PGS Publication: PGP000635

Publication Information (EuropePMC)
Title Polygenic Risk and Chemotherapy-Related Subsequent Malignancies in Childhood Cancer Survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report.
PubMed ID 37459583(Europe PMC)
doi 10.1200/jco.23.00428
Publication Date July 17, 2023
Journal J Clin Oncol
Author(s) Im C, Sharafeldin N, Yuan Y, Wang Z, Sapkota Y, Lu Z, Spector LG, Howell RM, Arnold MA, Hudson MM, Ness KK, Robison LL, Bhatia S, Armstrong GT, Neglia JP, Yasui Y, Turcotte LM.
Released in PGS Catalog: May 22, 2024

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:
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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

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)
PGS000356
(PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Any cancer cancer 179
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000356/ScoringFiles/PGS000356.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
PPM021339 PGS000356
(PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_LASSOSUM_MGI_20200608)
PSS011694|
European Ancestry|
4,322 individuals
PGP000635 |
Im C et al. J Clin Oncol (2023)
|Ext.
Reported Trait: Subsequent malignant neoplasm in nonirridated childhood cancer survivors HR: 1.28 [1.13, 1.45] Sex, age at diagnosis, 5 PCs, study cohort, treatment, and doses of alkylating agents, anthracyclines, epipodophyllotoxins, and platinums
PPM021337 PGS000356
(PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_LASSOSUM_MGI_20200608)
PSS011696|
European Ancestry|
9,895 individuals
PGP000635 |
Im C et al. J Clin Oncol (2023)
|Ext.
Reported Trait: Subsequent malignant neoplasm in childhood cancer survivors HR: 1.11 [1.05, 1.17] Sex, age at diagnosis, 5 PCs, radiation therapy and chemotherapy dosages, cohort/batch effects
PPM021338 PGS000356
(PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_LASSOSUM_MGI_20200608)
PSS011695|
African Ancestry|
718 individuals
PGP000635 |
Im C et al. J Clin Oncol (2023)
|Ext.
Reported Trait: Subsequent malignant neoplasm in childhood cancer survivors HR: 1.01 [0.66, 1.55] Sex, age at diagnosis, 5 PCs, radiation therapy and chemotherapy dosages, cohort/batch effects
PPM021340 PGS000356
(PRSWEB_PHECODE10001_UKBB-SAIGE-HRC-X10001_LASSOSUM_MGI_20200608)
PSS011693|
African Ancestry|
414 individuals
PGP000635 |
Im C et al. J Clin Oncol (2023)
|Ext.
Reported Trait: Subsequent malignant neoplasm in nonirridated childhood cancer survivors HR: 0.86 [0.35, 2.13] Sex, age at diagnosis, 5 PCs, study cohort, treatment, and doses of alkylating agents, anthracyclines, epipodophyllotoxins, and platinums

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
PSS011694
[
  • 259 cases
  • , 4,063 controls
]
European CCSS, SJLIFE
PSS011695 718 individuals,
49.4 % Male samples
African unspecified CCSS, SJLIFE
PSS011696 9,895 individuals,
49.8 % Male samples
European CCSS, SJLIFE
PSS011693
[
  • 9 cases
  • , 405 controls
]
African unspecified CCSS, SJLIFE