| Publication Information (EuropePMC) | |
| Title | Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals. |
| PubMed ID | 33837773(Europe PMC) |
| doi | 10.1093/jnci/djab076 |
| Publication Date | April 10, 2021 |
| Journal | J Natl Cancer Inst |
| Author(s) | Bakshi A, Yan M, Riaz M, Polekhina G, Orchard SG, Tiller J, Wolfe R, Joshi A, Cao Y, McInerney-Leo A... M, Yanes T, Janda M, Soyer HP, Cust AE, Law MH, Gibbs P, McLean C, Chan AT, McNeil JJ, Mar VJ, Lacaze P.Show more |
Polygenic Score ID & Name
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PGS Publication ID (PGP)
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Reported Trait
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Mapped Trait(s) (Ontology)
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Number of Variants
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Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link)
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|---|---|---|---|---|---|---|
| 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 |
PGS Performance Metric ID (PPM) |
Evaluated Score
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PGS Sample Set ID (PSS) |
Performance Source
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Trait
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PGS Effect Sizes (per SD change) |
Classification Metrics
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Other Metrics
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Covariates Included in the Model
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PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| 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.Show more |
| 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.Show more |
| 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.Show more |
| 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.Show more |
| 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.Show more |
| 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.Show more |
| 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.Show more |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods
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Participant Follow-up Time
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Sample Numbers
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Age of Study Participants
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Sample Ancestry
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Additional Ancestry Description
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Cohort(s)
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Additional Sample/Cohort Information
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|---|---|---|---|---|---|---|---|---|
| PSS000982 | Cases were individuals with cutaneous melanoma. Of the 628 cases, 528 were prevalent melanoma, whils... t 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.Show more | Median = 4.7 years | [ ,
45.0 % Male samples | Mean = 75.0 years Sd = 4.23 years | European | — | ASPREE | — |