Publication Information (EuropePMC) | |
Title | Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction. |
PubMed ID | 33247094(Europe PMC) |
doi | 10.1038/s41467-020-19600-4 |
Publication Date | Nov. 27, 2020 |
Journal | Nat Commun |
Author(s) | Kachuri L, Graff RE, Smith-Byrne K, Meyers TJ, Rashkin SR, Ziv E, Witte JS, Johansson M. |
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) |
---|---|---|---|---|---|---|
PGS000789 (CC_Lung_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Lung cancer | lung carcinoma | 109 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000789/ScoringFiles/PGS000789.txt.gz |
PGS000784 (CC_Cervix_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Cervical cancer | cervical carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000784/ScoringFiles/PGS000784.txt.gz |
PGS000786 (CC_Endo_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Endometrial cancer | endometrial carcinoma | 9 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000786/ScoringFiles/PGS000786.txt.gz |
PGS000787 (CC_Kidney_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Kidney cancer | renal cell carcinoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000787/ScoringFiles/PGS000787.txt.gz |
PGS000791 (CC_NHL_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Non-Hodgkin's lymphoma | non-Hodgkins lymphoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000791/ScoringFiles/PGS000791.txt.gz |
PGS000793 (CC_Ovary_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Ovarian cancer | ovarian carcinoma | 36 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000793/ScoringFiles/PGS000793.txt.gz |
PGS000795 (CC_Prostate_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Prostate cancer | prostate carcinoma | 161 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000795/ScoringFiles/PGS000795.txt.gz |
PGS000796 (CC_Testis_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Testicular cancer | testicular carcinoma, Testicular Germ Cell Tumor |
52 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000796/ScoringFiles/PGS000796.txt.gz |
PGS000783 (CC_Breast_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 162 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000783/ScoringFiles/PGS000783.txt.gz |
PGS000790 (CC_Melanoma_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Melanoma | melanoma | 24 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000790/ScoringFiles/PGS000790.txt.gz |
PGS000794 (CC_Pancreas_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Pancreatic cancer | pancreatic carcinoma | 22 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000794/ScoringFiles/PGS000794.txt.gz |
PGS000792 (CC_Oral_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Oral cavity and pharyngeal cancers | oral cavity cancer, pharynx cancer |
14 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000792/ScoringFiles/PGS000792.txt.gz |
PGS000788 (CC_LL_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Lymphocytic leukemia | lymphoid leukemia | 75 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000788/ScoringFiles/PGS000788.txt.gz |
PGS000782 (CC_Bladder_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Bladder cancer | urinary bladder carcinoma | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000782/ScoringFiles/PGS000782.txt.gz |
PGS000785 (CC_Colorectal_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Colorectal cancer | colorectal cancer | 103 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000785/ScoringFiles/PGS000785.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 |
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) |
---|---|---|---|---|---|---|
PGS000071 (CC_Bladder) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Bladder cancer | urinary bladder carcinoma | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000071/ScoringFiles/PGS000071.txt.gz |
PGS000072 (CC_Breast) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Breast cancer | breast carcinoma | 187 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000072/ScoringFiles/PGS000072.txt.gz |
PGS000073 (CC_Cervix) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Cervical cancer | cervical carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000073/ScoringFiles/PGS000073.txt.gz |
PGS000074 (CC_Colorectal) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Colorectal cancer | colorectal cancer | 103 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000074/ScoringFiles/PGS000074.txt.gz |
PGS000075 (CC_Endo) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Endometrial cancer | endometrial carcinoma | 9 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000075/ScoringFiles/PGS000075.txt.gz |
PGS000076 (CC_Kidney) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Kidney cancer | renal cell carcinoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000076/ScoringFiles/PGS000076.txt.gz |
PGS000077 (CC_LL) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Lymphocytic leukemia | lymphoid leukemia | 75 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000077/ScoringFiles/PGS000077.txt.gz |
PGS000078 (CC_Lung) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Lung cancer | lung carcinoma | 109 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000078/ScoringFiles/PGS000078.txt.gz |
PGS000079 (CC_Melanoma) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Melanoma | melanoma | 24 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000079/ScoringFiles/PGS000079.txt.gz |
PGS000080 (CC_NHL) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Non-Hodgkin's lymphoma | non-Hodgkins lymphoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000080/ScoringFiles/PGS000080.txt.gz |
PGS000081 (CC_Oral) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Oral cavity and pharyngeal cancers | oral cavity cancer, pharynx cancer |
14 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000081/ScoringFiles/PGS000081.txt.gz |
PGS000082 (CC_Ovary) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Ovarian cancer | ovarian carcinoma | 36 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000082/ScoringFiles/PGS000082.txt.gz |
PGS000083 (CC_Pancreas) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Pancreatic cancer | pancreatic carcinoma | 22 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000083/ScoringFiles/PGS000083.txt.gz |
PGS000084 (CC_Prostate) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Prostate cancer | prostate carcinoma | 161 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000084/ScoringFiles/PGS000084.txt.gz |
PGS000086 (CC_Testis) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Testicular cancer | testicular carcinoma, Testicular Germ Cell Tumor |
52 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000086/ScoringFiles/PGS000086.txt.gz |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM002039 | PGS000073 (CC_Cervix) |
PSS001012| European Ancestry| 211,795 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident cervical cancer | HR: 1.22 [1.09, 1.37] | AUROC: 0.745 C-index: 0.75 (0.017) |
— | Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002040 | PGS000074 (CC_Colorectal) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident colorectal cancer | HR: 1.32 [1.27, 1.37] | AUROC: 0.704 C-index: 0.704 (0.006) |
— | Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002041 | PGS000075 (CC_Endo) |
PSS001014| European Ancestry| 212,156 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident endometrial cancer | HR: 1.19 [1.1, 1.29] | AUROC: 0.755 C-index: 0.749 (0.011) |
— | Age at assessment, family history of cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), age at menarche, body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002042 | PGS000076 (CC_Kidney) |
PSS001015| European Ancestry| 391,610 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident kidney cancer | HR: 1.16 [1.08, 1.26] | AUROC: 0.722 C-index: 0.724 (0.011) |
— | Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002043 | PGS000077 (CC_LL) |
PSS001016| European Ancestry| 391,338 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident Lymphocytic Leukemia | HR: 1.45 [1.31, 1.61] | AUROC: 0.719 C-index: 0.735 (0.016) |
— | Age at assessment, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002044 | PGS000078 (CC_Lung) |
PSS001017| European Ancestry| 392,539 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident lung cancer | HR: 1.16 [1.11, 1.22] | AUROC: 0.846 C-index: 0.849 (0.006) |
— | Age at assessment, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 in 2010, cigarettes per day, years of smoking, smoking status (never vs. former vs. current), smoking status*cigarettes per day, smoking stutus*years of smoking | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002045 | PGS000079 (CC_Melanoma) |
PSS001018| European Ancestry| 392,803 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident melanoma | HR: 1.43 [1.36, 1.49] | AUROC: 0.652 C-index: 0.663 (0.008) |
— | Age at assessment, sex, genotyping array, PCs(1-15), frequency of UV protection use (always vs. most times vs. never out in the sun vs. never), time outdoors in summer (hours per day), ease of tanning (very easily, vs. moderate vs mild vs. mostly burn) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002046 | PGS000080 (CC_NHL) |
PSS001019| European Ancestry| 391,968 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident non-hodgkin's lymphoma | HR: 1.16 [1.09, 1.24] | AUROC: 0.677 C-index: 0.676 (0.01) |
— | Age at assessment, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002047 | PGS000081 (CC_Oral) |
PSS001020| European Ancestry| 391,479 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident oral cavity and pharyngeal cancer | HR: 1.11 [1.01, 1.21] | AUROC: 0.702 C-index: 0.686 (0.015) |
— | Age at assessment, sex, genotyping array, PCs(1-15), weekly alcohol intake, cigarettes per day, years of smoking, smoing status (never vs. former vs. current) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002048 | PGS000082 (CC_Ovary) |
PSS001021| European Ancestry| 211,958 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident ovarian cancer | HR: 1.13 [1.04, 1.24] | AUROC: 0.656 C-index: 0.655 (0.015) |
— | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), BMI*menopausal status | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002049 | PGS000083 (CC_Pancreas) |
PSS001022| European Ancestry| 391,491 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident pancreatic cancer | HR: 1.49 [1.36, 1.62] | AUROC: 0.745 C-index: 0.742 (0.012) |
— | Age at assessment, sex, genotyping array, PCs(1-15), family history of cancer (prostate, breast, lung, bowel), body mass index, cigarette pack-years, smoking status (never vs. former vs. current) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002050 | PGS000084 (CC_Prostate) |
PSS001023| European Ancestry| 184,225 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident prostate cancer | HR: 1.39 [1.35, 1.43] | AUROC: 0.74 C-index: 0.738 (0.004) |
— | Age at assessment, family history of prostate cancer, genotyping array, PCs(1-15), family history of prostate cancer | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002051 | PGS000086 (CC_Testis) |
PSS001024| European Ancestry| 179,537 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident testicular cancer | HR: 2.18 [1.66, 2.87] | AUROC: 0.783 C-index: 0.749 (0.034) |
— | Age at assessment, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
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. |
PPM002053 | PGS000782 (CC_Bladder_IV) |
PSS001010| European Ancestry| 391,888 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident blader cancer | HR: 1.3 [1.22, 1.39] | AUROC: 0.804 C-index: 0.814 (0.008) |
R²: 0.628 | Age at assessment, sex, genotyping array, PCs(1-15), cigarette pack-years, smoking status(never vs. former vs. current), body mass index | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002054 | PGS000783 (CC_Breast_IV) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident breast cancer | HR: 1.52 [1.47, 1.56] | AUROC: 0.637 C-index: 0.635 (0.004) |
R²: 0.146 | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, (Body mass index)*(menopausal status) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002055 | PGS000784 (CC_Cervix_IV) |
PSS001012| European Ancestry| 211,795 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident cervical cancer | HR: 1.21 [1.07, 1.35] | AUROC: 0.745 C-index: 0.749 (0.017) |
R²: 0.437 | Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002056 | PGS000785 (CC_Colorectal_IV) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident colorectal cancer | HR: 1.48 [1.43, 1.54] | AUROC: 0.716 C-index: 0.716 (0.006) |
R²: 0.345 | Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002037 | PGS000071 (CC_Bladder) |
PSS001010| European Ancestry| 391,888 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident blader cancer | HR: 1.28 [1.2, 1.37] | AUROC: 0.803 C-index: 0.813 (0.008) |
— | Age at assessment, sex, genotyping array, PCs(1-15), cigarette pack-years, smoking status(never vs. former vs. current), body mass index | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002038 | PGS000072 (CC_Breast) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident breast cancer | HR: 1.52 [1.47, 1.56] | AUROC: 0.637 C-index: 632.0 (0.005) |
— | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, body mass index*menopausal status | Only 162 of the original 187 SNPs used based on those that reached p<5e-8 in the BCAC meta-analysis. C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002057 | PGS000786 (CC_Endo_IV) |
PSS001014| European Ancestry| 212,156 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident endometrial cancer | HR: 1.18 [1.09, 1.27] | AUROC: 0.754 C-index: 0.749 (0.011) |
R²: 0.486 | Age at assessment, family history of cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), age at menarche, body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002058 | PGS000787 (CC_Kidney_IV) |
PSS001015| European Ancestry| 391,610 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident kidney cancer | HR: 1.15 [1.07, 1.24] | AUROC: 0.722 C-index: 0.723 (0.011) |
R²: 0.366 | Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002059 | PGS000788 (CC_LL_IV) |
PSS001016| European Ancestry| 391,338 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident Lymphocytic Leukemia | HR: 1.7 [1.53, 1.88] | AUROC: 0.738 C-index: 0.756 (0.015) |
R²: 0.415 | Age at assessment, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002060 | PGS000789 (CC_Lung_IV) |
PSS001017| European Ancestry| 392,539 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident lung cancer | HR: 1.17 [1.12, 1.23] | AUROC: 0.846 C-index: 0.849 (0.006) |
R²: 0.799 | Age at assessment, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 in 2010, cigarettes per day, years of smoking, smoking status (never vs. former vs. current), smoking status*cigarettes per day, smoking stutus*years of smoking | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002061 | PGS000790 (CC_Melanoma_IV) |
PSS001018| European Ancestry| 392,803 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident melanoma | HR: 1.44 [1.37, 1.5] | AUROC: 0.654 C-index: 0.664 (0.008) |
R²: 0.18 | Age at assessment, sex, genotyping array, PCs(1-15), frequency of UV protection use (always vs. most times vs. never out in the sun vs. never), time outdoors in summer (hours per day), ease of tanning (very easily, vs. moderate vs mild vs. mostly burn) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002062 | PGS000791 (CC_NHL_IV) |
PSS001019| European Ancestry| 391,968 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident non-hodgkin's lymphoma | HR: 1.15 [1.08, 1.22] | AUROC: 0.677 C-index: 0.674 (0.01) |
R²: 0.227 | Age at assessment, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002063 | PGS000792 (CC_Oral_IV) |
PSS001020| European Ancestry| 391,479 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident oral cavity and pharyngeal cancer | HR: 1.12 [1.02, 1.23] | AUROC: 0.702 C-index: 0.687 (0.015) |
R²: 0.356 | Age at assessment, sex, genotyping array, PCs(1-15), weekly alcohol intake, cigarettes per day, years of smoking, smoing status (never vs. former vs. current) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002064 | PGS000793 (CC_Ovary_IV) |
PSS001021| European Ancestry| 211,958 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident ovarian cancer | HR: 1.2 [1.1, 1.32] | AUROC: 0.66 C-index: 0.654 (0.015) |
R²: 0.193 | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), BMI*menopausal status | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002065 | PGS000794 (CC_Pancreas_IV) |
PSS001022| European Ancestry| 391,491 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident pancreatic cancer | HR: 1.49 [1.37, 1.63] | AUROC: 0.745 C-index: 0.743 (0.012) |
R²: 0.439 | Age at assessment, sex, genotyping array, PCs(1-15), family history of cancer (prostate, breast, lung, bowel), body mass index, cigarette pack-years, smoking status (never vs. former vs. current) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002066 | PGS000795 (CC_Prostate_IV) |
PSS001023| European Ancestry| 184,225 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident prostate cancer | HR: 1.77 [1.72, 1.82] | AUROC: 0.769 C-index: 0.768 (0.004) |
R²: 0.51 | Age at assessment, family history of prostate cancer, genotyping array, PCs(1-15), family history of prostate cancer | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002067 | PGS000796 (CC_Testis_IV) |
PSS001024| European Ancestry| 179,537 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident testicular cancer | HR: 2.26 [1.71, 2.99] | AUROC: 0.787 C-index: 0.766 (0.033) |
R²: 0.605 | Age at assessment, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
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. |
PPM002069 | PGS000795 (CC_Prostate_IV) |
PSS001023| European Ancestry| 184,225 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident prostate cancer | — | AUROC: 0.766 C-index: 0.763 (0.004) |
R²: 0.496 | Age, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002070 | PGS000783 (CC_Breast_IV) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident breast cancer | — | AUROC: 0.626 C-index: 0.62 (0.005) |
R²: 0.122 | Age, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002071 | PGS000785 (CC_Colorectal_IV) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident colorectal cancer | — | AUROC: 0.708 C-index: 0.708 (0.006) |
R²: 0.319 | Age, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002072 | PGS000789 (CC_Lung_IV) |
PSS001017| European Ancestry| 392,539 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident lung cancer | — | AUROC: 0.71 C-index: 0.711 (0.007) |
R²: 0.322 | Age, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002073 | PGS000789 (CC_Lung_IV) |
PSS001017| European Ancestry| 392,539 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident lung cancer in never smokers | — | AUROC: 0.723 C-index: 0.723 (0.02) |
R²: 0.354 | Age, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 level in 2010 | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002074 | PGS000789 (CC_Lung_IV) |
PSS001017| European Ancestry| 392,539 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident lung cancer in smokers | — | AUROC: 0.808 C-index: 0.809 (0.007) |
R²: 0.657 | Age, sex, genotyping array, PCs(1-15), family history of lung cancer, PM2.5 level in 2010, cigarettes per day, years of smoking, smoking status (former vs. current), years since quitting, (smoking status)*(cigarettes per day), (smoking status*years of smoking) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
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 |
---|---|---|---|---|---|---|---|---|
PSS001010 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001011 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
PSS001012 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
PSS001013 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001014 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
PSS001015 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001016 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001017 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. 207 of the cases were in non-smokers and 1334 were in smokers. | — | [
|
— | European | — | UKB | — |
PSS001018 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001019 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001020 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001021 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
PSS001022 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS001023 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
100.0 % Male samples |
— | European | — | UKB | — |
PSS001024 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
100.0 % Male samples |
— | European | — | UKB | — |
PSS001025 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |