Breast benign neoplasm

Summary

Breast benign neoplasm (MONDO:0000620) is a cancer (an umbrella term covering 15 Mondo subtypes) with 12 GWAS associations across 20 studies and 7 clinical trials. Top therapeutic interventions include doconexent. A subtype of thoracic benign neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 15 Mondo subtypes
• GWAS associations: 12
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	breast benign neoplasm
Mondo ID	MONDO:0000620
DOID	DOID:0060082
ICD-10-CM	D24
ICD-11	2120366482
NCIT	C4505
SNOMED CT	269485000
UMLS	C0346156
MedGen	91085
Anatomy (UBERON)	UBERON:0000310
Is cancer (heuristic)	yes

Also known as: benign breast neoplasm · benign breast tumor · benign breast tumour · benign neoplasm of breast · benign neoplasm of the breast · benign tumor of breast · benign tumor of the breast · benign tumour of breast · benign tumour of the breast · breast benign neoplasm

Data availability: 12 GWAS associations (20 studies).

Disease family

This is a subtype of thoracic benign neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › thoracic benign neoplasm › breast benign neoplasm

Related subtypes (7): lung benign neoplasm, benign neoplasm of heart, benign neoplasm of sternum, benign neoplasm of pericardium, benign neoplasm of mediastinum, benign neoplasm of chest wall, benign axillary neoplasm

Subtypes (15): breast lipoma, breast cyst, benign eccrine breast spiradenoma, breast fibroadenoma, breast leiomyoma, breast adenoma, breast myofibroblastoma, benign breast adenomyoepithelioma, breast hemangioma, multiple fibroadenoma of the breast, benign breast phyllodes tumor, intraductal breast papilloma, benign neoplasm of male breast, diabetic mastopathy, lymphocytic mastitis

Genetics & variants

GWAS landscape

12 GWAS associations across 20 studies. Top hits map to 7 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs374315911	2e-14	LINC01716	C	3.4
rs1461746208	1e-13	OSBPL8	T	6.65
rs188256118	3e-13	RPL6P5 - METAP2P1	C	5.5
rs549822836	2e-12	UCHL1 - Y_RNA	G	5.39
rs149282327	3e-12	LRRC7	G	2.8
rs141078432	6e-12	LINC02021	G	2.66
rs189378943	8e-12	MORF4L2P1 - GSX2	C	4.76
rs561678179	1e-11	MRPL48	T	4.5
rs551004215	2e-11		G	4.81
rs551001465	2e-11	SIPA1L1	G	6.45
rs150766992	1e-08	MRTFB	?
rs117169751	6e-07	VPS37C - PGA3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90652176	Liu TY	2025	3,235	112,423	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90079684	Backman JD	2021	1,779	208,433	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083670	Backman JD	2021	1,779	208,433	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077989	Backman JD	2021	1,671	330,083	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081975	Backman JD	2021	1,671	330,083	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436468	Zhou W	2018	1,553	401,746	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90077990	Backman JD	2021	1,390	176,504	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081976	Backman JD	2021	1,390	176,504	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651484	Liu TY	2025	960	112,423	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90478656	Verma A	2024	750	449,193	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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	0
Tier 4: intronic/intergenic	12

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	10
unknown	2

Functional consequences

Consequence	Count
intron_variant	10
intergenic_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs374315911	20	56593075	C>G,T	0.001	intron_variant	LINC01716	2e-14	Tier 4: intronic/intergenic
rs1461746208	12	76372081	T>C	0	intron_variant	OSBPL8	1e-13	Tier 4: intronic/intergenic
rs188256118	2	145686694	C>T	0	intron_variant	RPL6P5 - METAP2P1	3e-13	Tier 4: intronic/intergenic
rs549822836	4	41287475	G>A,C,T	0	intergenic_variant	UCHL1 - Y_RNA	2e-12	Tier 4: intronic/intergenic
rs149282327	1	69801546	G>A	0.001	intron_variant	LRRC7	3e-12	Tier 4: intronic/intergenic
rs141078432	3	130122778	G>A	0.001	intron_variant	LINC02021	6e-12	Tier 4: intronic/intergenic
rs189378943	4	54091454	C>T	0	intron_variant	MORF4L2P1 - GSX2	8e-12	Tier 4: intronic/intergenic
rs561678179	11	73829371	T>C	0.001	intron_variant	MRPL48	1e-11	Tier 4: intronic/intergenic
rs551004215	3	148303719	G>A	0	intron_variant		2e-11	Tier 4: intronic/intergenic
rs551001465	14	71615506	G>A	0	intron_variant	SIPA1L1	2e-11	Tier 4: intronic/intergenic
rs150766992	16	14192513	T>A		intron_variant	MRTFB	1e-08	Tier 4: intronic/intergenic
rs117169751	11	61170578	T>C		intergenic_variant	VPS37C - PGA3	6e-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: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE2	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01849250	PHASE2	COMPLETED	Study of Docosahexaenoic Acid (DHA) in Triple Negative Breast Cancer Survivors
NCT06090630	EARLY_PHASE1	COMPLETED	MR Correlated Spectroscopic Imaging for Diagnosing Breast Cancer
NCT06857669	Not specified	RECRUITING	Clinical Explorative Optical Breast Investigations
NCT07465523	Not specified	RECRUITING	A Novel Approach in the Evaluation of Breast Masses With Doppler US
NCT02172989	Not specified	COMPLETED	Clinical Application of Near-infrared Fluorescence Guided Localization on Breast Surgery in Benign Breast Neoplasm.
NCT06472700	Not specified	COMPLETED	Endoscopic Extirpation of Benign Breast Tumors Using a Lateral Chest Wall Incision
NCT06970561	Not specified	COMPLETED	Analysis of Recurrence of Intraductal Papilloma Treated With Vacuum-assisted Rotary Excision

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DOCONEXENT	3	1
CHEMBL4439413	0	1