Trait: endocrine gland neoplasm

Trait Information
Identifier MONDO_0002082
Description A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. [NCIT: C3010]
Trait category
Other disease
Synonyms 14 synonyms
  • endocrine gland neoplasm (disease)
  • endocrine gland tumor
  • endocrine gland tumour
  • endocrine neoplasm
  • endocrine system neoplasm
  • endocrine system tumor
  • endocrine system tumour
  • endocrine tumor
  • endocrine tumour
  • malignant endocrine tumor
  • malignant endocrine tumour
  • neoplasm of endocrine gland
  • tumor of endocrine gland
  • tumour of endocrine gland
Child trait(s) 4 child traits

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
Note: This table shows PGS for child terms of "endocrine gland neoplasm" in the EFO hierarchy.
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)
PGS000087
(CC_Thyroid)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Thyroid cancer thyroid gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland 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 gland carcinoma 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001354/ScoringFiles/PGS001354.txt.gz
PGS001794
(1kgeur_gbmi_leaveUKBBout_ThC_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Thyroid cancer thyroid gland carcinoma 911,462
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001794/ScoringFiles/PGS001794.txt.gz
PGS001799
(1kgeur_gbmi_ThC_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Thyroid cancer thyroid gland carcinoma 885,482
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001799/ScoringFiles/PGS001799.txt.gz
PGS001809
(portability-PLR_193)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Thyroid cancer thyroid gland 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 gland carcinoma 311,520
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002018/ScoringFiles/PGS002018.txt.gz
PGS003437
(PRS23_TC)
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
Thyroid cancer thyroid gland carcinoma 23
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003437/ScoringFiles/PGS003437.txt.gz
PGS003746
(PRS11_TC)
PGP000470 |
Xin J et al. EBioMedicine (2023)
Thyroid cancer thyroid gland carcinoma 11
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003746/ScoringFiles/PGS003746.txt.gz
PGS004954
(PRS26_TC)
PGP000676 |
Pozdeyev N et al. J Clin Endocrinol Metab (2024)
Thyroid cancer thyroid gland carcinoma 26
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004954/ScoringFiles/PGS004954.txt.gz
PGS005210
(Thyroid_PRS)
PGP000729 |
Gibson TM et al. Nat Med (2024)
Thyroid cancer thyroid gland carcinoma 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005210/ScoringFiles/PGS005210.txt.gz
PGS005258
(thyroid_cancer_mixed_pt)
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Thyroid carcenoma thyroid gland carcinoma 84
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005258/ScoringFiles/PGS005258.txt.gz
PGS005259
(thyroid_cancer_mixed_prscs)
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Thyroid carcenoma thyroid gland carcinoma 1,085,173
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005259/ScoringFiles/PGS005259.txt.gz
PGS005260
(thyroid_cancer_eur_prscs)
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Thyroid carcenoma thyroid gland carcinoma 1,085,170
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005260/ScoringFiles/PGS005260.txt.gz
PGS005273
(tc_vs_bng_mixed_prscs)
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Thyroid carcenoma vs benign nodular goiter benign,
nodular goiter,
thyroid gland carcinoma
1,085,164
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005273/ScoringFiles/PGS005273.txt.gz
PGS005274
(tc_vs_bng_eur_prscs)
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Thyroid carcenoma vs benign nodular goiter benign,
nodular goiter,
thyroid gland carcinoma
1,084,965
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005274/ScoringFiles/PGS005274.txt.gz
PGS018500
(TPMI_155_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018500/ScoringFiles/PGS018500.txt.gz
PGS018501
(TPMI_155_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 939,828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018501/ScoringFiles/PGS018501.txt.gz
PGS018502
(TPMI_155_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 25,084
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018502/ScoringFiles/PGS018502.txt.gz
PGS018503
(TPMI_155_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018503/ScoringFiles/PGS018503.txt.gz
PGS018504
(TPMI_155_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 977,058
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018504/ScoringFiles/PGS018504.txt.gz
PGS018505
(TPMI_155.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 76
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018505/ScoringFiles/PGS018505.txt.gz
PGS018506
(TPMI_155.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 939,828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018506/ScoringFiles/PGS018506.txt.gz
PGS018507
(TPMI_155.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 24,458
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018507/ScoringFiles/PGS018507.txt.gz
PGS018508
(TPMI_155.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 983,777
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018508/ScoringFiles/PGS018508.txt.gz
PGS018509
(TPMI_155.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 973,600
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018509/ScoringFiles/PGS018509.txt.gz
PGS018580
(TPMI_193_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Thyroid cancer thyroid cancer 966
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018580/ScoringFiles/PGS018580.txt.gz
PGS018581
(TPMI_193_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Thyroid cancer thyroid cancer 939,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018581/ScoringFiles/PGS018581.txt.gz
PGS018582
(TPMI_193_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Thyroid cancer thyroid cancer 43,806
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018582/ScoringFiles/PGS018582.txt.gz
PGS018583
(TPMI_193_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Thyroid cancer thyroid cancer 983,779
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018583/ScoringFiles/PGS018583.txt.gz
PGS018584
(TPMI_193_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Thyroid cancer thyroid cancer 116,829
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018584/ScoringFiles/PGS018584.txt.gz
PGS018635
(TPMI_226_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of thyroid glands benign thyroid gland neoplasm 90
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018635/ScoringFiles/PGS018635.txt.gz
PGS018636
(TPMI_226_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of thyroid glands benign thyroid gland neoplasm 310,396
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018636/ScoringFiles/PGS018636.txt.gz
PGS018637
(TPMI_226_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of thyroid glands benign thyroid gland neoplasm 499,454
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018637/ScoringFiles/PGS018637.txt.gz
PGS018638
(TPMI_226_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of thyroid glands benign thyroid gland neoplasm 983,834
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018638/ScoringFiles/PGS018638.txt.gz
PGS018639
(TPMI_226_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of thyroid glands benign thyroid gland neoplasm 1,003,044
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018639/ScoringFiles/PGS018639.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.
PPM030752 PGS000087
(CC_Thyroid)
PSS012279|
East Asian Ancestry|
4,063 individuals
PGP000821 |
Chen YH et al. J Endocr Soc (2024)
|Ext.
Reported Trait: Thyroid cancer — — Hazard ratio (HR, high vs low tertile): 1.147 [1.049, 1.254] — —
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]
PPM017146 PGS000207
(TC10_Ohio)
PSS010136|
European Ancestry|
264,956 individuals
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
|Ext.
Reported Trait: Thyroid cancer HR: 1.74 [1.56, 1.94] AUROC: 0.62 [0.59, 0.64] — age, sex, and genetic composition, townsend deprivation index at recruitment, qualifications and average total household income before tax —
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
PPM021099 PGS000630
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_MGI_20200608)
PSS011527|
Multi-ancestry (including European)|
359 individuals
PGP000610 |
Wang JR et al. J Clin Endocrinol Metab (2023)
|Ext.
Reported Trait: BRAFV600E tumor driver subtype in individuals with papillary thyroid carcinoma OR: 1.51 [1.09, 2.08] — — — —
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)
R²: 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.
PPM030751 PGS000797
(CC_Thyroid_IV)
PSS012279|
East Asian Ancestry|
4,063 individuals
PGP000821 |
Chen YH et al. J Endocr Soc (2024)
|Ext.
Reported Trait: Thyroid cancer — — Hazard ratio (HR, high vs low tertile): 1.151 [1.053, 1.258] — —
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] R²: 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] R²: 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] R²: 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] R²: 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] R²: 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) —
PPM009298 PGS001794
(1kgeur_gbmi_leaveUKBBout_ThC_pst_eff_a1_b0.5_phiauto)
PSS007717|
European Ancestry|
358,476 individuals
PGP000262 |
Wang Y et al. Cell Genom (2023)
Reported Trait: Thyroid cancer — AUROC: 0.676 Nagelkerke's R2 (covariates regressed out): 0.01366 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009315 PGS001799
(1kgeur_gbmi_ThC_pst_eff_a1_b0.5_phiauto)
PSS007697|
European Ancestry|
7,128 individuals
PGP000262 |
Wang Y et al. Cell Genom (2023)
Reported Trait: Thyroid cancer — AUROC: 0.685 Nagelkerke's R2 (covariates regressed out): 0.01036 sex,age, 20PCs —
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 —
PPM017148 PGS003437
(PRS23_TC)
PSS010136|
European Ancestry|
264,956 individuals
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
Reported Trait: Incident thyroid cancer x total moderate to vigorous physical activity interaction HR: 0.74 [0.57, 0.97] — — age, sex, and genetic composition, townsend deprivation index at recruitment, qualifications and average total household income before tax —
PPM017149 PGS003437
(PRS23_TC)
PSS010136|
European Ancestry|
264,956 individuals
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
Reported Trait: Incident thyroid cancer x smoke intake interaction HR: 0.48 [0.32, 0.72] — — age, sex, and genetic composition, townsend deprivation index at recruitment, qualifications and average total household income before tax —
PPM017145 PGS003437
(PRS23_TC)
PSS010136|
European Ancestry|
264,956 individuals
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
Reported Trait: Thyroid cancer HR: 1.95 [1.68, 2.26] AUROC: 0.64 [0.61, 66.0] — age, sex, and genetic composition, townsend deprivation index at recruitment, qualifications and average total household income before tax —
PPM017147 PGS003437
(PRS23_TC)
PSS010136|
European Ancestry|
264,956 individuals
PGP000439 |
Feng X et al. JAMA Netw Open (2022)
Reported Trait: Incident thyroid cancer x healthy lifestyle interaction HR: 0.52 [0.37, 0.73] — — age, sex, and genetic composition, townsend deprivation index at recruitment, qualifications and average total household income before tax —
PPM018502 PGS003746
(PRS11_TC)
PSS010996|
European Ancestry|
360 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Thyroid cancer OR: 1.63 [1.44, 1.85] — — — —
PPM021769 PGS004954
(PRS26_TC)
PSS011791|
Multi-ancestry (including European)|
73,346 individuals
PGP000676 |
Pozdeyev N et al. J Clin Endocrinol Metab (2024)
Reported Trait: Thyroid cancer — AUROC: 0.7 — Age, sex, genotyping batch, 10 PCs —
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 —
PPM022741 PGS005258
(thyroid_cancer_mixed_pt)
PSS012069|
Multi-ancestry (including European)|
94,651 individuals
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Reported Trait: thyroid carcenoma OR: 1.02
β: 0.016
AUROC: 0.68616 — — —
PPM022742 PGS005259
(thyroid_cancer_mixed_prscs)
PSS012069|
Multi-ancestry (including European)|
94,651 individuals
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Reported Trait: thyroid carcenoma OR: 2.03689
β: 0.71142
AUROC: 0.69525 — — —
PPM022743 PGS005260
(thyroid_cancer_eur_prscs)
PSS012069|
Multi-ancestry (including European)|
94,651 individuals
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Reported Trait: thyroid carcenoma OR: 1.96019
β: 0.67304
AUROC: 0.68452 — — —
PPM022756 PGS005273
(tc_vs_bng_mixed_prscs)
PSS012069|
Multi-ancestry (including European)|
94,651 individuals
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.55052
β: 0.43859
AUROC: 0.61739 — — —
PPM022757 PGS005274
(tc_vs_bng_eur_prscs)
PSS012069|
Multi-ancestry (including European)|
94,651 individuals
PGP000748 |
White SL et al. medRxiv (2025)
|Pre
Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.49346
β: 0.4011
AUROC: 0.61349 — — —
PPM036682 PGS018500
(TPMI_155_Lassosum2)
PSS012408|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.65034 R²: 0.0208 sex, age, array, PCs 1-10 —
PPM036683 PGS018501
(TPMI_155_LDpred2)
PSS012407|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.6513 R²: 0.02088 sex, age, array, PCs 1-10 —
PPM036684 PGS018502
(TPMI_155_MegaPRS)
PSS012409|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.64296 R²: 0.01875 sex, age, array, PCs 1-10 —
PPM036685 PGS018503
(TPMI_155_PRS-CS)
PSS012410|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.65049 R²: 0.02078 sex, age, array, PCs 1-10 —
PPM036686 PGS018504
(TPMI_155_SBayesR)
PSS012411|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.64158 R²: 0.01837 sex, age, array, PCs 1-10 —
PPM036687 PGS018505
(TPMI_155.1_Lassosum2)
PSS012403|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.65226 R²: 0.01923 sex, age, array, PCs 1-10 —
PPM036688 PGS018506
(TPMI_155.1_LDpred2)
PSS012402|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.65258 R²: 0.0191 sex, age, array, PCs 1-10 —
PPM036689 PGS018507
(TPMI_155.1_MegaPRS)
PSS012404|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.64163 R²: 0.01662 sex, age, array, PCs 1-10 —
PPM036690 PGS018508
(TPMI_155.1_PRS-CS)
PSS012405|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.6475 R²: 0.01834 sex, age, array, PCs 1-10 —
PPM036691 PGS018509
(TPMI_155.1_SBayesR)
PSS012406|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.64158 R²: 0.01663 sex, age, array, PCs 1-10 —
PPM036762 PGS018580
(TPMI_193_Lassosum2)
PSS012483|
East Asian Ancestry|
19,578 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Thyroid cancer — AUROC: 0.74837 R²: 0.04678 sex, age, array, PCs 1-10 —
PPM036763 PGS018581
(TPMI_193_LDpred2)
PSS012482|
East Asian Ancestry|
19,578 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Thyroid cancer — AUROC: 0.75147 R²: 0.0477 sex, age, array, PCs 1-10 —
PPM036764 PGS018582
(TPMI_193_MegaPRS)
PSS012484|
East Asian Ancestry|
19,578 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Thyroid cancer — AUROC: 0.73612 R²: 0.04103 sex, age, array, PCs 1-10 —
PPM036765 PGS018583
(TPMI_193_PRS-CS)
PSS012485|
East Asian Ancestry|
19,578 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Thyroid cancer — AUROC: 0.75032 R²: 0.04683 sex, age, array, PCs 1-10 —
PPM036766 PGS018584
(TPMI_193_SBayesR)
PSS012486|
East Asian Ancestry|
19,578 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Thyroid cancer — AUROC: 0.75015 R²: 0.04632 sex, age, array, PCs 1-10 —
PPM036817 PGS018635
(TPMI_226_Lassosum2)
PSS012538|
East Asian Ancestry|
19,294 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of thyroid glands — AUROC: 0.71775 R²: 0.01182 sex, age, array, PCs 1-10 —
PPM036818 PGS018636
(TPMI_226_LDpred2)
PSS012537|
East Asian Ancestry|
19,294 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of thyroid glands — AUROC: 0.72037 R²: 0.0121 sex, age, array, PCs 1-10 —
PPM036819 PGS018637
(TPMI_226_MegaPRS)
PSS012539|
East Asian Ancestry|
19,294 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of thyroid glands — AUROC: 0.71459 R²: 0.01105 sex, age, array, PCs 1-10 —
PPM036820 PGS018638
(TPMI_226_PRS-CS)
PSS012540|
East Asian Ancestry|
19,294 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of thyroid glands — AUROC: 0.71768 R²: 0.01154 sex, age, array, PCs 1-10 —
PPM036821 PGS018639
(TPMI_226_SBayesR)
PSS012541|
East Asian Ancestry|
19,294 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of thyroid glands — AUROC: 0.7189 R²: 0.01135 sex, age, array, PCs 1-10 —

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
PSS012537 226,D34 —
[
  • 155 cases
  • , 19,139 controls
]
,
46.52 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012541 226,D34 —
[
  • 155 cases
  • , 19,139 controls
]
,
46.52 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS000558 PheCode:193; ICD9CM:193, V10.87; ICD10CM:C73 —
[
  • 389 cases
  • , 3,881 controls
]
— European — MGI —
PSS012538 226,D34 —
[
  • 155 cases
  • , 19,139 controls
]
,
46.52 % Male samples
— East Asian
(Han Chinese)
— TPMI —
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 —
PSS012411 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
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 —
PSS012539 226,D34 —
[
  • 155 cases
  • , 19,139 controls
]
,
46.52 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS008383 — — 1,197 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS010996 — — 360 individuals Mean = 48.04 years European — TCGA —
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 —
PSS012279 — —
[
  • 839 cases
  • , 3,224 controls
]
— East Asian
(Han Chinese)
— TPMI —
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)
PSS011791 — — 73,346 individuals — African American or Afro-Caribbean, Asian unspecified, European, Native American, Not reported — CCPM —
PSS007697 — —
[
  • 72 cases
  • , 7,055 controls
]
— European — CanPath —
PSS008833 — — 3,896 individuals — African unspecified Nigeria (West Africa) UKB —
PSS012482 193, V10.87,C73, Z85.850 —
[
  • 439 cases
  • , 19,139 controls
]
,
46.22 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS010136 — —
[
  • 423 cases
  • , 264,533 controls
]
— European — UKB —
PSS012483 193, V10.87,C73, Z85.850 —
[
  • 439 cases
  • , 19,139 controls
]
,
46.22 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS007948 — — 1,801 individuals — East Asian China (East Asia) UKB —
PSS012024 — — 11,220 individuals,
49.6 % Male samples
— European — CCSS, SJLIFE —
PSS012484 193, V10.87,C73, Z85.850 —
[
  • 439 cases
  • , 19,139 controls
]
,
46.22 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012485 193, V10.87,C73, Z85.850 —
[
  • 439 cases
  • , 19,139 controls
]
,
46.22 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012486 193, V10.87,C73, Z85.850 —
[
  • 439 cases
  • , 19,139 controls
]
,
46.22 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS007717 — —
[
  • 365 cases
  • , 358,110 controls
]
— European — 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 —
PSS011527 — — 245 individuals — European — TCGA —
PSS011527 — — 30 individuals — Asian unspecified — TCGA —
PSS011527 — — 13 individuals — African American or Afro-Caribbean — TCGA —
PSS011527 — — 71 individuals — Not reported — TCGA —
PSS012404 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012405 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012408 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012406 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
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 —
PSS012069 Cases - ICD-9-CM codes: 193, V10.87, ICD-10-CM billing codes: C73, Z85.850, ICD-9 codes: 193, V10.87, ICD-10 codes: C73, SNOMED: 92767001 Carcinoma in situ of thyroid gland, 363478007 Malignant tumor of thyroid gland, 255028004 Follicular thyroid carcinoma, 423158009 Hurthle cell carcinoma of thyroid, 772992009 Primary differentiated carcinoma of thyroid gland. Controls - ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter ICD-10-CM billing codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter, ICD-10 codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, SNOMED: 419153005 Nodular goiter, 190236006 Non-toxic nodular goiter, 66392007 Substernal goiter, 60968001 Adenomatous goiter — 94,651 individuals — African American or Afro-Caribbean, Hispanic or Latin American, European — CCPM —
PSS012403 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012402 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012407 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS009279 — — 19,923 individuals — European UK (+ Ireland) UKB —
PSS012409 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012410 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
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 —
PSS012540 226,D34 —
[
  • 155 cases
  • , 19,139 controls
]
,
46.52 % Male samples
— East Asian
(Han Chinese)
— TPMI —