Trait: melanoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000756
Description A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. [NCIT: C3224]
Trait category
Cancer
Synonyms 5 synonyms
  • Naevocarcinoma
  • malignant melanoma
  • melanoma
  • melanoma (disease)
  • melanoma, malignant
Mapped terms 15 mapped terms
  • DOID:1909
  • EFO:0000756
  • HP:0002861
  • ICDO:8720/3
  • KEGG:05218
  • MESH:D008545
  • MONDO:0005105
  • NCIT:C3224
  • OMIM:155600
  • OMIM:155755
  • ONCOTREE:MEL
  • Orphanet:411533
  • SCTID:372244006
  • UMLS:C0025202
  • UMLS:CN971653
Child trait(s) cutaneous melanoma

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 "melanoma" 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 Scoring File (FTP Link)
PGS000079
(CC_Melanoma)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Melanoma melanoma 24
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000079/ScoringFiles/PGS000079.txt.gz
PGS000118
(MEL29)
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Melanoma melanoma 29
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000118/ScoringFiles/PGS000118.txt.gz
PGS000157
(cGRS_Melanoma)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Melanoma melanoma 17
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000157/ScoringFiles/PGS000157.txt.gz
PGS000339
(PRS22_CM)
PGP000106 |
Law MH et al. Hum Mol Genet (2020)
Cutaneous melanoma cutaneous melanoma 22
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000339/ScoringFiles/PGS000339.txt.gz
PGS000408
(PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000408/ScoringFiles/PGS000408.txt.gz
PGS000409
(PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000409/ScoringFiles/PGS000409.txt.gz
PGS000410
(PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 7
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000410/ScoringFiles/PGS000410.txt.gz
PGS000411
(PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 185
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000411/ScoringFiles/PGS000411.txt.gz
PGS000412
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000412/ScoringFiles/PGS000412.txt.gz
PGS000413
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000413/ScoringFiles/PGS000413.txt.gz
PGS000414
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000414/ScoringFiles/PGS000414.txt.gz
PGS000415
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 505
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000415/ScoringFiles/PGS000415.txt.gz
PGS000416
(PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000416/ScoringFiles/PGS000416.txt.gz
PGS000417
(PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 1,109,519
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000417/ScoringFiles/PGS000417.txt.gz
PGS000418
(PRSWEB_PHECODE172.1_C43_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000418/ScoringFiles/PGS000418.txt.gz
PGS000419
(PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 436
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000419/ScoringFiles/PGS000419.txt.gz
PGS000420
(PRSWEB_PHECODE172.1_D03_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 147
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000420/ScoringFiles/PGS000420.txt.gz
PGS000421
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 18
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000421/ScoringFiles/PGS000421.txt.gz
PGS000422
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 18
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000422/ScoringFiles/PGS000422.txt.gz
PGS000423
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 29
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000423/ScoringFiles/PGS000423.txt.gz
PGS000424
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 27
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000424/ScoringFiles/PGS000424.txt.gz
PGS000425
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000425/ScoringFiles/PGS000425.txt.gz
PGS000426
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000426/ScoringFiles/PGS000426.txt.gz
PGS000427
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000427/ScoringFiles/PGS000427.txt.gz
PGS000428
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000428/ScoringFiles/PGS000428.txt.gz
PGS000429
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000429/ScoringFiles/PGS000429.txt.gz
PGS000430
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000430/ScoringFiles/PGS000430.txt.gz
PGS000431
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 15
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000431/ScoringFiles/PGS000431.txt.gz
PGS000432
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history) melanoma 296
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000432/ScoringFiles/PGS000432.txt.gz
PGS000732
(PRS_Melanoma)
PGP000138 |
Fontanillas P et al. Nat Commun (2021)
Melanoma melanoma 18
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000732/ScoringFiles/PGS000732.txt.gz - Check Terms/Licenses
PGS000743
(PRS_melanoma)
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Melanoma melanoma 45
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000743/ScoringFiles/PGS000743.txt.gz
PGS000744
(PRS_melanoma_pigment.pathway)
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Melanoma melanoma 31
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000744/ScoringFiles/PGS000744.txt.gz
PGS000745
(PRS_melanoma_telomere.pathway)
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Melanoma melanoma 9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000745/ScoringFiles/PGS000745.txt.gz
PGS000766
(PRS56_CM)
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Cutaneous melanoma cutaneous melanoma 56
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000766/ScoringFiles/PGS000766.txt.gz
PGS000790
(CC_Melanoma_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Melanoma melanoma 24
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000790/ScoringFiles/PGS000790.txt.gz
PGS000813
(PRS46_melanoma)
PGP000197 |
Potjer TP et al. J Med Genet (2020)
melanoma melanoma 46
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000813/ScoringFiles/PGS000813.txt.gz
PGS001304
(GBE_cancer1059)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Melanoma (malignant) melanoma 116
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001304/ScoringFiles/PGS001304.txt.gz
PGS002246
(Melanoma_PRS50)
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Melanoma melanoma 50
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002246/ScoringFiles/PGS002246.txt.gz
PGS002247
(Melanoma_PRS68)
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Melanoma melanoma 68
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002247/ScoringFiles/PGS002247.txt.gz
PGS002253
(Melanoma_PRS45)
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Melanoma melanoma 45
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002253/ScoringFiles/PGS002253.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
PPM000199 PGS000079
(CC_Melanoma)
PSS000118|
European Ancestry|
417,136 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Melanoma OR: 1.44 [1.41, 1.48] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002045 PGS000079
(CC_Melanoma)
PSS001018|
European Ancestry|
392,803 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident melanoma HR: 1.43 [1.36, 1.49] AUROC: 0.652
C-index: 0.663 (0.008)
Age at assessment, sex, genotyping array, PCs(1-15), frequency of UV protection use (always vs. most times vs. never out in the sun vs. never), time outdoors in summer (hours per day), ease of tanning (very easily, vs. moderate vs mild vs. mostly burn) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM000342 PGS000118
(MEL29)
PSS000207|
European Ancestry|
20,468 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Skin cancer OR: 1.3 [1.26, 1.34] AUROC: 0.57 [0.56, 0.58] age, sex, batch, PC1-4
PPM000339 PGS000118
(MEL29)
PSS000206|
European Ancestry|
20,468 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Melanoma OR: 1.48 [1.41, 1.56] AUROC: 0.61 [0.59, 0.62] age, sex, batch, PC1-4
PPM000348 PGS000118
(MEL29)
PSS000210|
European Ancestry|
29,898 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Melanoma OR: 1.5 [1.44, 1.55] age, sex, genotyping array, first 4 genotype PCs
PPM000345 PGS000118
(MEL29)
PSS000211|
European Ancestry|
149,857 individuals
PGP000055 |
Fritsche LG et al. PLoS Genet (2019)
Reported Trait: Skin cancer OR: 1.2 [1.22, 1.36] age, sex, genotyping array, first 4 genotype PCs
PPM000488 PGS000157
(cGRS_Melanoma)
PSS000277|
European Ancestry|
13,877 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Melanoma Odds Ratio (OR; high vs. average risk groups): 1.72 [1.37, 2.16]
PPM000477 PGS000157
(cGRS_Melanoma)
PSS000277|
European Ancestry|
13,877 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Melanoma Mean realative risk: 1.2 [1.14, 1.26]
Wilcoxon test (case vs. control) p-value: 5.99e-11
PPM000922 PGS000339
(PRS22_CM)
PSS000464|
European Ancestry|
1,885 individuals
PGP000106 |
Law MH et al. Hum Mol Genet (2020)
Reported Trait: Cutaneous melanoma in multiplex melanoma families Difference of PRS (deltaPRS; unaffected melanoma family members vs. unrelated controls): 0.347 (0.104) PCs (1-10) *Sample overlap between the controls used in this analysis and score development
PPM000921 PGS000339
(PRS22_CM)
PSS000463|
European Ancestry|
3,066 individuals
PGP000106 |
Law MH et al. Hum Mol Genet (2020)
Reported Trait: Cutaneous melanoma in multiplex melanoma families Difference of PRS (deltaPRS; melanoma family cases vs. unrelated controls): 0.505 (0.036) PCs (1-10) *Sample overlap between the controls used in this analysis and score development
PPM001093 PGS000408
(PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.384 [1.311, 1.461]
β: 0.325 (0.0276)
AUROC: 0.576 [0.561, 0.593] Nagelkerke's Pseudo-R²: 0.0217
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.25 [1.48, 3.42]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608
PPM001094 PGS000409
(PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.192 [1.126, 1.263]
β: 0.176 (0.0292)
AUROC: 0.547 [0.531, 0.563] Nagelkerke's Pseudo-R²: 0.0061
Brier score: 0.0966
Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.25, 3.02]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608
PPM001095 PGS000410
(PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.399 [1.327, 1.476]
β: 0.336 (0.0272)
AUROC: 0.578 [0.562, 0.594] Nagelkerke's Pseudo-R²: 0.0239
Brier score: 0.0956
Odds Ratio (OR, top 1% vs. Rest): 2.65 [1.79, 3.93]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608
PPM001096 PGS000411
(PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.378 [1.308, 1.451]
β: 0.32 (0.0265)
AUROC: 0.571 [0.555, 0.587] Nagelkerke's Pseudo-R²: 0.0222
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.0 [1.29, 3.09]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608
PPM001097 PGS000412
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.414 [1.338, 1.495]
β: 0.347 (0.0282)
AUROC: 0.585 [0.569, 0.6] Nagelkerke's Pseudo-R²: 0.0236
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 3.26 [2.26, 4.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608
PPM001098 PGS000413
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.27 [1.199, 1.346]
β: 0.239 (0.0294)
AUROC: 0.568 [0.552, 0.584] Nagelkerke's Pseudo-R²: 0.0109
Brier score: 0.0964
Odds Ratio (OR, top 1% vs. Rest): 2.09 [1.35, 3.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608
PPM001099 PGS000414
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.44 [1.363, 1.522]
β: 0.365 (0.0283)
AUROC: 0.593 [0.576, 0.609] Nagelkerke's Pseudo-R²: 0.026
Brier score: 0.0954
Odds Ratio (OR, top 1% vs. Rest): 2.97 [2.02, 4.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608
PPM001100 PGS000415
(PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.391 [1.318, 1.467]
β: 0.33 (0.0272)
AUROC: 0.578 [0.562, 0.595] Nagelkerke's Pseudo-R²: 0.0227
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.34 [1.55, 3.53]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608
PPM001101 PGS000416
(PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.473 [1.394, 1.557]
β: 0.388 (0.0282)
AUROC: 0.598 [0.582, 0.613] Nagelkerke's Pseudo-R²: 0.0297
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.88 [1.96, 4.21]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608
PPM001102 PGS000417
(PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.228 [1.159, 1.3]
β: 0.205 (0.0294)
AUROC: 0.556 [0.541, 0.571] Nagelkerke's Pseudo-R²: 0.00812
Brier score: 0.0965
Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.2, 2.95]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608
PPM001103 PGS000418
(PRSWEB_PHECODE172.1_C43_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.473 [1.394, 1.557]
β: 0.388 (0.0282)
AUROC: 0.598 [0.582, 0.613] Nagelkerke's Pseudo-R²: 0.0297
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.88 [1.96, 4.21]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_PT_MGI_20200608
PPM001104 PGS000419
(PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.348 [1.279, 1.421]
β: 0.299 (0.0268)
AUROC: 0.565 [0.549, 0.583] Nagelkerke's Pseudo-R²: 0.0188
Brier score: 0.0959
Odds Ratio (OR, top 1% vs. Rest): 1.93 [1.24, 3.0]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608
PPM001105 PGS000420
(PRSWEB_PHECODE172.1_D03_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.066 [1.007, 1.128]
β: 0.0639 (0.029)
AUROC: 0.516 [0.5, 0.533] Nagelkerke's Pseudo-R²: 0.00074
Brier score: 0.0969
Odds Ratio (OR, top 1% vs. Rest): 1.07 [0.603, 1.9]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_D03_PT_MGI_20200608
PPM001106 PGS000421
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.37, 1.541]
β: 0.374 (0.03)
AUROC: 0.6 [0.584, 0.616] Nagelkerke's Pseudo-R²: 0.0257
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.39 [1.58, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608
PPM001107 PGS000422
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608)
PSS000567|
European Ancestry|
14,482 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.539 [1.454, 1.629]
β: 0.431 (0.029)
AUROC: 0.615 [0.599, 0.63] Nagelkerke's Pseudo-R²: 0.0332
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.57 [1.75, 3.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608
PPM001108 PGS000423
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx β: 0.394 (0.0301)
OR: 1.484 [1.399, 1.574]
AUROC: 0.608 [0.592, 0.623] Nagelkerke's Pseudo-R²: 0.0289
Brier score: 0.0954
Odds Ratio (OR, top 1% vs. Rest): 2.93 [2.0, 4.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608
PPM001109 PGS000424
(PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608)
PSS000567|
European Ancestry|
14,482 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.563 [1.475, 1.656]
β: 0.447 (0.0294)
AUROC: 0.619 [0.603, 0.634] Nagelkerke's Pseudo-R²: 0.035
Brier score: 0.0812
Odds Ratio (OR, top 1% vs. Rest): 3.12 [2.18, 4.47]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608
PPM001110 PGS000425
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.369, 1.542]
β: 0.374 (0.0304)
AUROC: 0.601 [0.585, 0.617] Nagelkerke's Pseudo-R²: 0.0255
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.7, 3.8]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608
PPM001111 PGS000426
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608)
PSS000567|
European Ancestry|
14,482 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.551 [1.463, 1.643]
β: 0.439 (0.0296)
AUROC: 0.62 [0.604, 0.635] Nagelkerke's Pseudo-R²: 0.0335
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.81 [1.93, 4.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608
PPM001112 PGS000427
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.369, 1.542]
β: 0.374 (0.0304)
AUROC: 0.601 [0.585, 0.617] Nagelkerke's Pseudo-R²: 0.0255
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.7, 3.8]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608
PPM001113 PGS000428
(PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608)
PSS000567|
European Ancestry|
14,482 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.551 [1.463, 1.643]
β: 0.439 (0.0296)
AUROC: 0.62 [0.604, 0.635] Nagelkerke's Pseudo-R²: 0.0335
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.81 [1.93, 4.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608
PPM001114 PGS000429
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.503 [1.422, 1.589]
β: 0.408 (0.0284)
AUROC: 0.606 [0.591, 0.622] Nagelkerke's Pseudo-R²: 0.0332
Brier score: 0.0951
Odds Ratio (OR, top 1% vs. Rest): 2.62 [1.77, 3.88]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608
PPM001115 PGS000430
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.219 [1.151, 1.292]
β: 0.198 (0.0296)
AUROC: 0.555 [0.54, 0.573] Nagelkerke's Pseudo-R²: 0.00721
Brier score: 0.0965
Odds Ratio (OR, top 1% vs. Rest): 1.64 [1.01, 2.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608
PPM001116 PGS000431
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.486 [1.405, 1.571]
β: 0.396 (0.0285)
AUROC: 0.604 [0.587, 0.62] Nagelkerke's Pseudo-R²: 0.0312
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.97 [2.04, 4.34]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608
PPM001117 PGS000432
(PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608)
PSS000543|
European Ancestry|
11,974 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.391 [1.318, 1.467]
β: 0.33 (0.0273)
AUROC: 0.582 [0.566, 0.599] Nagelkerke's Pseudo-R²: 0.0228
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 1.99 [1.29, 3.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608
PPM001672 PGS000732
(PRS_Melanoma)
PSS000872|
European Ancestry|
88,924 individuals
PGP000138 |
Fontanillas P et al. Nat Commun (2021)
Reported Trait: Melanoma OR: 1.33 [1.29, 1.37] AUROC: 0.579
PPM001827 PGS000743
(PRS_melanoma)
PSS000928|
European Ancestry|
1,460 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.63 [1.46, 1.83] Odds Ratio (OR, top vs. bottom tertile): 2.84 [2.14, 3.77]
Odds Ratio (OR, top vs. bottom decile): 5.62 [3.41, 9.29]
Age, sex, self reported European ancestry Overlap between testing and score development samples, testing <10% of score development
PPM001829 PGS000743
(PRS_melanoma)
PSS000928|
European Ancestry|
1,460 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma AUROC: 0.68 [0.65, 0.71] Traditional risk factors (hair colour, skin colour, eye colour, freckling as an adult, skin photosensitivity, self reported nevi, sunbed use, keratinocyte cancer personal history, first degree family history of melanoma, vacation sun exposure, blistering sunburns as a child), age, sex, self-reported European ancestry
PPM001826 PGS000743
(PRS_melanoma)
PSS000927|
European Ancestry|
1,035 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.75 [1.53, 2.01] Odds Ratio (OR, top vs. bottom tertile): 3.22 [2.3, 4.51]
Odds Ratio (OR, top vs. bottom decile): 5.88 [3.14, 11.03]
Age, sex, recruitment city, self-reported European ancestry Overlap between testing and score development samples, testing <10% of score development
PPM001828 PGS000743
(PRS_melanoma)
PSS000927|
European Ancestry|
1,035 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma AUROC: 0.74 [0.71, 0.77] Traditional risk factors (hair colour, skin colour, eye colour, freckling as an adult, skin photosensitivity, self reported nevi, sunbed use, keratinocyte cancer personal history, first degree family history of melanoma, vacation sun exposure, blistering sunburns as a child), age, sex, recruitment city, self-reported European ancestry
PPM001830 PGS000744
(PRS_melanoma_pigment.pathway)
PSS000927|
European Ancestry|
1,035 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.71 [1.49, 1.96] Odds Ratio (OR, top vs. bottom tertile): 3.11 [2.21, 4.36]
Odds Ratio (OR, top vs. bottom decile): 5.75 [3.09, 10.72]
Age, sex, recruitment city, self-reported European ancestry
PPM001831 PGS000744
(PRS_melanoma_pigment.pathway)
PSS000928|
European Ancestry|
1,460 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.66 [1.49, 1.86] Odds Ratio (OR, top vs. bottom tertile): 2.94 [2.23, 3.88]
Odds Ratio (OR, top vs. bottom decile): 7.0 [4.12, 11.88]
Age, sex, self reported European ancestry
PPM001832 PGS000745
(PRS_melanoma_telomere.pathway)
PSS000927|
European Ancestry|
1,035 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.15 [1.01, 1.31] Odds Ratio (OR, top vs. bottom tertile): 1.4 [1.01, 1.93] Age, sex, recruitment city, self-reported European ancestry
PPM001833 PGS000745
(PRS_melanoma_telomere.pathway)
PSS000928|
European Ancestry|
1,460 individuals
PGP000151 |
Cust AE et al. J Invest Dermatol (2018)
Reported Trait: Melanoma OR: 1.18 [1.06, 1.31] Odds Ratio (OR, top vs. bottom tertile): 1.55 [1.19, 2.02]
Odds Ratio (OR, top vs. bottom decile): 2.0 [1.24, 3.23]
Age, sex, self reported European ancestry
PPM001963 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Incident cutaneous melanoma Hazard Ratio (HR, top 20% vs bottom 20%): 2.51 [1.28, 4.92] Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001964 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Incident cutaneous melanoma (males) Hazard Ratio (HR, top 20% vs bottom 20%): 3.7 [1.37, 9.98] Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001965 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Incident cutaneous melanoma (males) Hazard Ratio (HR, middle 60% vs bottom 20%): 2.61 [1.03, 6.63] Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001966 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Prevalent cutaneous melanoma OR: 1.55 [1.42, 1.69] AUROC: 0.64 [0.62, 0.66] Odds Ratio (OR, top 20% vs bottom 20%): 3.66 [2.69, 5.05] Sex, family history Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001967 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Prevalent cutaneous melanoma (males) OR: 1.39 [1.23, 1.57] Family history Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001968 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Prevalent cutaneous melanoma (females) OR: 1.72 [1.53, 1.94] Family history Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM001962 PGS000766
(PRS56_CM)
PSS000982|
European Ancestry|
12,712 individuals
PGP000172 |
Bakshi A et al. J Natl Cancer Inst (2021)
Reported Trait: Incident cutaneous melanoma HR: 1.46 [1.2, 1.77] C-index: 0.643 [0.584, 0.702] Sex, melanoma family history, treatment (aspirin/placebo), age at enrolment, PRS*treatment Only 55 of the 56 SNPs within the PGS were utilised. Rs16891982 was not included as the SNP did not pass imputation quality control.
PPM002061 PGS000790
(CC_Melanoma_IV)
PSS001018|
European Ancestry|
392,803 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident melanoma HR: 1.44 [1.37, 1.5] AUROC: 0.654
C-index: 0.664 (0.008)
: 0.18 Age at assessment, sex, genotyping array, PCs(1-15), frequency of UV protection use (always vs. most times vs. never out in the sun vs. never), time outdoors in summer (hours per day), ease of tanning (very easily, vs. moderate vs mild vs. mostly burn) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002147 PGS000813
(PRS46_melanoma)
PSS001053|
European Ancestry|
3,841 individuals
PGP000197 |
Potjer TP et al. J Med Genet (2020)
Reported Trait: Familial cutaneous melanoma in non-carriers of a CDKN2A mutation OR: 2.12 [1.9, 2.35] AUROC: 0.77 [0.75, 0.79] Odds ratio (OR, top 10% vs. middle 20%): 5.7 [3.93, 8.28] Age, sex
PPM002148 PGS000813
(PRS46_melanoma)
PSS001053|
European Ancestry|
3,841 individuals
PGP000197 |
Potjer TP et al. J Med Genet (2020)
Reported Trait: Single familial cutaneous melanoma in non-carriers of a CDKN2A mutation OR: 1.98 [1.77, 2.22] Age, sex
PPM002149 PGS000813
(PRS46_melanoma)
PSS001053|
European Ancestry|
3,841 individuals
PGP000197 |
Potjer TP et al. J Med Genet (2020)
Reported Trait: Multiple familial cutaneous melanoma in non-carriers of a CDKN2A mutation OR: 2.86 [2.3, 3.55] Age, sex
PPM009015 PGS001304
(GBE_cancer1059)
PSS007646|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malignant melanoma AUROC: 0.87614 [0.73822, 1.0] : 0.05368
Incremental AUROC (full-covars): -0.02217
PGS R2 (no covariates): 0.03909
PGS AUROC (no covariates): 0.20593 [0.13426, 0.2776]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009016 PGS001304
(GBE_cancer1059)
PSS007647|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malignant melanoma AUROC: 0.93529 [0.8865, 0.98409] : 0.24041
Incremental AUROC (full-covars): 0.005
PGS R2 (no covariates): 0.06103
PGS AUROC (no covariates): 0.75412 [0.53449, 0.97374]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009017 PGS001304
(GBE_cancer1059)
PSS007648|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malignant melanoma AUROC: 0.63893 [0.6107, 0.66716] : 0.02462
Incremental AUROC (full-covars): 0.02384
PGS R2 (no covariates): 0.01149
PGS AUROC (no covariates): 0.5909 [0.56008, 0.62173]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009018 PGS001304
(GBE_cancer1059)
PSS007649|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malignant melanoma AUROC: 0.81762 [0.60963, 1.0] : 0.07256
Incremental AUROC (full-covars): 0.03083
PGS R2 (no covariates): 0.04901
PGS AUROC (no covariates): 0.74493 [0.36901, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009019 PGS001304
(GBE_cancer1059)
PSS007650|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malignant melanoma AUROC: 0.60362 [0.58554, 0.6217] : 0.01348
Incremental AUROC (full-covars): 0.0279
PGS R2 (no covariates): 0.00707
PGS AUROC (no covariates): 0.57206 [0.55302, 0.5911]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM012813 PGS002246
(Melanoma_PRS50)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.73 [1.65, 1.81] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk
PPM012816 PGS002246
(Melanoma_PRS50)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.47 [1.3, 1.66] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk
PPM012819 PGS002246
(Melanoma_PRS50)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.678 [0.665, 0.691] : 0.062 [0.053, 0.072] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012822 PGS002246
(Melanoma_PRS50)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.688 [0.657, 0.718] : 0.07 [0.048, 0.096] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012812 PGS002247
(Melanoma_PRS68)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.8 [1.71, 1.88] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk
PPM012815 PGS002247
(Melanoma_PRS68)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.47 [1.31, 1.67] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk
PPM012818 PGS002247
(Melanoma_PRS68)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.685 [0.673, 0.698] : 0.068 [0.059, 0.078] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012821 PGS002247
(Melanoma_PRS68)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.691 [0.661, 0.722] : 0.072 [0.051, 0.1] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012814 PGS002253
(Melanoma_PRS45)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.25 [1.1, 1.42] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk
PPM012817 PGS002253
(Melanoma_PRS45)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.662 [0.649, 0.675] : 0.051 [0.043, 0.06] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012820 PGS002253
(Melanoma_PRS45)
PSS009567|
European Ancestry|
4,765 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma AUROC: 0.653 [0.62, 0.686] : 0.046 [0.028, 0.068] age, sex AUC (and 95% confidence interval) for PRS-adjusted age-sex-specific absolute 10-year risk of invasive melanoma; R2 (and 95% confidence interval) based on 1.5% melanoma prevalence for same risk estimates as AUC (95% confidence interval)
PPM012811 PGS002253
(Melanoma_PRS45)
PSS009568|
European Ancestry|
395,647 individuals
PGP000274 |
Steinberg J et al. Br J Dermatol (2021)
Reported Trait: Incident invasive melanoma HR: 1.61 [1.53, 1.69] age, sex, self-reported ethnicity, ease of tanning, 20 genetic PCs subdistribution hazard ratio (and 95% confidence interval) per 1 sd of PRS on log-scale, based on Fine-Grey competing risks regression with death as competing risk

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
PSS000567 PheCode:172.1; ICD9:-; ICD10:C43.0, C43.1, C43.2, C43.3, C43.4, C43.5, C43.6, C43.7, C43.8, C43.9, D03.0, D03.1, D03.2, D03.3, D03.4, D03.5, D03.6, D03.7, D03.8, D03.9
[
  • 1,317 cases
  • , 13,165 controls
]
European UKB
PSS000463 Unaffected family members from families with increased melaona risk. Recruited families were ranked as low-, medium- or high-risk using a risk index (T) that factored in the number of confirmed cases of melanoma versus number of unaffected family members, ages and year of birth
[
  • 1,292 cases
  • , 1,774 controls
]
,
46.28 % Male samples
European Australia BATS, QFMP
PSS000464 Unaffected family members from families with increased melaona risk. Recruited families were ranked as low-, medium- or high-risk using a risk index (T) that factored in the number of confirmed cases of melanoma versus number of unaffected family members, ages and year of birth
[
  • 111 cases
  • , 1,774 controls
]
,
46.37 % Male samples
European Australia BATS, QFMP
PSS000206 Melanomas of skin : ICD9- 172.0,172.1,172.2,172.3,172.4,172.5,172.6,172.7,172.8,172.9
[
  • 1,279 cases
  • , 19,189 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000207 PheCode 172
[
  • 3,002 cases
  • , 17,466 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS007646
[
  • 2 cases
  • , 6,495 controls
]
African unspecified UKB
PSS007647
[
  • 4 cases
  • , 1,700 controls
]
East Asian UKB
PSS000210 PheCode 172.11
[
  • 2,718 cases
  • , 27,180 controls
]
,
45.9 % Male samples
Mean = 57.7 years
Sd = 8.1 years
European White British Subset UKB
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
PSS007648
[
  • 347 cases
  • , 24,558 controls
]
European non-white British ancestry UKB
PSS007649
[
  • 3 cases
  • , 7,828 controls
]
South Asian UKB
PSS007650
[
  • 913 cases
  • , 66,512 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000277 Primary tumor samples from TCGA
[
  • 450 cases
  • , 0 controls
]
Mean = 59.0 years
Sd = 16.0 years
European TCGA
PSS000277
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
PSS001053 Cases are individuals with cutaneous melanoma with at least one other relative (up to third-degree) with cutaneous melanoma and that do not carry a previously identified germline mutation in the CDKN2A gene. Of the cases, 338 were single melanoma and 80 were multiple primary melanoma.
[
  • 418 cases
  • , 3,423 controls
]
,
44.88 % Male samples
Mean = 55.91 years European
(Dutch)
NBS Cases were recruited from Clinical Genetic Centres throughout the Netherlands.
PSS000927 Cases include invasive cutaneous melanoma diagnoses between ages 18 and 39 years
[
  • 578 cases
  • , 457 controls
]
,
40.0 % Male samples
European AMFS
PSS000928 Cases include histopathologically confirmed invasive melanoma cases in patients between 18 and 82 years.
[
  • 964 cases
  • , 496 controls
]
,
40.0 % Male samples
European LMC
PSS009567 invasive melanoma diagnosis record (ICD10 code C43) in Victorian Cancer Registry or the Australian Cancer Database Mean = 9.7 years
[
  • 303 cases
  • , 4,462 controls
]
,
39.4 % Male samples
Mean = 63.52 years
Sd = 7.21 years
European MCCS
PSS000982 Cases were individuals with cutaneous melanoma. Of the 628 cases, 528 were prevalent melanoma, whilst 98 were incident melanoma cases. Endpoints used were primary invasive cutaneous melanoma and metastatic melanoma with unknown primary location occurring during the trial (incident). Metastatic recurrence was excluded. Incident melanomas were confirmed by expert panel using histopathology, imaging of metastasis or other clinical evidence. If a participant had two events during the trial, the time of the first event was used. Prevalent melanomas occurring pre-trial were self-reported by participants but not confirmed by review of medical records and assumed to be invasive. Age at diagnosis for self-reported melanomas was reported as either before or after 50 years. Median = 4.7 years
[
  • 626 cases
  • , 12,086 controls
]
,
45.0 % Male samples
Mean = 75.0 years
Sd = 4.23 years
European ASPREE
PSS009568 invasive melanoma diagnosis (ICD10 code C43 or ICD9 code 172 for ICD9) in cancer registry records (provided by NHS Digital for England and Wales, and National Records of Scotland, NHS Central Register for Scotland) Mean = 7.16 years
[
  • 1,651 cases
  • , 393,996 controls
]
,
46.4 % Male samples
Mean = 56.91 years
Sd = 7.95 years
European UKB
PSS000872 Melanoma 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)
[
  • 4,179 cases
  • , 84,745 controls
]
,
38.9 % Male samples
European 23andMe
PSS000543 PheCode:172.1; ICD9CM:172.0, 172.1, 172.2, 172.3, 172.4, 172.5, 172.6, 172.7, 172.8, 172.9, V10.82; ICD10CM:C43, C43.0, C43.1, C43.10, C43.11, C43.12, C43.2, C43.20, C43.21, C43.22, C43.3, C43.30, C43.31, C43.39, C43.4, C43.5, C43.51, C43.52, C43.59, C43.6, C43.60, C43.61, C43.62, C43.7, C43.70, C43.71, C43.72, C43.8, C43.9, D03, D03.0, D03.1, D03.10, D03.11, D03.12, D03.2, D03.20, D03.21, D03.22, D03.3, D03.30, D03.39, D03.4, D03.5, D03.51, D03.52, D03.59, D03.6, D03.60, D03.61, D03.62, D03.7, D03.70, D03.71, D03.72, D03.8, D03.9
[
  • 1,325 cases
  • , 10,649 controls
]
European MGI
PSS001018 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 1,805 cases
  • , 390,998 controls
]
European UKB
PSS000118 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 25010
[
  • 6,782 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 years European GERA, UKB