| Predicted Trait | |
| Reported Trait | Thyroid cancer |
| Mapped Trait(s) | thyroid carcinoma (EFO_0002892) |
| Score Construction | |
| PGS Name | PRS12_TC |
| Development Method | |
| Name | Variants significantly associated with thyroid cancer |
| Parameters | Associations in European ancestry |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 12 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000251 |
| Citation (link to publication) | Song N et al. Cancer Epidemiol Biomarkers Prev (2021) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 290,551 individuals (100%) |
| PGS Evaluation | European: 100% 2 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST004144 Europe PMC: 28195142 |
290,551 individuals | European | ICR, NBS, ODZH, RUNMC, deCODE |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM005178 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | — |