Polygenic Score (PGS) ID: PGS000784

Predicted Trait
Reported Trait Cervical cancer
Mapped Trait(s) cervical carcinoma (EFO_0001061)
Released in PGS Catalog: May 28, 2021
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Score Details

Score Construction
PGS Name CC_Cervix_IV
Development Method
Name 10 variants from Graff et al (PGS000073) with inverse variant weights
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 10
Effect Weight Type Inverse-variance weighting
PGS Source
PGS Catalog Publication (PGP) ID PGP000186
Citation (link to publication) Kachuri L et al. Nat Commun (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
20,405 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST003565
Europe PMC: 27285765
6,076 individuals European NR
GWAS Catalog: GCST004833
Europe PMC: 28806749
9,347 individuals European NCI, Seattle, Umea, WTCCC
GWAS Catalog: GCST001900
Europe PMC: 23482656
4,982 individuals European TwinGene

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
PPM002055 PSS001012|
European Ancestry|
211,795 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident cervical cancer HR: 1.21 [1.07, 1.35] AUROC: 0.745
C-index: 0.749 (0.017)
: 0.437 Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.

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
PSS001012 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 282 cases
  • , 211,513 controls
]
,
0.0 % Male samples
European UKB