Trait: thyroid carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002892
Description A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. [NCIT: C4815]
Trait category
Cancer
Synonyms 11 synonyms
  • cancer of the thyroid
  • cancer of thyroid
  • carcinoma of the thyroid
  • carcinoma of the thyroid gland
  • carcinoma of thyroid
  • carcinoma of thyroid gland
  • head and neck cancer, thyroid
  • thyroid cancer
  • thyroid carcinoma
  • thyroid gland cancer
  • thyroid gland carcinoma
Mapped terms 8 mapped terms
  • DOID:3963
  • EFO:1000586
  • HP:0002890
  • MedDRA:10007476
  • NCIT:C4815
  • Orphanet:100088
  • SCTID:448216007
  • UMLS:C0549473

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000087
(CC_Thyroid)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Thyroid cancer thyroid carcinoma 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000087/ScoringFiles/PGS000087.txt.gz
PGS000162
(cGRS_Thyroid)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Thyroid cancer thyroid carcinoma 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000162/ScoringFiles/PGS000162.txt.gz
PGS000207
(TC10_Ohio)
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Thyroid cancer thyroid carcinoma 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000207/ScoringFiles/PGS000207.txt.gz
PGS000208
(TC10_Iceland)
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Thyroid cancer thyroid carcinoma 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000208/ScoringFiles/PGS000208.txt.gz
PGS000209
(TC10_UKB)
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Thyroid cancer thyroid carcinoma 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000209/ScoringFiles/PGS000209.txt.gz
PGS000626
(PRSWEB_PHECODE193_20001-1065_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000626/ScoringFiles/PGS000626.txt.gz
PGS000627
(PRSWEB_PHECODE193_C3-THYROID-GLAND_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 11
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000627/ScoringFiles/PGS000627.txt.gz
PGS000628
(PRSWEB_PHECODE193_C3-THYROID-GLAND_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 656
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000628/ScoringFiles/PGS000628.txt.gz
PGS000629
(PRSWEB_PHECODE193_C73_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000629/ScoringFiles/PGS000629.txt.gz
PGS000630
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000630/ScoringFiles/PGS000630.txt.gz
PGS000631
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000631/ScoringFiles/PGS000631.txt.gz
PGS000632
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000632/ScoringFiles/PGS000632.txt.gz
PGS000633
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 5
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000633/ScoringFiles/PGS000633.txt.gz
PGS000634
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000634/ScoringFiles/PGS000634.txt.gz
PGS000635
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 5
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000635/ScoringFiles/PGS000635.txt.gz
PGS000636
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Thyroid cancer thyroid carcinoma 954
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000636/ScoringFiles/PGS000636.txt.gz
PGS000797
(CC_Thyroid_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Thyroid cancer thyroid carcinoma 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000797/ScoringFiles/PGS000797.txt.gz
PGS001289
(GBE_cancer1065)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Thyroid cancer thyroid carcinoma 11
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001289/ScoringFiles/PGS001289.txt.gz
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
PGS001809
(portability-PLR_193)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Thyroid cancer thyroid carcinoma 111
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001809/ScoringFiles/PGS001809.txt.gz
PGS002018
(portability-ldpred2_193)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Thyroid cancer thyroid carcinoma 311,520
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002018/ScoringFiles/PGS002018.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
PPM000207 PGS000087
(CC_Thyroid)
PSS000126|
European Ancestry|
411,118 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Thyroid cancer OR: 1.55 [1.44, 1.67] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002052 PGS000087
(CC_Thyroid)
PSS001025|
European Ancestry|
391,189 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident thyroid cancer HR: 1.57 [1.36, 1.82] AUROC: 0.679
C-index: 0.666 (0.023)
Age at assessment, sex,, genotyping array, PCs(1-15), body mass index (BMI <25 vs. 25≤BMI<30, BMI≥30) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM000493 PGS000162
(cGRS_Thyroid)
PSS000282|
European Ancestry|
13,814 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Thyroid cancer Odds Ratio (OR; high vs. average risk groups): 1.7 [1.29, 2.25]
PPM000482 PGS000162
(cGRS_Thyroid)
PSS000282|
European Ancestry|
13,814 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Thyroid cancer Mean realative risk: 1.09 [1.04, 1.15]
Wilcoxon test (case vs. control) p-value: 4e-05
PPM000631 PGS000207
(TC10_Ohio)
PSS000342|
European Ancestry|
3,137 individuals
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Reported Trait: Thyroid cancer AUROC: 0.692 [0.673, 0.71] gender, birth year, family history of disease (1st or 2nd degree relative) AUROC (Clinical factors alone) = 0.585 [0.565 - 0.605]
PPM000632 PGS000208
(TC10_Iceland)
PSS000341|
European Ancestry|
130,279 individuals
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Reported Trait: Thyroid cancer AUROC: 0.751 [0.736, 0.768] gender, birth year, family history of disease (1st or 2nd degree relative) AUROC (Clinical factors alone) = 0.697 [0.680 - 0.714]
PPM000633 PGS000209
(TC10_UKB)
PSS000343|
European Ancestry|
408,479 individuals
PGP000085 |
Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020)
Reported Trait: Thyroid cancer AUROC: 0.694 [0.673, 0.716] gender, birth year AUROC (Clinical factors alone) = 0.629 [0.606 - 0.651]
PPM001311 PGS000626
(PRSWEB_PHECODE193_20001-1065_PT_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.161 [1.048, 1.285]
β: 0.149 (0.052)
AUROC: 0.529 [0.496, 0.559] Nagelkerke's Pseudo-R²: 0.0041
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.44 [1.18, 5.02]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_20001-1065_PT_MGI_20200608
PPM001312 PGS000627
(PRSWEB_PHECODE193_C3-THYROID-GLAND_PT_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.27 [1.148, 1.405]
β: 0.239 (0.0515)
AUROC: 0.56 [0.53, 0.59] Nagelkerke's Pseudo-R²: 0.0107
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 2.42 [1.17, 4.98]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_C3-THYROID-GLAND_PT_MGI_20200608
PPM001313 PGS000628
(PRSWEB_PHECODE193_C3-THYROID-GLAND_LASSOSUM_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.276 [1.155, 1.41]
β: 0.244 (0.0509)
AUROC: 0.565 [0.535, 0.595] Nagelkerke's Pseudo-R²: 0.0114
Brier score: 0.0823
Odds Ratio (OR, top 1% vs. Rest): 1.91 [0.861, 4.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_C3-THYROID-GLAND_LASSOSUM_MGI_20200608
PPM001314 PGS000629
(PRSWEB_PHECODE193_C73_PT_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer β: 0.114 (0.0517)
OR: 1.121 [1.013, 1.24]
AUROC: 0.52 [0.488, 0.55] Nagelkerke's Pseudo-R²: 0.00247
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 2.15 [1.01, 4.59]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_C73_PT_MGI_20200608
PPM001315 PGS000630
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.598 [1.439, 1.775]
β: 0.469 (0.0536)
AUROC: 0.626 [0.597, 0.655] Nagelkerke's Pseudo-R²: 0.0393
Brier score: 0.0811
Odds Ratio (OR, top 1% vs. Rest): 3.53 [1.87, 6.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_MGI_20200608
PPM001316 PGS000631
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_UKB_20200608)
PSS000579|
European Ancestry|
1,778 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.651 [1.41, 1.934]
β: 0.501 (0.0806)
AUROC: 0.636 [0.589, 0.682] Nagelkerke's Pseudo-R²: 0.0478
Brier score: 0.0803
Odds Ratio (OR, top 1% vs. Rest): 4.4 [1.81, 10.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_UKB_20200608
PPM001317 PGS000632
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.568 [1.412, 1.74]
β: 0.45 (0.0532)
AUROC: 0.618 [0.587, 0.647] Nagelkerke's Pseudo-R²: 0.0365
Brier score: 0.0812
Odds Ratio (OR, top 1% vs. Rest): 5.14 [2.94, 8.99]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_MGI_20200608
PPM001318 PGS000633
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_UKB_20200608)
PSS000579|
European Ancestry|
1,778 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.609 [1.38, 1.876]
β: 0.476 (0.0783)
AUROC: 0.628 [0.582, 0.675] Nagelkerke's Pseudo-R²: 0.0447
Brier score: 0.0804
Odds Ratio (OR, top 1% vs. Rest): 4.41 [1.81, 10.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_UKB_20200608
PPM001319 PGS000634
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PRS-CS_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.119 [1.008, 1.241]
β: 0.112 (0.053)
AUROC: 0.535 [0.504, 0.567] Nagelkerke's Pseudo-R²: 0.00228
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.39 [0.562, 3.45]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PRS-CS_MGI_20200608
PPM001320 PGS000635
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PT_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.315 [1.194, 1.448]
β: 0.274 (0.0492)
AUROC: 0.569 [0.538, 0.598] Nagelkerke's Pseudo-R²: 0.0151
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.708, 3.83]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_PT_MGI_20200608
PPM001321 PGS000636
(PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_LASSOSUM_MGI_20200608)
PSS000558|
European Ancestry|
4,270 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Thyroid cancer OR: 1.385 [1.254, 1.529]
β: 0.325 (0.0507)
AUROC: 0.578 [0.548, 0.607] Nagelkerke's Pseudo-R²: 0.0205
Brier score: 0.0819
Odds Ratio (OR, top 1% vs. Rest): 3.21 [1.67, 6.15]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE193_UKBB-SAIGE-HRC-X193_LASSOSUM_MGI_20200608
PPM002068 PGS000797
(CC_Thyroid_IV)
PSS001025|
European Ancestry|
391,189 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident thyroid cancer HR: 1.75 [1.53, 2.01] AUROC: 0.701
C-index: 0.692 (0.022)
: 0.31 Age at assessment, sex,, genotyping array, PCs(1-15), body mass index (BMI <25 vs. 25≤BMI<30, BMI≥30) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM008943 PGS001289
(GBE_cancer1065)
PSS007656|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Thyroid cancer AUROC: 0.72837 [0.59989, 0.85685] : 0.0395
Incremental AUROC (full-covars): 0.01385
PGS R2 (no covariates): 0.0141
PGS AUROC (no covariates): 0.6101 [0.46446, 0.75575]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008944 PGS001289
(GBE_cancer1065)
PSS007657|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Thyroid cancer AUROC: 0.83233 [0.67782, 0.98683] : 0.16699
Incremental AUROC (full-covars): -0.00184
PGS R2 (no covariates): 0.01024
PGS AUROC (no covariates): 0.54057 [0.24283, 0.83831]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008945 PGS001289
(GBE_cancer1065)
PSS007658|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Thyroid cancer AUROC: 0.71465 [0.65621, 0.77309] : 0.04643
Incremental AUROC (full-covars): 0.00897
PGS R2 (no covariates): 0.00455
PGS AUROC (no covariates): 0.55967 [0.48236, 0.63699]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008946 PGS001289
(GBE_cancer1065)
PSS007659|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Thyroid cancer AUROC: 0.71171 [0.57425, 0.84917] : 0.04277
Incremental AUROC (full-covars): 0.00229
PGS R2 (no covariates): 0.00022
PGS AUROC (no covariates): 0.51375 [0.35907, 0.66843]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008947 PGS001289
(GBE_cancer1065)
PSS007660|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Thyroid cancer AUROC: 0.63744 [0.5901, 0.68478] : 0.016
Incremental AUROC (full-covars): 0.03389
PGS R2 (no covariates): 0.01236
PGS AUROC (no covariates): 0.61843 [0.56413, 0.67273]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
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)
PPM009374 PGS001809
(portability-PLR_193)
PSS009279|
European Ancestry|
19,923 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0307 [0.0168, 0.0446] sex, age, birth date, deprivation index, 16 PCs
PPM009377 PGS001809
(portability-PLR_193)
PSS008383|
Greater Middle Eastern Ancestry|
1,197 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.0014 [-0.0586, 0.0557] sex, age, birth date, deprivation index, 16 PCs
PPM009378 PGS001809
(portability-PLR_193)
PSS008161|
South Asian Ancestry|
6,305 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0052 [-0.0195, 0.0299] sex, age, birth date, deprivation index, 16 PCs
PPM009379 PGS001809
(portability-PLR_193)
PSS007948|
East Asian Ancestry|
1,801 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.0121 [-0.0585, 0.0344] sex, age, birth date, deprivation index, 16 PCs
PPM009380 PGS001809
(portability-PLR_193)
PSS007730|
African Ancestry|
2,453 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0102 [-0.0296, 0.0499] sex, age, birth date, deprivation index, 16 PCs
PPM009381 PGS001809
(portability-PLR_193)
PSS008833|
African Ancestry|
3,896 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0008 [-0.0307, 0.0323] sex, age, birth date, deprivation index, 16 PCs
PPM009375 PGS001809
(portability-PLR_193)
PSS009053|
European Ancestry|
4,120 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.0082 [-0.0388, 0.0225] sex, age, birth date, deprivation index, 16 PCs
PPM009376 PGS001809
(portability-PLR_193)
PSS008607|
European Ancestry|
6,640 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0196 [-0.0045, 0.0437] sex, age, birth date, deprivation index, 16 PCs
PPM011018 PGS002018
(portability-ldpred2_193)
PSS009279|
European Ancestry|
19,923 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0295 [0.0157, 0.0434] sex, age, birth date, deprivation index, 16 PCs
PPM011019 PGS002018
(portability-ldpred2_193)
PSS009053|
European Ancestry|
4,120 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.0056 [-0.0362, 0.0251] sex, age, birth date, deprivation index, 16 PCs
PPM011020 PGS002018
(portability-ldpred2_193)
PSS008607|
European Ancestry|
6,640 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0208 [-0.0033, 0.0448] sex, age, birth date, deprivation index, 16 PCs
PPM011021 PGS002018
(portability-ldpred2_193)
PSS008383|
Greater Middle Eastern Ancestry|
1,197 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.0107 [-0.0677, 0.0465] sex, age, birth date, deprivation index, 16 PCs
PPM011022 PGS002018
(portability-ldpred2_193)
PSS008161|
South Asian Ancestry|
6,305 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0149 [-0.0098, 0.0396] sex, age, birth date, deprivation index, 16 PCs
PPM011023 PGS002018
(portability-ldpred2_193)
PSS007948|
East Asian Ancestry|
1,801 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): -0.004 [-0.0505, 0.0424] sex, age, birth date, deprivation index, 16 PCs
PPM011024 PGS002018
(portability-ldpred2_193)
PSS007730|
African Ancestry|
2,453 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0184 [-0.0213, 0.0581] sex, age, birth date, deprivation index, 16 PCs
PPM011025 PGS002018
(portability-ldpred2_193)
PSS008833|
African Ancestry|
3,896 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Thyroid cancer Partial Correlation (partial-r): 0.0029 [-0.0286, 0.0343] sex, age, birth date, deprivation index, 16 PCs

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
PSS000558 PheCode:193; ICD9CM:193, V10.87; ICD10CM:C73
[
  • 389 cases
  • , 3,881 controls
]
European MGI
PSS000126 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 32010
[
  • 764 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 years European GERA, UKB
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
[
  • 121 cases
  • , 6,295 controls
]
,
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
[
  • 65 cases
  • , 2,305 controls
]
,
53.4 % Male samples
European SJCRH
PSS000579 PheCode:193; ICD9:193; ICD10:C73
[
  • 161 cases
  • , 1,617 controls
]
European UKB
PSS009053 4,120 individuals European Poland (NE Europe) UKB
PSS008161 6,305 individuals South Asian India (South Asia) UKB
PSS009279 19,923 individuals European UK (+ Ireland) UKB
PSS007656
[
  • 15 cases
  • , 6,482 controls
]
African unspecified UKB
PSS007657
[
  • 8 cases
  • , 1,696 controls
]
East Asian UKB
PSS007658
[
  • 57 cases
  • , 24,848 controls
]
European non-white British ancestry UKB
PSS007659
[
  • 13 cases
  • , 7,818 controls
]
South Asian UKB
PSS007660
[
  • 104 cases
  • , 67,321 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008833 3,896 individuals African unspecified Nigeria (West Africa) UKB
PSS007948 1,801 individuals East Asian China (East Asia) UKB
PSS008607 6,640 individuals European Italy (South Europe) UKB
PSS000282 Primary tumor samples from TCGA
[
  • 387 cases
  • , 0 controls
]
Mean = 49.0 years
Sd = 16.0 years
European TCGA
PSS000282
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
PSS007730 2,453 individuals African American or Afro-Caribbean Carribean UKB
PSS000341 Cases were ascertained using ICD-10 C73 (PTC, FTC, cancer/carcinoma, and rare nonmedullary)
[
  • 723 cases
  • , 129,556 controls
]
,
46.41 % Male samples
European deCODE
PSS000342 Histologically confirmed papillary or follicular thyroid carcinoma (PTC) patients (including traditional PTC and follicular variant PTC)
[
  • 1,544 cases
  • , 1,593 controls
]
,
26.08 % Male samples
European NR
PSS000343 Cases were ascertained using ICD-10 C73 (PTC, FTC, cancer/carcinoma, and rare nonmedullary)
[
  • 534 cases
  • , 407,945 controls
]
,
45.97 % Male samples
European UKB
PSS008383 1,197 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS001025 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 191 cases
  • , 390,998 controls
]
European UKB