Trait: luminal A breast carcinoma

Trait Information
Identifier MONDO_0021116
Description A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. [NCIT: C53554]
Trait category
Synonyms 6 synonyms
  • Luminal A
  • Luminal A breast cancer
  • Luminal A breast carcinoma
  • Luminal A estrogen receptor positive subtype of breast carcinoma
  • Luminal A oestrogen receptor positive subtype of breast carcinoma
  • Luminal A subtype of breast carcinoma
Mapped terms 2 mapped terms
  • NCIT:C53554
  • UMLS:C3642345

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (luminal A-like) luminal A breast carcinoma 330

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000649 PGS000212
European Ancestry|
28,140 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.83 [1.78, 1.88] AUROC: 0.6609

Evaluated Samples

PGS Sample Set ID
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
PSS000360 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2); 
  • 7,325 cases
  • , 20,815 controls
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data