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
Cancer
Synonyms 5 synonyms
  • Luminal A estrogen receptor positive subtype of breast carcinoma
  • Luminal A breast carcinoma
  • Luminal A subtype of breast carcinoma
  • Luminal A breast cancer
  • Luminal A
Mapped term(s) 2 mapped terms
  • NCIT:C53554
  • UMLS:C3642345

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000212 PRS330_LumA PGP000088 Zhang H et al. Nat Genet (2020) Breast cancer intrinsic-like subtype (luminal A-like) luminal A breast carcinoma 330 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000212/ScoringFiles/PGS000212.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000649 PGS000212 (PRS330_LumA) PSS000360 PGP000088
Zhang H et al. (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
(PSS 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
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data