Trait: breast fibrocystic disease

Trait Information
Identifier MONDO_0005219
Description Fibrosis associated with cyst formation in the breast parenchyma. [NCIT: C3039]
Trait category
Other trait
Synonyms 15 synonyms
  • benign breast disease
  • breast fibrocystic change
  • cystic disease of breast
  • cystic disease of the breast
  • diffuse cystic mastopathy
  • fibrocystic breast
  • fibrocystic breast changes
  • fibrocystic breast disease
  • fibrocystic change of breast
  • fibrocystic change of the breast
  • fibrocystic disease
  • fibrocystic disease of breast
  • fibrocystic disease of the breast
  • fibrocystic mastopathy
  • mammary dysplasia

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)
PGS019532
(TPMI_610.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cystic mastopathy breast fibrocystic disease 1
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019532/ScoringFiles/PGS019532.txt.gz
PGS019533
(TPMI_610.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cystic mastopathy breast fibrocystic disease 939,813
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019533/ScoringFiles/PGS019533.txt.gz
PGS019534
(TPMI_610.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cystic mastopathy breast fibrocystic disease 531,434
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019534/ScoringFiles/PGS019534.txt.gz
PGS019535
(TPMI_610.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cystic mastopathy breast fibrocystic disease 983,768
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019535/ScoringFiles/PGS019535.txt.gz
PGS019536
(TPMI_610.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cystic mastopathy breast fibrocystic disease 994,396
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019536/ScoringFiles/PGS019536.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
PPM037714 PGS019532
(TPMI_610.1_Lassosum2)
 PSS013435|
East Asian Ancestry|
8,474 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cystic mastopathy — AUROC: 0.82758 R²: 0.17876 sex, age, array, PCs 1-10 —
PPM037715 PGS019533
(TPMI_610.1_LDpred2)
 PSS013434|
East Asian Ancestry|
8,474 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cystic mastopathy — AUROC: 0.82745 R²: 0.17824 sex, age, array, PCs 1-10 —
PPM037716 PGS019534
(TPMI_610.1_MegaPRS)
 PSS013436|
East Asian Ancestry|
8,474 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cystic mastopathy — AUROC: 0.82694 R²: 0.17807 sex, age, array, PCs 1-10 —
PPM037717 PGS019535
(TPMI_610.1_PRS-CS)
 PSS013437|
East Asian Ancestry|
8,474 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cystic mastopathy — AUROC: 0.82752 R²: 0.17875 sex, age, array, PCs 1-10 —
PPM037718 PGS019536
(TPMI_610.1_SBayesR)
 PSS013438|
East Asian Ancestry|
8,474 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cystic mastopathy — AUROC: 0.82727 R²: 0.17819 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
PSS013437 610.0, 610.1,N60 —
[
  • 302 cases
  • , 8,172 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013438 610.0, 610.1,N60 —
[
  • 302 cases
  • , 8,172 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013434 610.0, 610.1,N60 —
[
  • 302 cases
  • , 8,172 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013435 610.0, 610.1,N60 —
[
  • 302 cases
  • , 8,172 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013436 610.0, 610.1,N60 —
[
  • 302 cases
  • , 8,172 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —