Skin cancer

Summary

Skin cancer (MONDO:0002898) is a cancer (an umbrella term covering 13 Mondo subtypes) with 207 GWAS associations across 28 studies and 287 clinical trials. Top therapeutic interventions include sirolimus, sonidegib, and vismodegib. A subtype of integumentary system cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 13 Mondo subtypes
• GWAS associations: 207
• Clinical trials: 287

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	skin cancer
Mondo ID	MONDO:0002898
DOID	DOID:4159
ICD-10-CM	C43-C44
ICD-11	1706880799
NCIT	C2920
SNOMED CT	372130007
UMLS	C0007114
MedGen	40101
Anatomy (UBERON)	UBERON:0000014
Is cancer (heuristic)	yes

Also known as: cancer of zone of skin · malignant neoplasm of skin · malignant neoplasm of the skin · malignant neoplasm of zone of skin · malignant skin neoplasm · malignant skin tumor · malignant skin tumour · malignant tumor of skin · malignant tumor of the skin · malignant tumour of skin · malignant tumour of the skin · malignant zone of skin neoplasm · melanoma and non-melanoma skin cancer · skin cancer · skin cancer, Including melanoma · skin neoplasm, malignant · zone of skin cancer

Data availability: 207 GWAS associations (28 studies).

Disease family

An umbrella term covering 13 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system cancer › skin cancer

Related subtypes (6): bartholin gland carcinoma, nipple carcinoma, breast adenocarcinoma, atypical lobular breast hyperplasia, breast diffuse large B-cell lymphoma, dermatofibrosarcoma protuberans

Subtypes (13): labium majus cancer, labia minora cancer, prepuce cancer, sweat gland cancer, cutaneous ganglioneuroma, skin carcinoma, malignant dermis tumor, skin meningioma, cutaneous melanoma, primary cutaneous lymphoma, CD4+/CD56+ hematodermic neoplasm, eyelid cancer, sebaceous gland cancer

Genetics & variants

GWAS landscape

207 GWAS associations across 28 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12203592	1e-323	IRF4	C	0.37
chr16:89714844	1e-323		G	0.38
rs1805007	8e-269	MC1R	C	0.39
rs16891982	1e-240	SLC45A2	C	0.56
rs6059655	2e-227	RALY	A	0.29
rs1126809	5e-165	TYR	G	0.15
rs62211989	6e-139	TPM3P2 - PIGPP3	G	0.3
chr2:202165206	6e-82		T	0.11
rs12350739	1e-69	BNC2 - RN7SL720P	G	0.1
rs12913832	1e-69	HERC2	A	0.11
chr3:71554185	3e-58		C	0.08
rs7582362	4e-56	CASP8, FLACC1	A	0.11
rs72928038	7e-55	BACH2	G	0.11
rs56300457	1e-46	RHOU - LINC02814	T	0.09
rs11170164	1e-46	KRT5	C	0.14
rs10962650	1e-44	BNC2 - RN7SL720P	C	0.09
rs7640550	2e-43	LPP	T	0.08
chr10:8962477	1e-38		C	0.1
chr3:71578737	3e-38		T	0.08
rs113663016	6e-38	RCC2	G	0.07
rs117744081	1e-37	CPVL	A	0.2
chr20:2281970	1e-36		G	0.1
rs55716899	6e-35	FOXP1	T	0.08
rs75507031	3e-33	CASP8, FLACC1	C	0.1
rs383009	4e-32	CLPTM1L	C	0.06
rs35782301	1e-30	CTXND2	C	0.07
rs3927680	1e-30	BNC2 - RN7SL720P	T	0.09
rs204295	4e-30	CEP43 - CCR6	C	0.06
chr3:188093707	7e-29		G	0.08
rs3087243	2e-28	CTLA4 - ICOS	G	0.07

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475575	Verma A	2024	83,801	347,397	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475189	Verma A	2024	55,282	260,386	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079101	Backman JD	2021	21,805	52,425	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083087	Backman JD	2021	21,805	52,425	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90435594	Zhou W	2018	13,752	395,071	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90079100	Backman JD	2021	8,504	65,726	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083086	Backman JD	2021	8,504	65,726	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079095	Backman JD	2021	5,918	68,312	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083081	Backman JD	2021	5,918	68,312	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90475190	Verma A	2024	5,688	309,980	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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)	45
low_freq (0.01-0.05)	4
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	23
unknown	11
intergenic_variant	8
missense_variant	6
TF_binding_site_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12203592	6	396321	C>G,T	0.16	intron_variant	IRF4	1e-323	Tier 4: intronic/intergenic
chr16:89714844				0.077			1e-323	Tier 4: intronic/intergenic
rs1805007	16	89919709	C>A,G,T	0.064	missense_variant	MC1R	8e-269	Tier 1: coding
rs16891982	5	33951588	C>A,G	0.038	missense_variant	SLC45A2	1e-240	Tier 1: coding
rs6059655	20	34077942	A>G	0.092	intron_variant	RALY	2e-227	Tier 4: intronic/intergenic
rs1126809	11	89284793	G>A	0.283	missense_variant	TYR	5e-165	Tier 1: coding
rs62211989	20	33950585	G>C	0.059	intergenic_variant	TPM3P2 - PIGPP3	6e-139	Tier 4: intronic/intergenic
chr2:202165206				0.282			6e-82	Tier 4: intronic/intergenic
rs12350739	9	16885019	G>A,C,T	0.435	TF_binding_site_variant	BNC2 - RN7SL720P	1e-69	Tier 3: regulatory
rs12913832	15	28120472	A>C,G	0.241	intron_variant	HERC2	1e-69	Tier 4: intronic/intergenic
chr3:71554185				0.418			3e-58	Tier 4: intronic/intergenic
rs7582362	2	201311571	A>G	0.281	intron_variant	CASP8, FLACC1	4e-56	Tier 4: intronic/intergenic
rs72928038	6	90267049	G>A	0.168	intron_variant	BACH2	7e-55	Tier 4: intronic/intergenic
rs56300457	1	228848762	T>C,G	0.251	intron_variant	RHOU - LINC02814	1e-46	Tier 4: intronic/intergenic
rs11170164	12	52519884	C>A,G,T	0.077	missense_variant	KRT5	1e-46	Tier 1: coding
rs10962650	9	16874614	C>T	0.489	intergenic_variant	BNC2 - RN7SL720P	1e-44	Tier 4: intronic/intergenic
rs7640550	3	188362460	T>C,G	0.481	intron_variant	LPP	2e-43	Tier 4: intronic/intergenic
chr10:8962477				0.114			1e-38	Tier 4: intronic/intergenic
chr3:71578737				0.422			3e-38	Tier 4: intronic/intergenic
rs113663016	1	17438131	G>A	0.346	intron_variant	RCC2	6e-38	Tier 4: intronic/intergenic
rs117744081	7	29092663	A>G	0.032	missense_variant	CPVL	1e-37	Tier 1: coding
chr20:2281970				0.203			1e-36	Tier 4: intronic/intergenic
rs55716899	3	71449410	T>C	0.362	intron_variant	FOXP1	6e-35	Tier 4: intronic/intergenic
rs75507031	2	201296039	C>A,T	0.281	intron_variant	CASP8, FLACC1	3e-33	Tier 4: intronic/intergenic
rs383009	5	1327736	C>A,G,T	0.412	intron_variant	CLPTM1L	4e-32	Tier 4: intronic/intergenic
rs35782301	1	150889383	C>A,G,T	0.283	intron_variant	CTXND2	1e-30	Tier 4: intronic/intergenic
rs3927680	9	16887368	T>A	0.474	intergenic_variant	BNC2 - RN7SL720P	1e-30	Tier 4: intronic/intergenic
rs204295	6	167087074	C>G,T	0.465	intron_variant	CEP43 - CCR6	4e-30	Tier 4: intronic/intergenic
chr3:188093707				0.433			7e-29	Tier 4: intronic/intergenic
rs3087243	2	203874196	G>A,T	0.446	intergenic_variant	CTLA4 - ICOS	2e-28	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 287.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	191
PHASE2	43
PHASE1	16
PHASE1/PHASE2	14
PHASE3	9
EARLY_PHASE1	9
PHASE4	4
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07200544	PHASE4	RECRUITING	Meloxicam in Mohs Micrographic Surgery
NCT07426484	PHASE4	NOT_YET_RECRUITING	Cosibelimab for CSCC in Patients With Kidney Transplant or Hematologic Malignancy
NCT00492895	PHASE4	COMPLETED	Photosensitivity of the Skin Under Azathioprin in Renal Transplant Recipients
NCT00866684	PHASE4	TERMINATED	Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol
NCT05634252	PHASE3	RECRUITING	Undergraduate Skin Cancer Prevention Trial
NCT05860881	PHASE3	ACTIVE_NOT_RECRUITING	Topical Sirolimus in Chemoprevention of Facial Squamous Cell Carcinomas in Solid Organ Transplant Recipients (SiroSkin)
NCT00002882	PHASE3	COMPLETED	Interferon Alfa With or Without Combination Chemotherapy Plus Interleukin-2 in Treating Patients With Melanoma
NCT00133887	PHASE3	COMPLETED	TUMORAPA 1: Efficacy of Rapamycin in Secondary Prevention of Skin Cancers in Kidney Transplant Recipients
NCT00193895	PHASE3	COMPLETED	Post-operative Concurrent Chemo-radiotherapy Versus Post-operative Radiotherapy for Cancer of the Head and Neck
NCT00367042	PHASE2/PHASE3	COMPLETED	Study to Determine if Tissue Scored With a Scalpel Results in Any Noticeable Marks
NCT00799188	PHASE3	COMPLETED	CERTICOEUR: A Secondary Prevention Study of Skin Cancers in Heart Transplant Patients. Everolimus Versus Calcineurin Inhibitors Multicenter Trial
NCT03329846	PHASE3	COMPLETED	An Investigational Immuno-therapy Study of BMS-986205 Combined With Nivolumab, Compared to Nivolumab by Itself, in Patients With Advanced Melanoma
NCT04341064	PHASE3	COMPLETED	Sun-safe Habits Intervention and Education
NCT05136079	PHASE3	UNKNOWN	Prophylactic LYMphatic Reconstruction (LYMbR) to Prevent Lymphedema After Node Dissection for Cutaneous Malignancies
NCT03071406	PHASE2	ACTIVE_NOT_RECRUITING	Randomized Study of Nivolumab+Ipilimumab+/- SBRT for Metastatic Merkel Cell Carcinoma
NCT03944941	PHASE2	ACTIVE_NOT_RECRUITING	Avelumab With or Without Cetuximab in Treating Patients With Advanced Skin Squamous Cell Cancer
NCT04273061	PHASE2	RECRUITING	Investigating the Effects of Atezolizumab in People Whose Tumour DNA or RNA Indicates Possible Sensitivity
NCT04305145	PHASE2	ACTIVE_NOT_RECRUITING	Infliximab for Treatment of Immune Checkpoint Inhibitor Colitis
NCT04315701	PHASE2	ACTIVE_NOT_RECRUITING	A PD-1 Checkpoint Inhibitor (Cemiplimab) for High-Risk Localized, Locally Recurrent, or Regionally Advanced Skin Cancer
NCT05086692	PHASE1/PHASE2	RECRUITING	A Beta-only IL-2 ImmunoTherapY Study
NCT05574101	PHASE2	ACTIVE_NOT_RECRUITING	A Study of Radiation Therapy and Cemiplimab for People With Skin Cancer
NCT05779423	PHASE2	RECRUITING	Cryoablation+Ipilimumab+Nivolumab in Melanoma
NCT06362369	PHASE1/PHASE2	RECRUITING	A Study of Oral 7HP349 (Alintegimod) in Combination With Ipilimumab Followed by Nivolumab Monotherapy
NCT06926075	PHASE1/PHASE2	RECRUITING	Early Phase Study of KESONOTIDE™in Participants With Solid Tumours
NCT07010692	PHASE1/PHASE2	RECRUITING	Treating Basal and Squamous Cell Carcinomas With Fractional Laser and Tirbanibulin Ointment
NCT07288073	PHASE2	RECRUITING	TIL Therapy in cSCC and MCC
NCT07422805	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Circulating Tumor DNA in Melanoma Patients
NCT00044356	PHASE2	COMPLETED	Phase II Trial of Allovectin-7® for Metastatic Melanoma
NCT00054691	PHASE2	COMPLETED	ZD1839 (Iressa) for Recurrent or Metastatic Squamous Cell Carcinoma of the Skin
NCT00083239	PHASE2	COMPLETED	Study of Talabostat in Advanced Melanoma
NCT00083252	PHASE2	COMPLETED	Study of Talabostat and Cisplatin in Advanced Melanoma
NCT00089180	PHASE2	COMPLETED	T4N5 Liposomal Lotion in Preventing The Recurrence of Nonmelanoma Skin Cancer in Patients Who Have Undergone a Kidney Transplant
NCT00126555	PHASE2	COMPLETED	Gefitinib in Treating Patients Who Are Undergoing Surgery and/or Radiation Therapy for Locally Advanced or Recurrent Squamous Cell Skin Cancer
NCT00403377	PHASE1/PHASE2	COMPLETED	Investigation of a Behavioral Substitute for Sunbathing
NCT00509288	PHASE2	COMPLETED	Phase II Study of Metastatic Melanoma With Lymphodepleting Conditioning and Infusion of Anti-MART-1 F5 TCR-Gene-Engineered Lymphocytes
NCT00509496	PHASE2	TERMINATED	Phase II Study of Metastatic Melanoma With Lymphodepleting Conditioning and Anti-gp100:154-162 TCR Gene Engineered Lymphocytes
NCT00520299	PHASE1/PHASE2	COMPLETED	Study of ADI-PEG 20 in Patients With Advanced Melanoma
NCT00563290	PHASE2	COMPLETED	Dasatinib in Treating Patients With Unresectable or Metastatic Squamous Cell Skin Cancer or RAI Stage 0-I Chronic Lymphocytic Leukemia
NCT00588341	PHASE2	COMPLETED	Phase II Trial of Neoadjuvant Temozolomide in Melanoma Patients With Palpable Stage III or IV Disease Undergoing Complete Surgical Resection
NCT00610311	PHASE2	TERMINATED	Anti-gp100 Cells Plus ALVAC gp100 Vaccine to Treat Advanced Melanoma

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SIROLIMUS	4	3
SONIDEGIB	4	3
VISMODEGIB	4	3
CEMIPLIMAB	4	2
DASATINIB ANHYDROUS	4	2
NIACINAMIDE	4	2
TACROLIMUS ANHYDROUS	4	2
VINBLASTINE	4	2
ALDESLEUKIN	4	1
ARSENIC TRIOXIDE	4	1
AZATHIOPRINE	4	1
BRODALUMAB	4	1
CABOZANTINIB	4	1
CISPLATIN	4	1
COBIMETINIB	4	1
COSIBELIMAB	4	1
CYCLOSPORINE	4	1
DACARBAZINE	4	1
DOSTARLIMAB	4	1
ENCORAFENIB	4	1
EVEROLIMUS	4	1
FINGOLIMOD	4	1
FINGOLIMOD HYDROCHLORIDE	4	1
GEFITINIB	4	1
IMIQUIMOD	4	1
ITRACONAZOLE	4	1
LIFILEUCEL	4	1
MELOXICAM	4	1
MELPHALAN	4	1
METHYL AMINOLEVULINATE	4	1