Trait: non-melanoma skin carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009260
Description Any skin carcinoma that is not melanoma, with the most common types being basal cell carcinoma and squamous cell carcinoma
Trait category
Other trait
Synonyms 3 synonyms
  • non-melanoma skin cancer
  • nonmelanoma skin cancer
  • nonmelanoma skin carcinoma
Mapped term MedDRA:10007116
Child trait(s) keratinocyte carcinoma

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "non-melanoma skin carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001040
(GBE_cancer1060)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Non melanoma skin cancer non-melanoma skin carcinoma 1,610
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001040/ScoringFiles/PGS001040.txt.gz
PGS004592
(PRS_KC)
 PGP000571 |
Liyanage UE et al. J Eur Acad Dermatol Venereol (2022)
 Keratinocyte cancer keratinocyte carcinoma 78
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004592/ScoringFiles/PGS004592.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM007958 PGS001040
(GBE_cancer1060)
 PSS007651|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Non-melanoma skin cancer — AUROC: 0.80478 [0.72556, 0.884] R²: 0.07029
Incremental AUROC (full-covars): -0.00066
PGS R2 (no covariates): 0.00133
PGS AUROC (no covariates): 0.54127 [0.39017, 0.69237]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007959 PGS001040
(GBE_cancer1060)
 PSS007652|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Non-melanoma skin cancer — AUROC: 0.86455 [0.80574, 0.92335] R²: 0.12918
Incremental AUROC (full-covars): -0.00442
PGS R2 (no covariates): 0.00152
PGS AUROC (no covariates): 0.4523 [0.1694, 0.73519]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007960 PGS001040
(GBE_cancer1060)
 PSS007653|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Non-melanoma skin cancer — AUROC: 0.73342 [0.72065, 0.74619] R²: 0.10751
Incremental AUROC (full-covars): 0.0378
PGS R2 (no covariates): 0.05185
PGS AUROC (no covariates): 0.66327 [0.64889, 0.67765]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007961 PGS001040
(GBE_cancer1060)
 PSS007654|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Non-melanoma skin cancer — AUROC: 0.76366 [0.66832, 0.85901] R²: 0.06447
Incremental AUROC (full-covars): -0.00934
PGS R2 (no covariates): 0.00078
PGS AUROC (no covariates): 0.47181 [0.35611, 0.58752]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007962 PGS001040
(GBE_cancer1060)
 PSS007655|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Non-melanoma skin cancer — AUROC: 0.70656 [0.69863, 0.7145] R²: 0.08615
Incremental AUROC (full-covars): 0.04717
PGS R2 (no covariates): 0.03949
PGS AUROC (no covariates): 0.64209 [0.6334, 0.65078]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM018463 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Ease sunburn β: 0.08836 — R²: 0.01475 — —
PPM018465 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Fitzpatrick scale β: -0.0689 — R²: 0.03786 — —
PPM018459 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Eye colour β: -0.11302 — R²: 0.0106 — —
PPM018460 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Skin colour β: -0.05462 — R²: 0.01757 — —
PPM018461 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Freckles β: 0.09955 — R²: 0.02643 — —
PPM018462 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Ease suntan β: -0.06804 — R²: 0.01892 — —
PPM018464 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Phototype score β: -1.51455 — R²: 0.04441 — —
PPM018466 PGS001040
(GBE_cancer1060)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Blond hair β: 1.14835 — pseudo R²: 0.01006 — —
PPM020722 PGS004592
(PRS_KC)
 PSS011383|
European Ancestry|
998 individuals
 PGP000571 |
Liyanage UE et al. J Eur Acad Dermatol Venereol (2022)
 Reported Trait: Keratinocyte cancer OR: 1.51 [1.3, 1.76] AUROC: 0.74 R²: 0.231 Age, sex, self-reported skin tanning ability, clinical grade of neck elastosis, genotyping batch, first 2 PCs —
PPM020723 PGS004592
(PRS_KC)
 PSS011383|
European Ancestry|
998 individuals
 PGP000571 |
Liyanage UE et al. J Eur Acad Dermatol Venereol (2022)
 Reported Trait: Keratinocyte cancer — — Odds ratio (OR, top PRS quintile vs bottom PRS quintile): 3.45 [2.18, 5.5] Age, sex, self-reported skin tanning ability, clinical grade of neck elastosis, genotyping batch, first 2 PCs —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS007651 — —
[
  • 11 cases
  • , 6,486 controls
]
 — African unspecified — UKB —
PSS007652 — —
[
  • 6 cases
  • , 1,698 controls
]
 — East Asian — UKB —
PSS007653 — —
[
  • 1,442 cases
  • , 23,463 controls
]
 — European non-white British ancestry UKB —
PSS007654 — —
[
  • 18 cases
  • , 7,813 controls
]
 — South Asian — UKB —
PSS007655 — —
[
  • 4,141 cases
  • , 63,284 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS010980 — — 4,797 individuals — European — NR GCAT
PSS011383 — —
[
  • 432 cases
  • , 566 controls
]
,
44.0 % Male samples
 — European — NSCS —