Polygenic Score (PGS) ID: PGS005207

Predicted Trait
Reported Trait Basal cell carcinoma
Mapped Trait(s) basal cell carcinoma (EFO_0004193)
Released in PGS Catalog: May 20, 2025
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Score Details

Score Construction
PGS Name BCC_PRS
Development Method
Name Genome-wide significant SNPs
Parameters NR
Variants
Original Genome Build GRCh38
Number of Variants 29
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000729
Citation (link to publication) Gibson TM et al. Nat Med (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
287,197 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: GCST003726
Europe PMC: 27539887
 287,197 individuals European NR

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
PPM022585 PSS012024|
European Ancestry|
11,220 individuals
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Reported Trait: Risk of basal cell carcinoma in childhood cancer survivors OR: 1.37 [1.29, 1.46] — — childhood cancer diagnosis, ancestry, age at childhood cancer diagnosis, radiation dose to the body region of the second cancer and chemotherapy exposure —

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
PSS012024 — — 11,220 individuals,
49.6 % Male samples
 — European — CCSS, SJLIFE —