| Publication Information (EuropePMC) | |
| Title | Polygenic Risk Score Improves Risk Stratification and Prediction of Subsequent Thyroid Cancer after Childhood Cancer. |
| PubMed ID | 34465587(Europe PMC) |
| doi | 10.1158/1055-9965.epi-21-0448 |
| Publication Date | Aug. 31, 2021 |
| Journal | Cancer Epidemiol Biomarkers Prev |
| Author(s) | Song N, Liu Q, Wilson CL, Sapkota Y, Ehrhardt MJ, Gibson TM, Morton LM, Chanock SJ, Neglia JP, Arnold MA, Michael JR, Gout AM, Mulder HL, Easton J, Bhatia S, Armstrong GT, Zhang J, Delaney A, Hudson MM, Robison LL, Yasui Y, Wang Z. |
| 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) |
|---|---|---|---|---|---|---|
| PGS001354 (PRS12_TC) |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Thyroid cancer | thyroid carcinoma | 12 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001354/ScoringFiles/PGS001354.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM005178 | PGS001354 (PRS12_TC) |
PSS003603| European Ancestry| 2,370 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors | — | — | Relative Rate (RR): 1.57 [1.24, 1.98] | Attained age modeled by restricted cubic splines | — |
| PPM005179 | PGS001354 (PRS12_TC) |
PSS003603| European Ancestry| 2,370 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors who had received neck radiotherapy | — | — | Relative Rate (RR): 1.68 [1.29, 2.18] | Attained age modeled by restricted cubic splines | — |
| PPM005180 | PGS001354 (PRS12_TC) |
PSS003602| European Ancestry| 6,416 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors | — | — | Relative Rate (RR): 1.52 [1.25, 1.83] | Attained age modeled by restricted cubic splines | — |
| PPM005181 | PGS001354 (PRS12_TC) |
PSS003602| European Ancestry| 6,416 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors who had received neck radiotherapy | — | — | Relative Rate (RR): 1.42 [1.09, 1.85] | Attained age modeled by restricted cubic splines | — |
| PPM005182 | PGS001354 (PRS12_TC) |
PSS003602| European Ancestry| 6,416 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors who had not received neck radiotherapy | — | — | Relative Rate (RR): 1.66 [1.26, 2.2] | Attained age modeled by restricted cubic splines | — |
| PPM005183 | PGS001354 (PRS12_TC) |
PSS003603| European Ancestry| 2,370 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors aged 40 | — | AUROC: 0.83 C-index: 0.842 |
— | Clincial model (age at diagnosis, attained age modeled by restricted cubic splines, sex, combined treatment group) | — |
| PPM005184 | PGS001354 (PRS12_TC) |
PSS003602| European Ancestry| 6,416 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors aged 40 | — | AUROC: 0.73 C-index: 0.73 |
— | Clincial model (age at diagnosis, attained age modeled by restricted cubic splines, sex, combined treatment group) | — |
| PPM005185 | PGS001354 (PRS12_TC) |
PSS003603| European Ancestry| 2,370 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors aged 50 | — | AUROC: 0.82 C-index: 0.834 |
— | Clincial model (age at diagnosis, attained age modeled by restricted cubic splines, sex, combined treatment group) | — |
| PPM005186 | PGS001354 (PRS12_TC) |
PSS003602| European Ancestry| 6,416 individuals |
PGP000251 | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
Reported Trait: Subsequent thyroid cancer in childhood cancer survivors aged 50 | — | AUROC: 0.72 C-index: 0.727 |
— | Clincial model (age at diagnosis, attained age modeled by restricted cubic splines, sex, combined treatment group) | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS003602 | All individuals were childhood cancer survivors. Of the 6,414 childhood cancer survivors, 1,374 had received neck radiotherapy (neck-RT) as a form of treatment. Cases were individuals who developed subsequent thyroid cancer (STC). Cases of STC were ascertained by self-report questionnaires and subsequently confirmed by pathology reports. 73 of the 121 STC cases had received neck-RT as a form of childhood cancer treatment, whilst 48 had not. Of the controls, 1,301 had received neck-RT as a form of childhood cancer treatment. | Median = 36.5 years | [ ,
47.7 % Male samples |
— | European | — | NR | — |
| PSS003603 | All individuals were childhood cancer survivors. Of the 2,370 childhood cancer survivors, 476 had received neck radiotherapy (neck-RT) as a form of treatment. Cases were individuals who developed subsequent thyroid cancer (STC). Cases of STC were clinically ascertained. 47 of the 65 STC cases had received neck-RT as a form of childhood cancer treatment, whilst 18 had not. | Median = 36.6 years IQR = [30.3, 44.1] years |
[ ,
53.4 % Male samples |
— | European | — | SJCRH | — |