Publication Information (EuropePMC) | |
Title | Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry. |
PubMed ID | 27931260(Europe PMC) |
doi | 10.1186/s13058-016-0786-1 |
Publication Date | Dec. 8, 2016 |
Journal | Breast Cancer Res |
Author(s) | Wen W, Shu XO, Guo X, Cai Q, Long J, Bolla MK, Michailidou K, Dennis J, Wang Q, Gao YT, Zheng Y, Dunning AM, García-Closas M, Brennan P, Chen ST, Choi JY, Hartman M, Ito H, Lophatananon A, Matsuo K, Miao H, Muir K, Sangrajrang S, Shen CY, Teo SH, Tseng CC, Wu AH, Yip CH, Simard J, Pharoah PD, Hall P, Kang D, Xiang Y, Easton DF, Zheng W. |
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) |
---|---|---|---|---|---|---|
PGS000050 (PRS44) |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Breast cancer | breast carcinoma | 44 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000050/ScoringFiles/PGS000050.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 |
---|---|---|---|---|---|---|---|---|---|
PPM000126 | PGS000050 (PRS44) |
PSS000078| East Asian Ancestry| 23,567 individuals |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.606 | Odds Ratio (OR; per decile of PRS): 1.13 [1.12, 1.14] | NR | Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information). |
PPM000127 | PGS000050 (PRS44) |
PSS000079| East Asian Ancestry| 5,152 individuals |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Reported Trait: Breast cancer | — | C-index: 0.602 | C-index improvement (with PRS): 0.0386 [0.0259, 0.0513] | age at menarche, age at first live birth, waist-to-hip ratio, breast cancer family history, prior benign breast disease | Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information). |
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 |
---|---|---|---|---|---|---|---|---|
PSS000078 | — | — | [ ,
0.0 % Male samples |
— | East Asian | — | 11 cohorts
|
— |
PSS000079 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | SGWAS | SGWAS (Stage 1). Smaller set of the larger test set from this study. |