Breast disorder
diseaseOn this page
Also known as breast diseasebreast disease or disorderbreast diseasesdisease of breastdisease or disorder of breastdisorder of breast
Summary
Breast disorder (MONDO:0002657) is a disease (an umbrella term covering 15 Mondo subtypes) with 19 GWAS associations across 34 studies and 111 clinical trials. Top therapeutic interventions include lapatinib, botulinum toxin type a, and denosumab. A subtype of disease by body system or component — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 15 Mondo subtypes
- GWAS associations: 19
- Clinical trials: 111
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | breast disorder |
| Mondo ID | MONDO:0002657 |
| EFO | EFO:0009483 |
| MeSH | D001941 |
| DOID | DOID:3463 |
| ICD-10-CM | N60-N65 |
| NCIT | C26709 |
| SNOMED CT | 79604008 |
| UMLS | C0006145 |
| MedGen | 652 |
| Anatomy (UBERON) | UBERON:0000310 |
| Is cancer (heuristic) | no |
Also known as: breast disease · breast disease or disorder · breast diseases · breast disorder · disease of breast · disease or disorder of breast · disorder of breast
Data availability: 19 GWAS associations (34 studies).
Disease family
An umbrella term covering 15 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › breast disorder
Related subtypes (18): disorder of orbital region, integumentary system disorder, musculoskeletal system disorder, urinary system disorder, syndromic disease, auditory system disorder, connective tissue disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, hematologic disorder, mouth disorder, disorder of visual system, otorhinolaryngologic disease
Subtypes (15): breast abscess, hypertrophy of breast, fat necrosis of breast, breast angiomatosis, breast adenosis, benign mammary dysplasia, breast fibrocystic disease, 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
Genetics & variants
GWAS landscape
19 GWAS associations across 34 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs189272544 | 4e-12 | CDH12 - Y_RNA | C | 3.09 |
| rs12372314 | 6e-12 | PTHLH - CCDC91 | G | 0.21 |
| chr10:62509005 | 1e-11 | C | 0.09 | |
| rs530696374 | 2e-11 | CAPN14 | T | 2.9 |
| chr6:151630085 | 3e-11 | G | 0.1 | |
| chr4:74567271 | 3e-11 | G | 0.06 | |
| chr11:65490056 | 8e-11 | G | 0.07 | |
| chr1:50424977 | 3e-10 | G | 0.05 | |
| chr9:126624346 | 3e-09 | T | 0.05 | |
| chr14:68552821 | 3e-09 | T | 0.06 | |
| chr22:45930740 | 3e-09 | A | 0.05 | |
| chr5:158825492 | 5e-09 | GA | 0.05 | |
| chr6:149255943 | 2e-08 | G | 0.05 | |
| chr2:71947191 | 2e-08 | T | 2.24 | |
| chr12:21082756 | 3e-08 | A | 0.05 | |
| rs147084152 | 5e-08 | WWTR1 | ? | |
| chr20:50299874 | 5e-08 | A | 0.05 | |
| rs1793609 | 4e-07 | RN7SL167P - NTM | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90474216 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 35,462 | 422,978 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667849 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 35,462 | 422,978 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90476164 | Verma A | 2024 | 5,501 | 437,646 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652098 | Liu TY | 2025 | 3,801 | 227,375 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90727144 | Kim HI | 2026 | 3,791 | 40,235 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90478672 | Verma A | 2024 | 3,022 | 115,363 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480429 | Verma A | 2024 | 3,022 | 115,363 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651736 | Liu TY | 2025 | 2,672 | 227,375 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90436476 | Zhou W | 2018 | 1,983 | 406,978 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478676 | Verma A | 2024 | 1,080 | 447,451 | 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 | 18 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 14 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 13 |
| intergenic_variant | 3 |
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs189272544 | 5 | 23238388 | C>T | 0.001 | intergenic_variant | CDH12 - Y_RNA | 4e-12 | Tier 4: intronic/intergenic |
| rs12372314 | 12 | 28004340 | G>A | 0.182 | intergenic_variant | PTHLH - CCDC91 | 6e-12 | Tier 4: intronic/intergenic |
| chr10:62509005 | 1e-11 | Tier 4: intronic/intergenic | ||||||
| rs530696374 | 2 | 31190282 | T>G | 0.001 | intron_variant | CAPN14 | 2e-11 | Tier 4: intronic/intergenic |
| chr6:151630085 | 3e-11 | Tier 4: intronic/intergenic | ||||||
| chr4:74567271 | 3e-11 | Tier 4: intronic/intergenic | ||||||
| chr11:65490056 | 8e-11 | Tier 4: intronic/intergenic | ||||||
| chr1:50424977 | 3e-10 | Tier 4: intronic/intergenic | ||||||
| chr9:126624346 | 3e-09 | Tier 4: intronic/intergenic | ||||||
| chr14:68552821 | 3e-09 | Tier 4: intronic/intergenic | ||||||
| chr22:45930740 | 3e-09 | Tier 4: intronic/intergenic | ||||||
| chr5:158825492 | 5e-09 | Tier 4: intronic/intergenic | ||||||
| chr6:149255943 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr2:71947191 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr12:21082756 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| rs147084152 | 3 | 149730214 | G>A,C | intergenic_variant | WWTR1 | 5e-08 | Tier 4: intronic/intergenic | |
| chr20:50299874 | 5e-08 | Tier 4: intronic/intergenic | ||||||
| rs1793609 | 11 | 131180999 | G>A,C,T | 0.05 | intron_variant | RN7SL167P - NTM | 4e-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
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Remifentanil | Phase 3 (in late-stage trials) |
Clinical trials & evidence
Clinical trials
Clinical trials: 111.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 79 |
| PHASE2 | 9 |
| PHASE3 | 8 |
| PHASE4 | 5 |
| PHASE1 | 4 |
| PHASE1/PHASE2 | 3 |
| PHASE2/PHASE3 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05465031 | PHASE4 | RECRUITING | Sacubitril/Valsartan in PriMAry preventIoN of the Cardiotoxicity of Systematic breaST canceR trEAtMent (MAINSTREAM) |
| NCT07463430 | PHASE4 | ENROLLING_BY_INVITATION | Suzetrigine for Non-Mastectomy Breast Surgery |
| NCT01427400 | PHASE4 | UNKNOWN | The Use of Botulinum Toxin A in Two-Stage Tissue Expander/ Implant Breast Reconstruction |
| NCT03024697 | PHASE4 | COMPLETED | Single-shot Pectoral Plane(PECs) Block Versus Continuous Local Anaesthetic Infusion Analgesia or Both PECS Block and Local Anaesthetic Infusion After Breast Surgery: A Prospective Randomised, Double-blind Trial |
| NCT03730051 | PHASE4 | COMPLETED | Dotarem vs Gadobutrol Contrast for Breast MRI |
| NCT04711109 | PHASE3 | ACTIVE_NOT_RECRUITING | Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation |
| NCT00039780 | PHASE3 | COMPLETED | Evaluation of BNP7787 for the Prevention of Neurotoxicity in Metastatic Breast Cancer Patients Receiving Weekly Paclitaxel |
| NCT00299039 | PHASE3 | COMPLETED | T3AI-Pain After Breast Surgery |
| NCT01039051 | PHASE2/PHASE3 | UNKNOWN | Diet and Lifestyle Intervention Study in Postpartum Women in China |
| NCT01591746 | PHASE3 | COMPLETED | Botulinum Toxin A (Botox) in Tissue Expander Breast Reconstruction |
| NCT01917279 | PHASE3 | UNKNOWN | Capecitabine Maintenance Therapy Following Capecitabine Combined With Docetaxel in Treatment of mBC |
| NCT03500380 | PHASE2/PHASE3 | UNKNOWN | A Study of RC48-ADC Administered Intravenously to Patients With HER2-Positive Metastatic Breast Cancer With or Without Liver Metastases |
| NCT03764267 | PHASE3 | COMPLETED | MAC vs TIVA Ambulatory Breast Augmentation |
| NCT04606329 | PHASE3 | COMPLETED | To Evaluate the Efficacy and Safety of LuminoMark Injection in Patients With Nonpalpable Breast Lesions(Phase 3) |
| NCT04718324 | PHASE3 | COMPLETED | PREMs on PROMs in Breast Disease (PREMs_PROMs) |
| NCT03304080 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in HR-positive, HER2-positive Metastatic Breast |
| NCT05386108 | PHASE1/PHASE2 | RECRUITING | Study of Abemaciclib and Elacestrant in Participants With Brain Metastasis Due to ER+/HER-2- Breast Cancer |
| NCT06335069 | PHASE2 | RECRUITING | 18F-FDG Versus 68Ga-FAPI-46 as PET Tracer in ER-positive Breast Cancer. |
| NCT07581834 | PHASE2 | RECRUITING | Efficacy and Safety of Dalpiciclib Combined With Endocrine Adjuvant Therapy for Early HR +/HER2- Breast Cancer: a Multicenter, Prospective Clinical Study |
| NCT00050427 | PHASE2 | COMPLETED | A Study of ET-743 (Trabectedin) in Patients With Advanced Breast Cancer |
| NCT01043913 | PHASE2 | COMPLETED | Guarana (Paullinia Cupana) for Breast Cancer Chemotherapy-related Fatigue |
| NCT01472146 | PHASE2 | COMPLETED | ZoNantax - Zolendronic Acid as Neoadjuvant Therapy Plus Anthracycline and Taxane in Locally Advanced Breast Cancer |
| NCT03709446 | PHASE1/PHASE2 | COMPLETED | Leflunomide in Previously Treated Metastatic Triple Negative Cancers |
| NCT03743259 | PHASE2 | COMPLETED | To Evaluate the Efficacy and Safety of LuminoMark Injection in Patients With Nonpalpable Breast Lesions |
| NCT03910712 | PHASE2 | UNKNOWN | Pyrotinib Combined With Trastuzumab and AI in the First-line Treatment of HER2 Positive/ HR Positive MBC |
| NCT04088110 | PHASE2 | UNKNOWN | Pyrotinib Combined With Trastuzumab Plus Aromatase Inhibitor in Treatment of Breast Cancer |
| NCT04605575 | PHASE2 | UNKNOWN | Pyrotinib Plus Vinorelbine in Participants With HER2-positive Previously Treated Locally Advanced or Metastatic Breast Cancer |
| NCT07038369 | PHASE1 | ACTIVE_NOT_RECRUITING | A Phase 1 Study of ATV-1601 in Patients With Advanced Cancer That Have AKT1 E17K Mutations |
| NCT02897778 | PHASE1 | COMPLETED | Cardiac Safety Study of Entinostat in Men and Women With Advanced Solid Tumors |
| NCT02909452 | PHASE1 | COMPLETED | Continuation Study of Entinostat in Combination With Pembrolizumab in Patients With Advanced Solid Tumors |
| NCT06886659 | PHASE1 | COMPLETED | A Study to Compare PK, Immunogenicity and Safety of Trastuzumab of Incepta Pharmaceuticals Ltd With Trastuzumab (Roche) |
| NCT04341129 | EARLY_PHASE1 | COMPLETED | Abbreviated MRI Protocol: Initial Experience With Dotarem® (Gadoterate Meglumine) |
| NCT04854304 | Not specified | ACTIVE_NOT_RECRUITING | Abbreviate or FAST Breast MRI for Supplemental Breast Cancer Screening for Black Women at Average Risk and Dense Breasts |
| NCT05006196 | Not specified | ACTIVE_NOT_RECRUITING | Contrast-Free Magnetic Resonance Imaging for Breast Disease |
| NCT05395949 | Not specified | ENROLLING_BY_INVITATION | A Randomized Controlled Study of Conservative Treatment of Granulomatous Lobular Mastitis Combined With Psychiatric Disorders |
| NCT05441943 | Not specified | ACTIVE_NOT_RECRUITING | Lymphaticovenous Anastomosis as Treatment for Lymphedema |
| NCT05720039 | Not specified | ACTIVE_NOT_RECRUITING | Robotic vs. Open NSM for Early Stage Breast Cancer |
| NCT06118996 | Not specified | RECRUITING | Breast 3DUS ABUS System Comparison |
| NCT06341283 | Not specified | NOT_YET_RECRUITING | A Retrospective Real-world Study of Abemaciclib in HR+ Breast Cancer |
| NCT06507345 | Not specified | RECRUITING | Postoperative Analgesia Intervention With Non-opioid Alternatives (PAIN-Alt) Trial - Breast Surgery |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LAPATINIB | 4 | 3 |
| BOTULINUM TOXIN TYPE A | 4 | 1 |
| DENOSUMAB | 4 | 1 |
| ELACESTRANT | 4 | 1 |
| GADOBUTROL | 4 | 1 |
| GADOTERATE MEGLUMINE | 4 | 1 |
| LEFLUNOMIDE | 4 | 1 |
| SODIUM CHLORIDE | 4 | 1 |
| TRABECTEDIN | 4 | 1 |
| ENTINOSTAT | 3 | 2 |
| PYROTINIB | 3 | 2 |
| DALPICICLIB | 3 | 1 |
| DIMESNA | 3 | 1 |
| LAVENDER OIL | 3 | 1 |
| SUZETRIGINE | 3 | 1 |
| CHEMBL365847 | 0 | 1 |
| PEPPERMINT WATER | -1 | 1 |