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RAD50 | DNA repair protein RAD50 | Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RAD50 | Other/Unknown | no | Rad50_eukaryotes, Zn_hook_RAD50, P-loop_NTPase |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| calcaneal tendon | 1 |
| colonic epithelium | 1 |
| corpus callosum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RAD50 | 134 | ubiquitous | marker | corpus callosum, calcaneal tendon, colonic epithelium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RAD50 | 2,552 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| RAD50 | Q92878 | 6 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 21. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Sensing of DNA Double Strand Breaks | 1 | 1903.3× | 0.006 | RAD50 |
| HDR through MMEJ (alt-NHEJ) | 1 | 878.5× | 0.006 | RAD50 |
| Impaired BRCA2 binding to PALB2 | 1 | 456.8× | 0.006 | RAD50 |
| Defective homologous recombination repair (HRR) due to BRCA1 loss of function | 1 | 423.0× | 0.006 | RAD50 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | 1 | 423.0× | 0.006 | RAD50 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | 1 | 423.0× | 0.006 | RAD50 |
| Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | 1 | 393.8× | 0.006 | RAD50 |
| Homologous DNA Pairing and Strand Exchange | 1 | 380.7× | 0.006 | RAD50 |
| Impaired BRCA2 binding to RAD51 | 1 | 308.6× | 0.006 | RAD50 |
| Resolution of D-loop Structures through Holliday Junction Intermediates | 1 | 300.5× | 0.006 | RAD50 |
| HDR through Single Strand Annealing (SSA) | 1 | 292.8× | 0.006 | RAD50 |
| Presynaptic phase of homologous DNA pairing and strand exchange | 1 | 271.9× | 0.006 | RAD50 |
| HDR through Homologous Recombination (HRR) | 1 | 190.3× | 0.008 | RAD50 |
| Nonhomologous End-Joining (NHEJ) | 1 | 167.9× | 0.008 | RAD50 |
| DNA Damage/Telomere Stress Induced Senescence | 1 | 163.1× | 0.008 | RAD50 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 1 | 146.4× | 0.008 | RAD50 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 1 | 146.4× | 0.008 | RAD50 |
| Meiotic recombination | 1 | 129.8× | 0.009 | RAD50 |
| G2/M DNA damage checkpoint | 1 | 120.2× | 0.009 | RAD50 |
| Regulation of TP53 Activity through Phosphorylation | 1 | 117.7× | 0.009 | RAD50 |
| Processing of DNA double-strand break ends | 1 | 114.2× | 0.009 | RAD50 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of mitotic recombination | 1 | 8426.0× | 0.001 | RAD50 |
| telomeric 3’ overhang formation | 1 | 4213.0× | 0.001 | RAD50 |
| chromosome organization involved in meiotic cell cycle | 1 | 3370.4× | 0.001 | RAD50 |
| negative regulation of telomere capping | 1 | 3370.4× | 0.001 | RAD50 |
| DNA strand resection involved in replication fork processing | 1 | 2106.5× | 0.002 | RAD50 |
| R-loop processing | 1 | 1685.2× | 0.002 | RAD50 |
| telomere maintenance via recombination | 1 | 1532.0× | 0.002 | RAD50 |
| DNA double-strand break processing | 1 | 1532.0× | 0.002 | RAD50 |
| homologous recombination | 1 | 1404.3× | 0.002 | RAD50 |
| mitotic G2/M transition checkpoint | 1 | 802.5× | 0.002 | RAD50 |
| telomere maintenance via telomerase | 1 | 732.7× | 0.002 | RAD50 |
| reciprocal meiotic recombination | 1 | 561.7× | 0.003 | RAD50 |
| positive regulation of telomere maintenance | 1 | 510.7× | 0.003 | RAD50 |
| positive regulation of double-strand break repair | 1 | 343.9× | 0.004 | RAD50 |
| DNA recombination | 1 | 337.0× | 0.004 | RAD50 |
| telomere maintenance | 1 | 267.5× | 0.005 | RAD50 |
| double-strand break repair | 1 | 203.0× | 0.006 | RAD50 |
| double-strand break repair via homologous recombination | 1 | 156.0× | 0.007 | RAD50 |
| DNA repair | 1 | 63.8× | 0.016 | RAD50 |
| DNA damage response | 1 | 53.5× | 0.019 | RAD50 |
Therapeutics
Drugs indicated for this disease
6 approved, 13 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Avobenzone | Approved (phase 4) |
| Dimethicone | Approved (phase 4) |
| Octinoxate | Approved (phase 4) |
| Salicylic Acid | Approved (phase 4) |
| Titanium Dioxide | Approved (phase 4) |
| Zinc Oxide | Approved (phase 4) |
| Aldesleukin | Phase 3 (in late-stage trials) |
| Carboplatin | Phase 3 (in late-stage trials) |
| Cisplatin | Phase 3 (in late-stage trials) |
| Cyclosporine | Phase 3 (in late-stage trials) |
| Dacarbazine | Phase 3 (in late-stage trials) |
| Everolimus | Phase 3 (in late-stage trials) |
| Interferon Alfa | Phase 3 (in late-stage trials) |
| Linrodostat | Phase 3 (in late-stage trials) |
| Nivolumab | Phase 3 (in late-stage trials) |
| Sirolimus | Phase 3 (in late-stage trials) |
| Tacrolimus Anhydrous | Phase 3 (in late-stage trials) |
| Tretinoin | Phase 3 (in late-stage trials) |
| Vinblastine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Avelumab, Axitinib, Capecitabine, Cemiplimab, Cetuximab, Erlotinib, Fludarabine, Fludarabine Phosphate, Gefitinib, Incomplete Freund’S Adjuvant, Itraconazole, Ornithine, Pembrolizumab, Talabostat, Temozolomide, Veliparib.
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 0
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| RAD50 | 1 | 2 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOLIBRESIB | 2 | RAD50 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| RAD50 | 7 | Binding:7 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
1 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| MOLIBRESIB | 2 | RAD50 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 1 | RAD50 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
Clinical trials & evidence
Clinical trials
Clinical trials: 87.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 58 |
| PHASE2 | 9 |
| PHASE1 | 6 |
| PHASE1/PHASE2 | 5 |
| PHASE4 | 4 |
| PHASE3 | 2 |
| PHASE2/PHASE3 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00087490 | PHASE4 | COMPLETED | Skin Structure Infections With Suspected or Proven Methicillin-Resistant Staphylococcus Aureus (MRSA) |
| NCT00129961 | PHASE4 | COMPLETED | Study Evaluating the Effect of Sirolimus on Non-Melanoma Skin Cancer in Kidney Transplant Recipients |
| NCT00847912 | PHASE4 | COMPLETED | CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial |
| NCT05359419 | PHASE4 | UNKNOWN | Comparison of Two Modes of Photodynamic Therapy for the Treatment of Actinic Keratosis on the Upper Extremities |
| NCT05786716 | PHASE2/PHASE3 | RECRUITING | DETERMINE Trial Treatment Arm 04: Trastuzumab in Combination With Pertuzumab in Adult, Paediatric and Teenage/Young Adult Patients With Cancers With HER2 Amplification or Activating Mutations |
| NCT00007631 | PHASE3 | COMPLETED | Determine the Efficacy of Topical Tretinoin Cream for the Prevention of Nonmelanoma Skin Cancer |
| NCT00224744 | PHASE3 | COMPLETED | Prospective and Randomized Study to Evaluate Interest of Ultracision Use in Inguinal Lymph Nodes Curage |
| NCT06295809 | PHASE2/PHASE3 | TERMINATED | A Study of (Neo)Adjuvant Intismeran Autogene (V940) and Pembrolizumab in Cutaneous Squamous Cell Carcinoma (V940-007) |
| NCT04305691 | PHASE2 | RECRUITING | Trial of Ixazomib for Kaposi Sarcoma |
| NCT07431541 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Topical Carboxytherapy Paste Following Microneedling |
| NCT00027586 | PHASE2 | COMPLETED | Imatinib Mesylate in Treating Patients With Metastatic Melanoma |
| NCT00094107 | PHASE2 | COMPLETED | Anti-Angiogenesis Agent AG-013736 In Patients With Metastatic Melanoma |
| NCT00204789 | PHASE2 | COMPLETED | Difluoromethylornithine (DFMO) Chemoprevention of Skin Cancer in Organ Transplant Recipients |
| NCT00865878 | PHASE2 | TERMINATED | ALA-PDT Versus Vehicle PDT for Treatment of AK and Reduction of New NMSC in Solid Organ Transplant Recipients |
| NCT02303041 | PHASE2 | TERMINATED | Pilot Study of Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma |
| NCT02550678 | PHASE1/PHASE2 | COMPLETED | A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma |
| NCT02705352 | PHASE2 | COMPLETED | 5-fluorouracil Versus Placebo in Periocular Full Thickness Skin Grafts |
| NCT02836548 | PHASE1/PHASE2 | COMPLETED | HDAC Inhibitor Vorinostat in Resistant BRAF V600 Mutated Advanced Melanoma |
| NCT03012581 | PHASE2 | COMPLETED | Secured Access to Nivolumab for Adult Patients With Selected Rare Cancer Types |
| NCT03189628 | PHASE1/PHASE2 | UNKNOWN | The Effect of Autologous Stromal Vascular Fractions on Skin Regeneration |
| NCT03666325 | PHASE2 | UNKNOWN | Immunotherapy +/- EGFR Inhibitor In Advanced/Metastatic cSCC: Tackling Primary And Secondary Resistance |
| NCT03887208 | PHASE1/PHASE2 | COMPLETED | Therapy of Scars and Cutis Laxa With Autologous Adipose Derived Mesenchymal Stem Cells |
| NCT00698100 | PHASE1 | COMPLETED | Vaccination of AJCC Stage IIB, IIC, III and IV Melanoma Patients With Human and Mouse Tyrosinase DNA Vaccines |
| NCT00993512 | PHASE1 | COMPLETED | Safety Study of Amphinex Based Photochemical Internalisation (PCI) of Bleomycin in Patients With Cutaneous Cancer |
| NCT02097875 | PHASE1 | COMPLETED | Safety Study of a Fluorescent Marker to Visualize Cancer Cells |
| NCT02145130 | PHASE1 | COMPLETED | Phase I Study for Autologous Dermal Substitutes and Dermo-epidermal Skin Substitutes for Treatment of Skin Defects |
| NCT02602067 | PHASE1 | TERMINATED | 131Iodine-Tenatumomab Treatment in Tenascin-C Positive Cancer Patients |
| NCT02813902 | PHASE1 | WITHDRAWN | A Trial of Polypodium Leucotomos in Preventing Skin Cancer and Its Precursors |
| NCT04630886 | EARLY_PHASE1 | TERMINATED | Use of Tranexamic Acid in Reduction of Post-Op Complications in Mohs Micrographic Surgery |
| NCT04267861 | Not specified | ACTIVE_NOT_RECRUITING | M7824 Related Adverse Effects in Adults With Cancer |
| NCT05463757 | Not specified | RECRUITING | Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study |
| NCT05908435 | Not specified | ACTIVE_NOT_RECRUITING | Impact of Sunscreen Dispensers in Parks Visited by Teenagers |
| NCT07040683 | Not specified | RECRUITING | Negative Pressure Wound Therapy for Split Thickness Skin Grafting to the Lower Leg After Excision of Skin Tumour: A Multicentre Randomised Study |
| NCT07062003 | Not specified | RECRUITING | Minibeam Radiation Therapy With Tungsten Slit Collimator for the Treatment of Recurrent or Metastatic Skin or Soft Tissue Tumors, MBRT1 Trial |
| NCT07188948 | Not specified | RECRUITING | In Vivo Cross-Modal Imaging of Skin |
| NCT07213154 | Not specified | RECRUITING | Optical Imaging Scans for the Diagnosis of Skin Cancer in Patients With Lesions |
| NCT07298382 | Not specified | RECRUITING | See the Impact Beem’s Blue Light Therapy Has on Your Skin Health! |
| NCT07343544 | Not specified | NOT_YET_RECRUITING | Clinical Trial to Assess the Efficacy and Safety of a Cosmetic Product in Individuals Showing Signs of Cutaneous Aging. |
| NCT07404605 | Not specified | RECRUITING | Electrochemotherapy-Induced Changes in Tumor Microenvironment in Cutaneous Melanoma |
| NCT07415291 | Not specified | ACTIVE_NOT_RECRUITING | CNN-Based AI Versus Physicians for Solitary Skin Lesion Diagnosis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| AMINOLEVULINIC ACID | 4 | 2 |
| SONIDEGIB | 4 | 2 |
| AXITINIB | 4 | 1 |
| BLEOMYCIN | 4 | 1 |
| EFLORNITHINE | 4 | 1 |
| FLUOROURACIL | 4 | 1 |
| IMATINIB | 4 | 1 |
| IXAZOMIB CITRATE | 4 | 1 |
| LINEZOLID | 4 | 1 |
| PERTUZUMAB | 4 | 1 |
| SIROLIMUS | 4 | 1 |
| TRETINOIN | 4 | 1 |
| VANCOMYCIN | 4 | 1 |
| VISMODEGIB | 4 | 1 |
| BUPARLISIB | 3 | 1 |
| TYROSINASE | 3 | 1 |
| FIMAPORFIN | 2 | 1 |
| GUSACITINIB | 2 | 1 |
| INTISMERAN AUTOGENE | 2 | 1 |
| TOZULERISTIDE | 2 | 1 |
| ZENIDOLOL | 2 | 1 |
| CHEMBL4299436 | 0 | 1 |
| CHEMBL4854670 | 0 | 1 |
| CHEMBL3939307 | 0 | 1 |
| CHEMBL1813256 | 0 | 1 |
| ALMOND OIL | -1 | 1 |
Related Atlas pages
- Cohort genes: RAD50
- Drugs: Aminolevulinic Acid, Sonidegib, Axitinib, Bleomycin, Eflornithine, Fluorouracil, Imatinib, Ixazomib, Linezolid, Pertuzumab, Sirolimus, Tretinoin, Vancomycin, Vismodegib, Buparlisib, Tyrosinase