Polygenic Score (PGS) ID: PGS000743

Predicted Trait
Reported Trait Melanoma
Mapped Trait(s) melanoma (EFO_0000756)
Released in PGS Catalog: March 22, 2021
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Score Details

Score Construction
PGS Name PRS_melanoma
Variants
Original Genome Build NR
Number of Variants 45
Development Method
Name Genome-wide significant SNPs
Parameters SNPs with previously confirmed melanoma risk
PGS Source
PGS Catalog Publication (PGP) ID PGP000151
Citation (link to publication) Cust AE et al. J Invest Dermatol (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
36,077 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST003061
Europe PMC: 26237428
36,077 individuals European

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)
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
PPM001827 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 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 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 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

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
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