| Predicted Trait | |
| Reported Trait | ER-positive breast cancer |
| Mapped Trait(s) | estrogen-receptor positive breast cancer (EFO_1000649) |
| Score Construction | |
| PGS Name | PRS105_ERposBC |
| Development Method | |
| Name | Genome-wide significant SNPs |
| Parameters | effect estimates from a GWAS of ER-negative BC were used to weight an SNP if the P value from a case... -only heterogeneity test (ER-positive v ER-negative disease) was < .05 and overall BC effect estimates were used as weights otherwiseShow more |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 105 |
| Effect Weight Type | beta |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000612 |
| Citation (link to publication) | Gao C et al. J Clin Oncol (2021) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 96.8% East Asian: 1.7% African: 1.2% Not Reported: 0.2% 304,376 individuals (100%) |
| PGS Evaluation | European: 100% 1 Sample Sets |
Study Identifiers
|
Sample Numbers
|
Sample Ancestry
|
Cohort(s)
|
|---|---|---|---|
Europe PMC: 24943594 | [ ,
0.0 % Male samples | European | BCAC |
Europe PMC: 25855707 | [ ,
0.0 % Male samples | European | BCAC |
GWAS Catalog: GCST000079 Europe PMC: 17903305 | 723 individuals | Not reported | NR |
GWAS Catalog: GCST000162 Europe PMC: 18326623 | 548 individuals | European | NR |
GWAS Catalog: GCST000678 Europe PMC: 20453838 | 8,556 individuals | European | NR |
GWAS Catalog: GCST000846 Europe PMC: 21060860 | 1,703 individuals | European | NR |
GWAS Catalog: GCST001420 Europe PMC: 22383897 | 5,242 individuals | East Asian | NR |
GWAS Catalog: GCST001683 Europe PMC: 22976474 | 32,530 individuals | European | NR |
GWAS Catalog: GCST001683 Europe PMC: 22976474 | 3,748 individuals | African American or Afro-Caribbean | NR |
GWAS Catalog: GCST001930 Europe PMC: 23535733 | 39,387 individuals | European | NR |
GWAS Catalog: GCST002667 Europe PMC: 25342443 | 7,600 individuals | European | NR |
GWAS Catalog: GCST003845 Europe PMC: 27117709 | 19,291 individuals | European | NR |
GWAS Catalog: GCST004950 Europe PMC: 25751625 | 33,864 individuals | European | NR |
GWAS Catalog: GCST007302 Europe PMC: 23544012 | 8,211 individuals | European | NR |
PGS Performance Metric ID (PPM) |
PGS Sample Set ID (PSS) |
Performance Source
|
Trait
|
PGS Effect Sizes (per SD change) |
Classification Metrics
|
Other Metrics
|
Covariates Included in the Model
|
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|
| PPM021113 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among BRAC1 carriers younger than 40 years | OR: 15.04 [6.06, 37.34] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA1 variant carriers vs non-carriers |
| PPM021114 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among BRAC2 carriers younger than 40 years | OR: 21.24 [9.84, 45.84] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA2 variant carriers vs non-carriers |
| PPM021115 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among ATM carriers younger than 40 years | OR: 4.17 [3.06, 5.68] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in ATM variant carriers vs non-carriers |
| PPM021116 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among CHEK2 carriers younger than 40 years | OR: 4.86 [3.71, 6.37] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CHEK2 variant carriers vs non-carriers |
| PPM021117 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among PALB2 carriers younger than 40 years | OR: 6.51 [4.0, 10.6] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in PALB2 variant carriers vs non-carriers |
| PPM021118 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among BARD1 carriers younger than 40 years | OR: 1.94 [1.02, 3.68] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BARD1 variant carriers vs non-carriers |
| PPM021119 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among BRIP1 carriers younger than 40 years | OR: 2.73 [1.65, 4.54] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRIP1 variant carriers vs non-carriers |
| PPM021120 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among CDH1 carriers younger than 40 years | OR: 17.98 [3.8, 85.06] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CDH1 variant carriers vs non-carriers |
| PPM021121 | PSS011529| European Ancestry| 52,925 individuals | PGP000612 | Gao C et al. J Clin Oncol (2021) | Reported Trait: Breast cancer among NF1 carriers younger than 40 years | OR: 2.34 [0.75, 7.31] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in NF1 variant carriers vs non-carriers |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS011529 | — | — | [ ,
0.0 % Male samples | — | European | — | 11 cohorts
| — |