Trait: basal cell carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004193
Description A carcinoma involving the basal cells. [NCIT: C156767]
Trait category
Cancer
Synonyms 6 synonyms
  • Skin Basal Cell Carcinoma
  • basal cell cancer
  • basal cell carcinoma
  • carcinoma, basal cell
  • epithelioma, basal cell
  • malignant basal cell neoplasm
Mapped term(s) 9 mapped terms
  • DOID:2513
  • MESH:D002280
  • MeSH:D002280
  • NCIT:C156767
  • NCIT:C7586
  • NCIt:C2921
  • OMIM:605462
  • OMIM:614740
  • SNOMEDCT:1338007

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000119
(BCC32)
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Basal cell carcinoma basal cell carcinoma 32
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000119/ScoringFiles/PGS000119.txt.gz
PGS000445
(PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 19
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000445/ScoringFiles/PGS000445.txt.gz
PGS000446
(PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 1,111,490
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000446/ScoringFiles/PGS000446.txt.gz
PGS000447
(PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 72
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000447/ScoringFiles/PGS000447.txt.gz
PGS000448
(PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 183
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000448/ScoringFiles/PGS000448.txt.gz
PGS000449
(PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 1,073,162
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000449/ScoringFiles/PGS000449.txt.gz
PGS000450
(PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 8
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000450/ScoringFiles/PGS000450.txt.gz
PGS000451
(PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 2,231
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000451/ScoringFiles/PGS000451.txt.gz
PGS000452
(PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 28
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000452/ScoringFiles/PGS000452.txt.gz
PGS000453
(PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 28
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000453/ScoringFiles/PGS000453.txt.gz
PGS000454
(PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 27
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000454/ScoringFiles/PGS000454.txt.gz
PGS000455
(PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 28
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000455/ScoringFiles/PGS000455.txt.gz
PGS000456
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 30
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000456/ScoringFiles/PGS000456.txt.gz
PGS000457
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 30
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000457/ScoringFiles/PGS000457.txt.gz
PGS000458
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 23
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000458/ScoringFiles/PGS000458.txt.gz
PGS000459
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Basal cell carcinoma basal cell carcinoma 24
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000459/ScoringFiles/PGS000459.txt.gz
PGS000730
(PRS_BCC)
PGP000138 |
Fontanillas P et al. Nat Commun (2021)
Basal cell carcinoma basal cell carcinoma 47
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000730/ScoringFiles/PGS000730.txt.gz - Check Terms/Licenses

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
PPM000347 PGS000119
(BCC32)
PSS000211|
European Ancestry|
149,857 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Skin cancer OR: 1.4 [1.42, 1.48] age, sex, genotyping array, first 4 genotype PCs
PPM001670 PGS000730
(PRS_BCC)
PSS000871|
European Ancestry|
88,924 individuals
PGP000138 |
Fontanillas P et al. Nat Commun (2021)
Reported Trait: Basal cell carcinoma OR: 1.57 [1.55, 1.6] AUROC: 0.624
PPM000344 PGS000119
(BCC32)
PSS000207|
European Ancestry|
20,468 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Skin cancer OR: 1.32 [1.27, 1.36] AUROC: 0.58 [0.56, 0.58] age, sex, batch, PC1-4
PPM000341 PGS000119
(BCC32)
PSS000209|
European Ancestry|
20,468 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Basal cell carcinoma OR: 1.65 [1.56, 1.75] AUROC: 0.64 [0.62, 0.66] age, sex, batch, PC1-4
PPM001130 PGS000445
(PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.334 [1.264, 1.409]
β: 0.289 (0.0278)
AUROC: 0.571 [0.555, 0.587] Nagelkerke's Pseudo-R²: 0.0184
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.72, 3.74]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608
PPM001132 PGS000447
(PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.398 [1.322, 1.477]
β: 0.335 (0.0282)
AUROC: 0.591 [0.575, 0.607] Nagelkerke's Pseudo-R²: 0.0237
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.5 [1.68, 3.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608
PPM001135 PGS000450
(PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.079 [1.022, 1.139]
β: 0.0759 (0.0278)
AUROC: 0.504 [0.489, 0.52] Nagelkerke's Pseudo-R²: 0.00145
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.42 [0.882, 2.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608
PPM001138 PGS000453
(PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608)
PSS000568|
European Ancestry|
60,018 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.511 [1.47, 1.554]
β: 0.413 (0.0142)
AUROC: 0.611 [0.604, 0.619] Nagelkerke's Pseudo-R²: 0.0301
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.8 [2.33, 3.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608
PPM001142 PGS000457
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608)
PSS000568|
European Ancestry|
60,018 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.535 [1.493, 1.579]
β: 0.429 (0.0144)
AUROC: 0.617 [0.609, 0.625] Nagelkerke's Pseudo-R²: 0.0322
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.11 [2.6, 3.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608
PPM001131 PGS000446
(PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.291 [1.221, 1.366]
β: 0.256 (0.0286)
AUROC: 0.575 [0.559, 0.591] Nagelkerke's Pseudo-R²: 0.0139
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.42 [0.871, 2.33]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608
PPM001133 PGS000448
(PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.411 [1.335, 1.491]
β: 0.344 (0.0282)
AUROC: 0.587 [0.57, 0.604] Nagelkerke's Pseudo-R²: 0.0254
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.93 [2.03, 4.25]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608
PPM001134 PGS000449
(PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.093 [1.034, 1.155]
β: 0.0888 (0.0282)
AUROC: 0.525 [0.509, 0.54] Nagelkerke's Pseudo-R²: 0.00141
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.65 [1.04, 2.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608
PPM001136 PGS000451
(PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.144 [1.084, 1.208]
β: 0.135 (0.0278)
AUROC: 0.521 [0.506, 0.536] Nagelkerke's Pseudo-R²: 0.00396
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 2.44 [1.65, 3.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608
PPM001137 PGS000452
(PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.663 [1.57, 1.761]
β: 0.508 (0.0293)
AUROC: 0.632 [0.616, 0.647] Nagelkerke's Pseudo-R²: 0.0487
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.61 [2.53, 5.15]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608
PPM001139 PGS000454
(PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.661 [1.568, 1.759]
β: 0.507 (0.0293)
AUROC: 0.632 [0.616, 0.647] Nagelkerke's Pseudo-R²: 0.0489
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.79 [2.68, 5.35]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608
PPM001140 PGS000455
(PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608)
PSS000568|
European Ancestry|
60,018 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.511 [1.47, 1.554]
β: 0.413 (0.0142)
AUROC: 0.611 [0.604, 0.619] Nagelkerke's Pseudo-R²: 0.0301
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.8 [2.33, 3.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608
PPM001141 PGS000456
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.633 [1.541, 1.729]
β: 0.49 (0.0293)
AUROC: 0.63 [0.615, 0.646] Nagelkerke's Pseudo-R²: 0.0456
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.95 [2.79, 5.58]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608
PPM001143 PGS000458
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608)
PSS000544|
European Ancestry|
11,322 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.634 [1.542, 1.732]
β: 0.491 (0.0296)
AUROC: 0.628 [0.612, 0.644] Nagelkerke's Pseudo-R²: 0.0457
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 4.03 [2.86, 5.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608
PPM001144 PGS000459
(PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608)
PSS000568|
European Ancestry|
60,018 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.528 [1.485, 1.572]
β: 0.424 (0.0144)
AUROC: 0.615 [0.608, 0.623] Nagelkerke's Pseudo-R²: 0.0314
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.05 [2.55, 3.64]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608

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
PSS000207 PheCode 172
[
  • 3,002 cases
  • , 17,466 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000209 Basal cell carcinoma: ICD9-173.01,173.11,173.21,173.31,173.41,173.51,173.61,173.71,173.81,173.91
[
  • 884 cases
  • , 19,584 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000211 PheCode 172
[
  • 13,624 cases
  • , 136,233 controls
]
,
45.9 % Male samples
Mean = 57.7 years
Sd = 8.1 years
European White British Subset UKB
PSS000871 Basal cell carcinoma cases were determined by a baseline survey containing 34 questions regarding personal history of skin cancer(including skin cancer type, age at diagnosis, body location, prescribed treatments and information regarding cancer recurrence)
[
  • 16,184 cases
  • , 72,740 controls
]
,
38.9 % Male samples
European 23andMe
PSS000568 PheCode:172.21; ICD9:173, 173.0, 173.1, 173.2, 173.3, 173.4, 173.5, 173.6, 173.7, 173.8, 173.9; ICD10:C44.0, C44.1, C44.2, C44.3, C44.4, C44.5, C44.6, C44.7, C44.8, C44.9
[
  • 5,450 cases
  • , 54,568 controls
]
European UKB
PSS000544 PheCode:172.21; ICD9CM:173.01, 173.11, 173.21, 173.31, 173.41, 173.51, 173.61, 173.71, 173.81, 173.91; ICD10CM:C44.01, C44.111, C44.112, C44.119, C44.211, C44.212, C44.219, C44.310, C44.311, C44.319, C44.41, C44.510, C44.511, C44.519, C44.611, C44.612, C44.619, C44.711, C44.712, C44.719, C44.81, C44.91
[
  • 1,481 cases
  • , 9,841 controls
]
European MGI