Cutaneous Squamous Cell Carcinoma, as genome-wide studies have reported it: 3 positions from 2 studies, the largest recording 16,407 cases and 762,486 controls (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Genome-wide studies have so far placed 3 positions on Cutaneous Squamous Cell Carcinoma, from 2 studies; the GWAS Catalog files the condition as "Cutaneous squamous cell carcinoma". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
Sarin KY et al. 2020, in Nature Communications — Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. The catalogue records its sample as 19,149 cases and 680,049 controls (European ancestry). It contributes 2 positions: rs6791479 (TPRG1), rs10399947 (ARNT). PMID:32041948.
Choquet H et al. 2024, in Communications Biology — Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma. Sample in the catalogue's record: 16,407 cases and 762,486 controls (European ancestry). It contributes one position: rs34302850 (INPP5E). PMID:38182794.
The 3 positions sit in or beside 3 genes: TPRG1, ARNT, INPP5E. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Of all these, rs6791479 in TPRG1 carries the strongest signal: P = 6 × 10-15, in Sarin KY et al. 2020.
Association records say which positions differ, on average, between people with Cutaneous Squamous Cell Carcinoma and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
A genotype does not diagnose Cutaneous Squamous Cell Carcinoma; a clinician does. No guideline uses the 3 variants on this page to predict it, screen for it or confirm it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Cutaneous Squamous Cell Carcinoma comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Cutaneous Squamous Cell Carcinoma. MyGeneLog™. https://www.mygenelog.com/conditions/cutaneous-squamous-cell-carcinoma
In the GWAS Catalog, Cutaneous Squamous Cell Carcinoma is filed as "Cutaneous squamous cell carcinoma". Rather than define it, this page lists the genome-wide findings: 3 positions from 2 studies, each with its study's sample and citation.
Genes play a part: 3 positions have been linked to it, the largest study recording 16,407 cases and 762,486 controls (European ancestry). But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The positions lie in or near 3 genes: TPRG1, ARNT, INPP5E. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Cutaneous Squamous Cell Carcinoma is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.