PGS Publication: PGP000729

Publication Information (EuropePMC)
Title Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.
PubMed ID 38454124(Europe PMC)
doi 10.1038/s41591-024-02837-7
Publication Date March 7, 2024
Journal Nat Med
Author(s) Gibson TM, Karyadi DM, Hartley SW, Arnold MA, Berrington de Gonzalez A, Conces MR, Howell RM, Kapoor V, Leisenring WM, Neglia JP, Sampson JN, Turcotte LM, Chanock SJ, Armstrong GT, Morton LM.
Released in PGS Catalog: May 20, 2025

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

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005209
(SCC_PRS)
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Squamous cell carcinoma squamous cell carcinoma 20
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005209/ScoringFiles/PGS005209.txt.gz
PGS005208
(Melanoma_PRS)
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Melanoma melanoma 67
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005208/ScoringFiles/PGS005208.txt.gz
PGS005207
(BCC_PRS)
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Basal cell carcinoma basal cell carcinoma 29
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005207/ScoringFiles/PGS005207.txt.gz
PGS005210
(Thyroid_PRS)
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Thyroid cancer thyroid carcinoma 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005210/ScoringFiles/PGS005210.txt.gz

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000004
(PRS313_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.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
PPM022585 PGS005207
(BCC_PRS)
 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 —
PPM022586 PGS000004
(PRS313_BC)
 PSS012024|
European Ancestry|
11,220 individuals
 PGP000729 |
Gibson TM et al. Nat Med (2024)
|Ext.		 Reported Trait: Risk of breast cancer in childhood cancer survivors OR: 1.42 [1.27, 1.58] — — childhood cancer diagnosis, ancestry, age at childhood cancer diagnosis, radiation dose to the body region of the second cancer and chemotherapy exposure —
PPM022587 PGS005210
(Thyroid_PRS)
 PSS012024|
European Ancestry|
11,220 individuals
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Reported Trait: Risk of thyroid cancer in childhood cancer survivors OR: 1.48 [1.31, 1.67] — — childhood cancer diagnosis, ancestry, age at childhood cancer diagnosis, radiation dose to the body region of the second cancer and chemotherapy exposure —
PPM022588 PGS005209
(SCC_PRS)
 PSS012024|
European Ancestry|
11,220 individuals
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Reported Trait: Risk of squamous cell carcinoma in childhood cancer survivors OR: 1.2 [1.0, 1.44] — — childhood cancer diagnosis, ancestry, age at childhood cancer diagnosis, radiation dose to the body region of the second cancer and chemotherapy exposure —
PPM022589 PGS005208
(Melanoma_PRS)
 PSS012024|
European Ancestry|
11,220 individuals
 PGP000729 |
Gibson TM et al. Nat Med (2024)
 Reported Trait: Risk of melanoma in childhood cancer survivors OR: 1.6 [1.31, 1.67] — — 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 —