Skin carcinoma in situ
diseaseOn this page
Also known as carcinoma in situ of skincarcinoma in situ of the skincarcinoma in situ of zone of skincarcinoma of skin stage 0carcinoma of the skin stage 0cutaneous carcinoma in situnonmelanoma carcinoma in situskin cancer stage 0skin carcinoma stage 0stage 0 nonmelanoma skin carcinoma in situstage 0 skin cancerstage 0 skin cancer aJCC v6stage 0 skin cancer aJCC v7stage 0 skin carcinomastage 0 zone of skin carcinomazone of skin carcinoma in situzone of skin in situ carcinoma
Summary
Skin carcinoma in situ (MONDO:0004641) is a cancer with 2 GWAS associations across 12 studies. A subtype of skin carcinoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- GWAS associations: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | skin carcinoma in situ |
| Mondo ID | MONDO:0004641 |
| DOID | DOID:8687 |
| ICD-10-CM | D04 |
| NCIT | C3640 |
| SNOMED CT | 92749008 |
| UMLS | C0154073 |
| MedGen | 102308 |
| Anatomy (UBERON) | UBERON:0000014 |
| Is cancer (heuristic) | yes |
Also known as: carcinoma in situ of skin · carcinoma in situ of the skin · carcinoma in situ of zone of skin · carcinoma of skin stage 0 · carcinoma of the skin stage 0 · cutaneous carcinoma in situ · nonmelanoma carcinoma in situ · skin cancer stage 0 · skin carcinoma in situ · skin carcinoma stage 0 · stage 0 nonmelanoma skin carcinoma in situ · stage 0 skin cancer · stage 0 skin cancer aJCC v6 · stage 0 skin cancer aJCC v7 · stage 0 skin carcinoma · stage 0 zone of skin carcinoma · zone of skin carcinoma in situ · zone of skin in situ carcinoma
Data availability: 2 GWAS associations (12 studies).
Disease family
This is a subtype of skin carcinoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system cancer › skin cancer › skin carcinoma › skin carcinoma in situ
Related subtypes (12): labia minora carcinoma, labia majora carcinoma, skin squamous cell carcinoma, cutaneous Paget disease, anal margin carcinoma, cutaneous mucoepidermoid carcinoma, eyelid carcinoma, Borst-Jadassohn intraepidermal carcinoma, skin basal cell carcinoma, vulvar seborrheic keratosis, skin appendage carcinoma, cutaneous neuroendocrine carcinoma
Subtypes (1): skin squamous cell carcinoma in situ
Genetics & variants
GWAS landscape
2 GWAS associations across 12 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12203592 | 6e-12 | IRF4 | ? | 1.44 |
| rs146928446 | 3e-09 | RN7SL51P - RN7SL18P | C | 7.73 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481498 | Verma A | 2024 | 5,541 | 437,249 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079127 | Backman JD | 2021 | 1,322 | 72,908 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083113 | Backman JD | 2021 | 1,322 | 72,908 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079645 | Backman JD | 2021 | 973 | 386,773 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083631 | Backman JD | 2021 | 973 | 386,773 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90435598 | Zhou W | 2018 | 667 | 395,071 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90043923 | Jiang L | 2021 | 430 | 455,918 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90043920 | Jiang L | 2021 | 277 | 456,071 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90043922 | Jiang L | 2021 | 218 | 456,130 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90043921 | Jiang L | 2021 | 180 | 456,168 | 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 | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12203592 | 6 | 396321 | C>G,T | 0.05 | intron_variant | IRF4 | 6e-12 | Tier 4: intronic/intergenic |
| rs146928446 | 2 | 62309637 | T>C | 0.002 | intron_variant | RN7SL51P - RN7SL18P | 3e-09 | 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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.