Trait: female breast carcinoma

Trait Information
Identifier MONDO_0004379
Description A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. [NCIT: C2918]
Trait category
Other trait
Synonyms 7 synonyms
  • breast carcinoma, female
  • carcinoma of female breast
  • carcinoma of the female breast
  • female breast cancer
  • female breast carcinoma
  • mammary carcinoma of female breast
  • mammary carcinoma of the female breast

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018535
(TPMI_174.11_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of female breast female breast carcinoma 2,319
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018535/ScoringFiles/PGS018535.txt.gz
PGS018536
(TPMI_174.11_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of female breast female breast carcinoma 939,800
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018536/ScoringFiles/PGS018536.txt.gz
PGS018537
(TPMI_174.11_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of female breast female breast carcinoma 83,711
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018537/ScoringFiles/PGS018537.txt.gz
PGS018538
(TPMI_174.11_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of female breast female breast carcinoma 983,756
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018538/ScoringFiles/PGS018538.txt.gz
PGS018539
(TPMI_174.11_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of female breast female breast carcinoma 173,509
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018539/ScoringFiles/PGS018539.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
PPM036717 PGS018535
(TPMI_174.11_Lassosum2)
 PSS012428|
East Asian Ancestry|
9,206 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of female breast — AUROC: 0.66655 R²: 0.04537 sex, age, array, PCs 1-10 —
PPM036718 PGS018536
(TPMI_174.11_LDpred2)
 PSS012427|
East Asian Ancestry|
9,206 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of female breast — AUROC: 0.67564 R²: 0.04975 sex, age, array, PCs 1-10 —
PPM036719 PGS018537
(TPMI_174.11_MegaPRS)
 PSS012429|
East Asian Ancestry|
9,206 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of female breast — AUROC: 0.66328 R²: 0.0431 sex, age, array, PCs 1-10 —
PPM036720 PGS018538
(TPMI_174.11_PRS-CS)
 PSS012430|
East Asian Ancestry|
9,206 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of female breast — AUROC: 0.67426 R²: 0.04958 sex, age, array, PCs 1-10 —
PPM036721 PGS018539
(TPMI_174.11_SBayesR)
 PSS012431|
East Asian Ancestry|
9,206 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of female breast — AUROC: 0.66761 R²: 0.04546 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
PSS012427 174, V10.3,C50 —
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012428 174, V10.3,C50 —
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012429 174, V10.3,C50 —
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012430 174, V10.3,C50 —
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012431 174, V10.3,C50 —
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —