luminal A breast carcinoma

Summary

luminal A breast carcinoma (MONDO:0021116) is a cancer with 28 GWAS associations across 5 studies and 4 clinical trials. Top therapeutic interventions include goserelin. A subtype of breast tumor luminal A or B — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 28
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	luminal A breast carcinoma
Mondo ID	MONDO:0021116
NCIT	C53554
UMLS	C3642345
MedGen	770985
Is cancer (heuristic)	yes

Also known as: 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

Data availability: 28 GWAS associations (5 studies).

Disease family

Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › breast carcinoma › breast carcinoma by gene expression profile › breast tumor luminal A or B › luminal A breast carcinoma

Related subtypes (1): luminal B breast carcinoma

Genetics & variants

GWAS landscape

28 GWAS associations across 5 studies. Top hits map to 20 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3125719	2e-30	MTUS2	G	0.58
rs10828247	2e-13	MLLT10	A	0.03
rs76893106	5e-11	LDAH	G	1.37
rs7580240	6e-11	TRMT61B - WDR43	C	0.03
rs77825513	1e-09	NR2F6	A	0.02
rs4387713	1e-09	GTPBP3 - PLVAP	T	0.02
rs10890841	2e-09	C11orf65	T	0.02
rs3745191	4e-09	ANO8	C	0.02
rs2270418	5e-09	TNFSF10	T	0.02
rs6982226	6e-09	LINC00536	G	0.02
rs12094388	8e-09	LRRN2	A	0.02
rs36013457	1e-08	RPS24P17, SLC12A3	A	2.39
rs2026659	1e-08	CCDC171	A	0.69
rs6663303	1e-08	LGR6	C	0.03
rs4866900	1e-08	FGF10-AS1 - MRPS30-DT	G	0.02
rs8051542	2e-08	TOX3	C	1.43
rs6547894	2e-08	WDR43	G	0.02
rs3130014	2e-08	MYL12BP3 - LYPLA2P1	A	0.02
rs74829122	4e-08	SLC6A18	G	0.02
rs11212662	5e-08	POGLUT3	G	0.02
rs60506708	5e-08	ANO8	C	0.02
rs12435035	1e-07	ZFYVE26	T	0.02
rs12023446	2e-07	LGR6	G	0.02
rs12403443	4e-07	KIF1B	A	0.02
rs206435	4e-07	VAPA - LINC01254	C	0.02
rs10516070	4e-07	DOCK2 - FOXI1	A	0.02
rs1264478	5e-07	RN7SL563P - GRHL2-DT	A	0.02
rs71488291	5e-07	CUL5	A	0.02

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90454345	Zhang H	2020	57,400	91,477	Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
GCST90446470	Sun X	2024	16,499	0	Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants that Confer Risk for Breast Cancer.
GCST90446468	Sun X	2024	12,414	0	Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants that Confer Risk for Breast Cancer.
GCST90446469	Sun X	2024	5,859	0	Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants that Confer Risk for Breast Cancer.
GCST90319678	Hsu YC	2023	1,172	4,688	The largest genome-wide association study for breast cancer in Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	2
Tier 4: intronic/intergenic	26

MAF distribution

Bucket	Variants
common (>=0.05)	25
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	20
intergenic_variant	4
TF_binding_site_variant	1
regulatory_region_variant	1
synonymous_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3125719	13	29416829	T>A,G	0.431	intron_variant	MTUS2	2e-30	Tier 4: intronic/intergenic
rs10828247	10	21533927	A>C,G	0.05	TF_binding_site_variant	MLLT10	2e-13	Tier 3: regulatory
rs76893106	2	20738758	G>A	0.016	intron_variant	LDAH	5e-11	Tier 4: intronic/intergenic
rs7580240	2	28891506	C>T	0.05	intergenic_variant	TRMT61B - WDR43	6e-11	Tier 4: intronic/intergenic
rs77825513	19	17236900	C>A	0.05	intron_variant	NR2F6	1e-09	Tier 4: intronic/intergenic
rs4387713	19	17349088	T>A,C,G	0.05	regulatory_region_variant	GTPBP3 - PLVAP	1e-09	Tier 3: regulatory
rs10890841	11	108447224	C>T	0.05	intron_variant	C11orf65	2e-09	Tier 4: intronic/intergenic
rs3745191	19	17328225	C>T	0.05	synonymous_variant	ANO8	4e-09	Tier 4: intronic/intergenic
rs2270418	3	172523209	T>C,G	0.05	intron_variant	TNFSF10	5e-09	Tier 4: intronic/intergenic
rs6982226	8	116002917	G>C,T	0.05	intron_variant	LINC00536	6e-09	Tier 4: intronic/intergenic
rs12094388	1	204623046	A>C,G,T	0.05	intron_variant	LRRN2	8e-09	Tier 4: intronic/intergenic
rs36013457	16	56906740	A>C,T	0.016	non_coding_transcript_exon_variant	RPS24P17, SLC12A3	1e-08	Tier 4: intronic/intergenic
rs2026659	9	15917291	G>A,T	0.017	intron_variant	CCDC171	1e-08	Tier 4: intronic/intergenic
rs6663303	1	202208798	C>T	0.05	intron_variant	LGR6	1e-08	Tier 4: intronic/intergenic
rs4866900	5	44444998	G>A,C	0.05	intergenic_variant	FGF10-AS1 - MRPS30-DT	1e-08	Tier 4: intronic/intergenic
rs8051542	16	52500255	T>C,G	0.451	intron_variant	TOX3	2e-08	Tier 4: intronic/intergenic
rs6547894	2	28920924	A>G	0.05	intron_variant	WDR43	2e-08	Tier 4: intronic/intergenic
rs3130014	6	33344531	A>C,G,T	0.05	intergenic_variant	MYL12BP3 - LYPLA2P1	2e-08	Tier 4: intronic/intergenic
rs74829122	5	1241450	A>G	0.05	intron_variant	SLC6A18	4e-08	Tier 4: intronic/intergenic
rs11212662	11	108475469	G>A,C,T	0.05	intron_variant	POGLUT3	5e-08	Tier 4: intronic/intergenic
rs60506708	19	17325682	C>A	0.05	intron_variant	ANO8	5e-08	Tier 4: intronic/intergenic
rs12435035	14	67752138	T>A,C,G	0.05	intron_variant	ZFYVE26	1e-07	Tier 4: intronic/intergenic
rs12023446	1	202208243	G>A,C,T	0.05	intron_variant	LGR6	2e-07	Tier 4: intronic/intergenic
rs12403443	1	10363930	A>G	0.05	intron_variant	KIF1B	4e-07	Tier 4: intronic/intergenic
rs206435	18	10354652	A>C,T	0.05	intron_variant	VAPA - LINC01254	4e-07	Tier 4: intronic/intergenic
rs10516070	5	170085856	A>C,T	0.05	intergenic_variant	DOCK2 - FOXI1	4e-07	Tier 4: intronic/intergenic
rs1264478	8	101412690	G>A	0.05	intron_variant	RN7SL563P - GRHL2-DT	5e-07	Tier 4: intronic/intergenic
rs71488291	11	108094663	A>G	0.05	intron_variant	CUL5	5e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05163106	PHASE2	COMPLETED	Neoadjuvant Treatment of Locally-advanced Breast Cancer Patients With Ribociclib and Letrozole
NCT05982496	Not specified	NOT_YET_RECRUITING	18F FES-PET/MRI for Tailoring Treatment of Luminal a and Lobular Breast Cancer
NCT03715959	Not specified	COMPLETED	Nipple Aspirate Fluid in Detecting Breast Cancer
NCT04322331	Not specified	UNKNOWN	Tumor Immune Mechanism of Axillary Lymph Node Metastasis in Early Luminal Type A Breast Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GOSERELIN	4	1