Breast fibrocystic disease
diseaseOn this page
Also known as benign breast diseasebreast fibrocystic changecystic disease of breastcystic disease of the breastdiffuse cystic mastopathyfibrocystic breastfibrocystic breast changesfibrocystic breast diseasefibrocystic change of breastfibrocystic change of the breastfibrocystic diseasefibrocystic disease of breastfibrocystic disease of the breastfibrocystic mastopathymammary dysplasia
Summary
Breast fibrocystic disease (MONDO:0005219) is a disease with 3 GWAS associations across 11 studies and 25 clinical trials. Top therapeutic interventions include tamoxifen, abemaciclib, and danazol. A subtype of breast disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 3
- Clinical trials: 25
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | breast fibrocystic disease |
| Mondo ID | MONDO:0005219 |
| EFO | EFO:0003014 |
| MeSH | D005348 |
| DOID | DOID:10354 |
| ICD-10-CM | N60.1 |
| NCIT | C3039 |
| UMLS | C0016034 |
| MedGen | 42015 |
| Is cancer (heuristic) | no |
Also known as: 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
Data availability: 3 GWAS associations (11 studies).
Disease family
This is a subtype of breast disorder. 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 body system or component › breast disorder › breast fibrocystic disease
Related subtypes (14): breast abscess, hypertrophy of breast, fat necrosis of breast, breast angiomatosis, breast adenosis, benign mammary dysplasia, mastitis, familial juvenile hypertrophy of the breast, supernumerary breasts, isolated congenital breast hypoplasia/aplasia, syndromic breast hypoplasia/aplasia, breast neoplasm, lactation disease, breast implant illness
Subtypes (2): breast fibrocystic change, proliferative type, non-proliferative fibrocystic change of the breast
Genetics & variants
GWAS landscape
3 GWAS associations across 11 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs17822931 | 1e-16 | ABCC11 | ? | |
| rs146869880 | 1e-09 | CSMD1 | ? | |
| rs35853323 | 2e-08 | MIR493HG | A | 0.22 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90080638 | Backman JD | 2021 | 3,431 | 203,229 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084624 | Backman JD | 2021 | 3,431 | 203,229 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90018879 | Sakaue S | 2021 | 2,541 | 257,308 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90478655 | Verma A | 2024 | 1,809 | 28,708 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651201 | Liu TY | 2025 | 1,628 | 112,423 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90478654 | Verma A | 2024 | 980 | 14,474 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480939 | Verma A | 2024 | 980 | 14,474 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436465 | Zhou W | 2018 | 928 | 401,746 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90651312 | Liu TY | 2025 | 868 | 112,423 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90018659 | Sakaue S | 2021 | 575 | 82,186 | A cross-population atlas of genetic associations for 220 human phenotypes. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs17822931 | 16 | 48224287 | C>A,G,T | 0.05 | missense_variant | ABCC11 | 1e-16 | Tier 1: coding |
| rs146869880 | 8 | 4434114 | G>C,T | intron_variant | CSMD1 | 1e-09 | Tier 4: intronic/intergenic | |
| rs35853323 | 14 | 100876156 | G>A | 0.05 | intron_variant | MIR493HG | 2e-08 | 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
Drugs indicated for this disease
1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Danazol | Approved (phase 4) |
Clinical trials & evidence
Clinical trials
Clinical trials: 25.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 17 |
| PHASE4 | 3 |
| PHASE3 | 2 |
| PHASE2 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00999921 | PHASE4 | COMPLETED | Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer |
| NCT02929420 | PHASE4 | UNKNOWN | A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule |
| NCT05717894 | PHASE4 | COMPLETED | Possibilities of Phytomedicine in Monotherapy of Benign Breast Diseases |
| NCT00237523 | PHASE3 | UNKNOWN | Study for Treatment of Moderate or Severe, Periodic, Cyclic, Breast Pain |
| NCT00967681 | PHASE3 | COMPLETED | Efficacy and Safety of ONCOXIN in Patients With Breast Fibrocystic Disease |
| NCT00744276 | PHASE2 | COMPLETED | A Study of Topical Danazol for the Treatment of Pain Associated With Fibrocystic Breast Disease |
| NCT03979508 | PHASE2 | TERMINATED | Abemaciclib in Treating Patients With Surgically Resectable, Chemotherapy Resistant, Triple Negative Breast Cancer |
| NCT00826488 | EARLY_PHASE1 | COMPLETED | A Comparison of Breast Tomosynthesis Mammography and Conventional Breast Imaging in the Characterization of Breast Masses |
| NCT01937039 | Not specified | ACTIVE_NOT_RECRUITING | Johns Hopkins Breast Cancer Program Longitudinal Repository |
| NCT04585074 | Not specified | ACTIVE_NOT_RECRUITING | Prospective Study of MAstectomy With Reconstruction Including Robot Endoscopic Surgery |
| NCT06255808 | Not specified | ACTIVE_NOT_RECRUITING | Development of Assist Tool for Breast Examination Using the Principle of Ultrasonic Sensor |
| NCT06264934 | Not specified | RECRUITING | An Investigation Into Dielectric Assessment of Permittivity and Conductivity in Human Using a Novel Electrical Capacitance Tomography Scanner |
| NCT00259597 | Not specified | COMPLETED | Nuclear Morphology of Breast Cells in Ductal Lavage |
| NCT00310882 | Not specified | WITHDRAWN | Involvement of Endogenous Digitalis-like Compounds in Breast Cancer |
| NCT00842465 | Not specified | COMPLETED | Prolactin Receptor and Breast Diseases |
| NCT01116869 | Not specified | COMPLETED | China CellSearch Study |
| NCT01160510 | Not specified | COMPLETED | Genetics of Mammographic Appearances and Patterns (The GenMap Study) |
| NCT02239874 | Not specified | UNKNOWN | VITamin D and OmegA-3 TriaL: Effects on Mammographic Density and Breast Tissue |
| NCT04127422 | Not specified | UNKNOWN | Risk Factors for Benign Breast Disease |
| NCT04131972 | Not specified | COMPLETED | REGENERA Implant in Excised Non-Malignant Breast Lesions |
| NCT04258085 | Not specified | COMPLETED | Promoting Earlier Detection of Breast Cancer in Rwanda: Scaleup in the National Health Care System |
| NCT04744766 | Not specified | COMPLETED | Central Mammary Duct Excision; How to Improve the Outcome? |
| NCT05364138 | Not specified | COMPLETED | Evaluating Scaleup of an Adapted Breast Cancer Early Diagnosis Program in Rwanda |
| NCT05836246 | Not specified | UNKNOWN | The Development of Quantitative Ultrasound Imaging Software Platform |
| NCT05857111 | Not specified | UNKNOWN | Effectiveness Validation of CELBREA® in Symptomatic Women or With Diagnostic Doubt of Breast Pathology (DETECT-BH) |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TAMOXIFEN | 4 | 3 |
| ABEMACICLIB | 4 | 1 |
| DANAZOL | 4 | 1 |
| FISH OIL | 4 | 1 |
| CHEMBL5190225 | 0 | 1 |
Related Atlas pages
- Drugs: Tamoxifen, Abemaciclib, Danazol, Fish Oil