Uterine cancer
diseaseOn this page
Also known as cancer of the uteruscancer of uterusmalignant neoplasm of the uterusmalignant neoplasm of uterusmalignant tumor of the uterusmalignant tumor of uterusmalignant tumour of the uterusmalignant tumour of uterusmalignant uterine neoplasmmalignant uterine tumormalignant uterine tumourmalignant uterus neoplasmneoplasm of uterustumor of uterustumour of uterusuterine tumoruterine tumouruterus canceruterus neoplasm
Summary
Uterine cancer (MONDO:0002715) is a cancer (an umbrella term covering 7 Mondo subtypes) with 3 cohort genes (4 GWAS associations across 4 studies; 3 CIViC-evidence somatic drivers) and 146 clinical trials. Molecularly, BRCA1 Mutation OR BRCA2 Mutation confers sensitivity to Olaparib in Uterine Cancer (CIViC Level B); 2 further subtype–drug associations are mapped below. Top therapeutic interventions include loperamide, afatinib, and copanlisib.
At a glance
- Classification: Cancer
- Umbrella term: 7 Mondo subtypes
- Cohort genes: 3
- GWAS associations: 4
- Clinical trials: 146
- Precision-medicine evidence (CIViC): 3 subtype–drug associations
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | uterine cancer |
| Mondo ID | MONDO:0002715 |
| MeSH | D014594 |
| DOID | DOID:363 |
| ICD-11 | 1551596364 |
| NCIT | C3552 |
| SNOMED CT | 371973000 |
| UMLS | C0153567 |
| MedGen | 57791 |
| Anatomy (UBERON) | UBERON:0000995 |
| Is cancer (heuristic) | yes |
Also known as: cancer of the uterus · cancer of uterus · malignant neoplasm of the uterus · malignant neoplasm of uterus · malignant tumor of the uterus · malignant tumor of uterus · malignant tumour of the uterus · malignant tumour of uterus · malignant uterine neoplasm · malignant uterine tumor · malignant uterine tumour · malignant uterus neoplasm · neoplasm of uterus · tumor of uterus · tumour of uterus · uterine cancer · uterine tumor · uterine tumour · uterus cancer · uterus neoplasm
Data availability: 4 GWAS associations (4 studies).
Disease family
An umbrella term covering 7 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › reproductive system cancer › female reproductive organ cancer › uterine cancer
Related subtypes (8): vaginal cancer, vulva cancer, fallopian tube cancer, adenocarcinofibroma, endometrioid adenocarcinoma, adenosarcoma, ovarian cancer, gestational choriocarcinoma
Subtypes (7): uterine adnexa cancer, placenta cancer, cervical cancer, uterine carcinoma, uterine corpus cancer, uterine carcinosarcoma, endometrial cancer
Genetics & variants
GWAS landscape
4 GWAS associations across 4 studies. Top hits map to 4 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs2899472 | 9e-12 | MIR4713HG, CYP19A1 | A | 0.14 |
| rs1740828 | 6e-11 | BOLA2P3 - CASC15 | A | 0.12 |
| rs9901746 | 7e-09 | HNF1B | G | 0.1 |
| rs61374999 | 7e-07 | MAST4 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90435608 | Zhou W | 2018 | 1,284 | 381,967 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90652194 | Liu TY | 2025 | 879 | 112,006 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90481507 | Verma A | 2024 | 316 | 32,638 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90399740 | Zhou W | 2022 | 83 | 5,786 | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. |
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 | 4 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 3 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs2899472 | 15 | 51223858 | C>A,T | 0.212 | intron_variant | MIR4713HG, CYP19A1 | 9e-12 | Tier 4: intronic/intergenic |
| rs1740828 | 6 | 21648854 | G>A | 0.445 | intergenic_variant | BOLA2P3 - CASC15 | 6e-11 | Tier 4: intronic/intergenic |
| rs9901746 | 17 | 37743158 | A>G | 0.474 | intron_variant | HNF1B | 7e-09 | Tier 4: intronic/intergenic |
| rs61374999 | 5 | 66948298 | G>A | intron_variant | MAST4 | 7e-07 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 25 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| BRCA1 | LoF | BLCA,BRCA,MEL,OVT | CIViC #6 |
| BRCA2 | LoF | BLCA,BRCA,CESC,CHOL,HCC,HNSC,LUSC,MBL,OVT,PAAD,PRAD,PROSTATE,RCC,VULVA | CIViC #7 |
| ERBB2 | Act | BLCA,BRCA,CESC,CHOL,COADREAD,EGC,ESCA,ESCC,LMS,LUAD,NSCLC,OVT,PRCC,READ,STAD,UCEC | CIViC #20 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| BRCA1 | Orphanet:1331 | Familial prostate cancer |
| BRCA1 | Orphanet:1333 | Familial pancreatic carcinoma |
| BRCA1 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| BRCA1 | Orphanet:168829 | Primary peritoneal carcinoma |
| BRCA1 | Orphanet:227535 | Hereditary breast cancer |
| BRCA1 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| BRCA1 | Orphanet:694963 | Inflammatory breast cancer |
| BRCA1 | Orphanet:70567 | Cholangiocarcinoma |
| BRCA1 | Orphanet:84 | Fanconi anemia |
| BRCA2 | Orphanet:1331 | Familial prostate cancer |
| BRCA2 | Orphanet:1333 | Familial pancreatic carcinoma |
| BRCA2 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| BRCA2 | Orphanet:178 | Chordoma |
| BRCA2 | Orphanet:227535 | Hereditary breast cancer |
| BRCA2 | Orphanet:319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
| BRCA2 | Orphanet:440437 | Familial colorectal cancer Type X |
| BRCA2 | Orphanet:654 | Nephroblastoma |
| BRCA2 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| BRCA2 | Orphanet:694963 | Inflammatory breast cancer |
| BRCA2 | Orphanet:70567 | Cholangiocarcinoma |
| BRCA2 | Orphanet:84 | Fanconi anemia |
| ERBB2 | Orphanet:213726 | Serous carcinoma of the corpus uteri |
| ERBB2 | Orphanet:2800 | Extramammary Paget disease |
| ERBB2 | Orphanet:388 | Hirschsprung disease |
| ERBB2 | Orphanet:99976 | Adenocarcinoma of the oesophagus and oesophagogastric junction |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| civic_only | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| BRCA1 | HGNC:1100 | ENSG00000012048 | P38398 | Breast cancer type 1 susceptibility protein | civic_evidence |
| BRCA2 | HGNC:1101 | ENSG00000139618 | P51587 | Breast cancer type 2 susceptibility protein | civic_evidence |
| ERBB2 | HGNC:3430 | ENSG00000141736 | P04626 | Receptor tyrosine-protein kinase erbB-2 | civic_evidence |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| BRCA1 | Breast cancer type 1 susceptibility protein | E3 ubiquitin-protein ligase that specifically mediates the formation of ‘Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. |
| BRCA2 | Breast cancer type 2 susceptibility protein | Involved in double-strand break repair and/or homologous recombination. |
| ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. |
Protein-family classification
Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Kinase | 1 | 9.2× | 0.313 |
| Transcription factor | 1 | 2.8× | 0.482 |
| Other/Unknown | 1 | 0.6× | 0.914 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| BRCA1 | Transcription factor | no | 2.3.2.27 | BRCT_dom, Znf_RING, BRCA1 |
| BRCA2 | Other/Unknown | no | BRCA2_repeat, NA-bd_OB-fold, BRCA2_OB_1 | |
| ERBB2 | Kinase | yes | 2.7.10.1 | Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom |
Expression context
Cohort genes with no expression data: 0.
3 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| ventricular zone | 2 |
| primordial germ cell in gonad | 1 |
| secondary oocyte | 1 |
| lower esophagus mucosa | 1 |
| right uterine tube | 1 |
| sural nerve | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| BRCA1 | 208 | ubiquitous | marker | ventricular zone, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad |
| BRCA2 | 184 | ubiquitous | marker | male germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, ventricular zone |
| ERBB2 | 276 | ubiquitous | marker | lower esophagus mucosa, right uterine tube, sural nerve |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ERBB2 | 9,659 |
| BRCA1 | 9,064 |
| BRCA2 | 4,839 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| BRCA1 | BRCA2 | string_interaction |
Structural data
PDB: 3 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ERBB2 | P04626 | 63 |
| BRCA1 | P38398 | 33 |
| BRCA2 | P51587 | 14 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 95. Enrichment computed across 3 evidence-associated genes (3 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Defective homologous recombination repair (HRR) due to PALB2 loss of function | 2 | 634.4× | 1e-04 | BRCA1, BRCA2 |
| Diseases of DNA Double-Strand Break Repair | 2 | 543.8× | 1e-04 | BRCA1, BRCA2 |
| Defective homologous recombination repair (HRR) due to BRCA2 loss of function | 2 | 543.8× | 1e-04 | BRCA1, BRCA2 |
| Resolution of D-Loop Structures | 2 | 423.0× | 2e-04 | BRCA1, BRCA2 |
| Diseases of DNA repair | 2 | 380.7× | 2e-04 | BRCA1, BRCA2 |
| Impaired BRCA2 binding to PALB2 | 2 | 304.5× | 2e-04 | BRCA1, BRCA2 |
| Defective homologous recombination repair (HRR) due to BRCA1 loss of function | 2 | 282.0× | 2e-04 | BRCA1, BRCA2 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | 2 | 282.0× | 2e-04 | BRCA1, BRCA2 |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | 2 | 282.0× | 2e-04 | BRCA1, BRCA2 |
| Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | 2 | 262.5× | 2e-04 | BRCA1, BRCA2 |
| Homologous DNA Pairing and Strand Exchange | 2 | 253.8× | 2e-04 | BRCA1, BRCA2 |
| Homology Directed Repair | 2 | 205.8× | 2e-04 | BRCA1, BRCA2 |
| HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 2 | 205.8× | 2e-04 | BRCA1, BRCA2 |
| Impaired BRCA2 binding to RAD51 | 2 | 205.8× | 2e-04 | BRCA1, BRCA2 |
| Resolution of D-loop Structures through Holliday Junction Intermediates | 2 | 200.3× | 2e-04 | BRCA1, BRCA2 |
| Meiosis | 2 | 190.3× | 2e-04 | BRCA1, BRCA2 |
| Presynaptic phase of homologous DNA pairing and strand exchange | 2 | 181.3× | 2e-04 | BRCA1, BRCA2 |
| DNA Double-Strand Break Repair | 2 | 165.5× | 3e-04 | BRCA1, BRCA2 |
| Reproduction | 2 | 126.9× | 4e-04 | BRCA1, BRCA2 |
| HDR through Homologous Recombination (HRR) | 2 | 126.9× | 4e-04 | BRCA1, BRCA2 |
| Meiotic recombination | 2 | 86.5× | 8e-04 | BRCA1, BRCA2 |
| DNA Repair | 2 | 65.6× | 0.001 | BRCA1, BRCA2 |
| Defective DNA double strand break response due to BRCA1 loss of function | 1 | 1903.3× | 0.002 | BRCA1 |
| Defective DNA double strand break response due to BARD1 loss of function | 1 | 1903.3× | 0.002 | BRCA1 |
| Impaired BRCA2 translocation to the nucleus | 1 | 1268.9× | 0.003 | BRCA2 |
| Impaired BRCA2 binding to SEM1 (DSS1) | 1 | 1268.9× | 0.003 | BRCA2 |
| PLCG1 events in ERBB2 signaling | 1 | 951.7× | 0.003 | ERBB2 |
| Drug-mediated inhibition of ERBB2 signaling | 1 | 951.7× | 0.003 | ERBB2 |
| Resistance of ERBB2 KD mutants to trastuzumab | 1 | 951.7× | 0.003 | ERBB2 |
| Resistance of ERBB2 KD mutants to sapitinib | 1 | 951.7× | 0.003 | ERBB2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of DNA damage checkpoint | 2 | 749.0× | 2e-04 | BRCA1, BRCA2 |
| cellular response to ionizing radiation | 2 | 274.0× | 9e-04 | BRCA1, BRCA2 |
| double-strand break repair | 2 | 135.4× | 0.002 | BRCA1, BRCA2 |
| double-strand break repair via homologous recombination | 2 | 104.0× | 0.003 | BRCA1, BRCA2 |
| mitotic recombination-dependent replication fork processing | 1 | 2808.7× | 0.007 | BRCA2 |
| immature T cell proliferation in thymus | 1 | 1123.5× | 0.010 | ERBB2 |
| negative regulation of mammary gland epithelial cell proliferation | 1 | 1123.5× | 0.010 | BRCA2 |
| cellular response to indole-3-methanol | 1 | 1123.5× | 0.010 | BRCA1 |
| negative regulation of immature T cell proliferation in thymus | 1 | 936.2× | 0.010 | ERBB2 |
| ERBB2-ERBB4 signaling pathway | 1 | 936.2× | 0.010 | ERBB2 |
| chordate embryonic development | 1 | 936.2× | 0.010 | BRCA1 |
| negative regulation of centriole replication | 1 | 802.5× | 0.010 | BRCA1 |
| establishment of protein localization to telomere | 1 | 702.2× | 0.010 | BRCA2 |
| DNA strand resection involved in replication fork processing | 1 | 702.2× | 0.010 | BRCA1 |
| regulation of microtubule-based process | 1 | 624.1× | 0.010 | ERBB2 |
| DNA damage tolerance | 1 | 561.7× | 0.010 | BRCA1 |
| response to UV-C | 1 | 561.7× | 0.010 | BRCA2 |
| ERBB2-ERBB3 signaling pathway | 1 | 561.7× | 0.010 | ERBB2 |
| ERBB2-EGFR signaling pathway | 1 | 561.7× | 0.010 | ERBB2 |
| telomere maintenance via recombination | 1 | 510.7× | 0.010 | BRCA2 |
| homologous recombination | 1 | 468.1× | 0.011 | BRCA1 |
| enzyme-linked receptor protein signaling pathway | 1 | 432.1× | 0.011 | ERBB2 |
| negative regulation of intracellular estrogen receptor signaling pathway | 1 | 374.5× | 0.011 | BRCA1 |
| Schwann cell development | 1 | 351.1× | 0.011 | ERBB2 |
| negative regulation of gene expression via chromosomal CpG island methylation | 1 | 351.1× | 0.011 | BRCA1 |
| inner cell mass cell proliferation | 1 | 330.4× | 0.011 | BRCA2 |
| protein K6-linked ubiquitination | 1 | 330.4× | 0.011 | BRCA1 |
| centrosome duplication | 1 | 312.1× | 0.011 | BRCA2 |
| random inactivation of X chromosome | 1 | 312.1× | 0.011 | BRCA1 |
| negative regulation of reactive oxygen species metabolic process | 1 | 312.1× | 0.011 | BRCA1 |
Therapeutics
Drugs indicated for this disease
0 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Carboplatin | Phase 3 (in late-stage trials) |
| Cisplatin | Phase 3 (in late-stage trials) |
| Paclitaxel | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bevacizumab, Celecoxib, Everolimus, Fluoroestradiol, Ifosfamide, Letrozole, Megestrol Acetate.
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 1
Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| BRCA1 | RIBOFLAVIN |
| ERBB2 | CLOTRIMAZOLE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| ERBB2 | 83 | 4 |
| BRCA1 | 12 | 4 |
| BRCA2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| RIBOFLAVIN | 4 | BRCA1 |
| DAUNORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| TOPOTECAN HYDROCHLORIDE | 4 | BRCA1 |
| DAUNORUBICIN | 4 | BRCA1 |
| DOXORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| MESALAMINE | 4 | BRCA1 |
| DIPYRIDAMOLE | 4 | BRCA1 |
| CLOTRIMAZOLE | 4 | ERBB2 |
| ERLOTINIB HYDROCHLORIDE | 4 | ERBB2 |
| PONATINIB | 4 | ERBB2 |
| AFATINIB | 4 | ERBB2 |
| LAPATINIB DITOSYLATE | 4 | ERBB2 |
| SORAFENIB | 4 | ERBB2 |
| NERATINIB | 4 | ERBB2 |
| IBRUTINIB | 4 | ERBB2 |
| AFATINIB DIMALEATE | 4 | ERBB2 |
| CABOZANTINIB | 4 | ERBB2 |
| DACOMITINIB | 4 | ERBB2 |
| DACOMITINIB ANHYDROUS | 4 | ERBB2 |
| VANDETANIB | 4 | ERBB2 |
| TRIBROMSALAN | 4 | ERBB2 |
| BOSUTINIB | 4 | ERBB2 |
| BITHIONOL | 4 | ERBB2 |
| ASTEMIZOLE | 4 | ERBB2 |
| EBASTINE | 4 | ERBB2 |
| OSIMERTINIB | 4 | ERBB2 |
| BRIGATINIB | 4 | ERBB2 |
| ACALABRUTINIB | 4 | ERBB2 |
| ZANUBRUTINIB | 4 | ERBB2 |
| TUCATINIB | 4 | ERBB2 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| ERBB2 | 1,221 | Binding:1136, Functional:79, ADMET:6 |
| BRCA1 | 13 | Binding:9, Functional:4 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| BRCA1 | 2.3.2.27 | RING-type E3 ubiquitin transferase |
| ERBB2 | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| ERBB2 | 1,221 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
28 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| RIBOFLAVIN | 4 | BRCA1 |
| DAUNORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| TOPOTECAN HYDROCHLORIDE | 4 | BRCA1 |
| DAUNORUBICIN | 4 | BRCA1 |
| DOXORUBICIN HYDROCHLORIDE | 4 | BRCA1 |
| MESALAMINE | 4 | BRCA1 |
| DIPYRIDAMOLE | 4 | BRCA1 |
| CLOTRIMAZOLE | 4 | ERBB2 |
| ERLOTINIB HYDROCHLORIDE | 4 | ERBB2 |
| PONATINIB | 4 | ERBB2 |
| LAPATINIB DITOSYLATE | 4 | ERBB2 |
| SORAFENIB | 4 | ERBB2 |
| NERATINIB | 4 | ERBB2 |
| IBRUTINIB | 4 | ERBB2 |
| AFATINIB DIMALEATE | 4 | ERBB2 |
| CABOZANTINIB | 4 | ERBB2 |
| DACOMITINIB | 4 | ERBB2 |
| DACOMITINIB ANHYDROUS | 4 | ERBB2 |
| VANDETANIB | 4 | ERBB2 |
| TRIBROMSALAN | 4 | ERBB2 |
| BOSUTINIB | 4 | ERBB2 |
| BITHIONOL | 4 | ERBB2 |
| ASTEMIZOLE | 4 | ERBB2 |
| EBASTINE | 4 | ERBB2 |
| BRIGATINIB | 4 | ERBB2 |
| ACALABRUTINIB | 4 | ERBB2 |
| ZANUBRUTINIB | 4 | ERBB2 |
| TUCATINIB | 4 | ERBB2 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | BRCA1, ERBB2 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | BRCA2 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| BRCA2 | 0 | BRCA1 |
Clinical trials & evidence
Clinical trials
Clinical trials: 146.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 86 |
| PHASE2 | 31 |
| PHASE1/PHASE2 | 11 |
| PHASE1 | 9 |
| PHASE4 | 5 |
| EARLY_PHASE1 | 2 |
| PHASE2/PHASE3 | 1 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01432015 | PHASE4 | COMPLETED | Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting |
| NCT01492179 | PHASE4 | COMPLETED | Intravenous or Intra-abdominal Local Anesthetics for Postoperative Pain Management. |
| NCT01953107 | PHASE4 | COMPLETED | Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. |
| NCT01962272 | PHASE4 | COMPLETED | The Effect of Nutritional Counseling for Cancer Patients |
| NCT03423082 | PHASE4 | TERMINATED | Pilot Study to Assess the Potential Clinical Utility of 18F Fluciclovine PET for Cervical and Endometrial Cancer. |
| NCT03285802 | PHASE2/PHASE3 | COMPLETED | Treatment Plan for an Individual Patient With Recurrent Uterine Papillary Serous Carcinoma (UPSC) With PIK3CA Gene Mutation |
| NCT04849858 | PHASE3 | TERMINATED | Pilot Study of Liposomal Bupivacaine Redosing in Patients Undergoing Major Gynecologic Procedures |
| NCT02465060 | PHASE2 | ACTIVE_NOT_RECRUITING | Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) |
| NCT03476681 | PHASE1/PHASE2 | RECRUITING | Study of NEO-201 in Solid Tumors Expansion Cohorts |
| NCT03668340 | PHASE2 | ACTIVE_NOT_RECRUITING | AZD1775 in Women With Recurrent or Persistent Uterine Serous Carcinoma or Uterine Carcinosarcoma |
| NCT05559879 | PHASE1/PHASE2 | RECRUITING | Cabozantinib and Dostarlimab in Recurrent Gynecologic Carcinosarcoma |
| NCT05579366 | PHASE1/PHASE2 | RECRUITING | Rinatabart Sesutecan (Rina-S, PRO1184, GEN1184) for Advanced Solid Tumors (GCT1184-01/ PRO1184-001) |
| NCT05758688 | PHASE2 | RECRUITING | PROton Therapy for Post Surgical Treatment of GYNecologic Cancer |
| NCT05864144 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | A Study of SNS-101 (Anti VISTA) Monotherapy and in Combination With Cemiplimab in Patients With Advanced Solid Tumors |
| NCT05916196 | PHASE2 | RECRUITING | [18F]FES PET/.CT in Uterine Cancer |
| NCT06040970 | PHASE1/PHASE2 | RECRUITING | Sacituzumab Govitecan in Combination With Cisplatin in Platinum Sensitive Recurrent Ovarian and Endometrial Cancer |
| NCT06369155 | PHASE2 | RECRUITING | Azenosertib in Uterine Serous Carcinoma: Biomarker Study |
| NCT06492070 | PHASE2 | RECRUITING | Cryocompression With or Without Cilostazol for the Prevention of Paclitaxel-induced Neuropathy in Patients With Gynecological Cancers |
| NCT06677190 | PHASE2 | RECRUITING | Belzutifan in Recurrent Clear Cell Carcinoma of Gynecologic Origin |
| NCT00147680 | PHASE2 | COMPLETED | Uterine Papillary Serous Cancer (UPSC) Trial |
| NCT00231829 | PHASE2 | TERMINATED | A Pilot Study of Celecoxib in Patients With Grade 2 or 3 Uterine Cancers |
| NCT00231842 | PHASE2 | COMPLETED | Adjuvant Radiation Therapy With Ifosfamide in Patients With Mixed Mesodermal Tumors of the Uterus |
| NCT00231868 | PHASE2 | COMPLETED | A Study of Radiation Therapy and Paclitaxel and Carboplatin in Patients With Uterine Papillary Serous Carcinoma |
| NCT00275353 | PHASE2 | COMPLETED | Effectiveness of an Individualized Symptom Education Program (ISEP) |
| NCT00284427 | PHASE2 | COMPLETED | Safety of Antioxidants During GYN Cancer Care |
| NCT00506779 | PHASE1/PHASE2 | TERMINATED | Gleevec/Taxol for Patients With Uterine Papillary Serous Carcinoma |
| NCT00582205 | PHASE2 | TERMINATED | Feasibility Trial of Intraperitoneal Chemotherapy for Ovarian, Fallopian Tube, and Primary Peritoneal Carcinoma |
| NCT00584857 | PHASE2 | COMPLETED | A Phase II Study of Therapy With Paclitaxel, Carboplatin and Megesterol Acetate for the Management of Uterine Cancer |
| NCT00584909 | PHASE2 | TERMINATED | A Phase II Study of Paclitaxel and Carboplatin in Patients With an Elevated-Risk Cancer of the Uterus |
| NCT00588640 | PHASE1/PHASE2 | COMPLETED | Study of D-Methadone in Patients With Chronic Pain |
| NCT00626561 | PHASE2 | TERMINATED | Bevacizumab and Paclitaxel for Neuroendocrine Tumors of the Cervix |
| NCT01163552 | PHASE2 | COMPLETED | Heated Chemotherapy for Cancers That Have Spread to the Chest Cavity |
| NCT01176500 | PHASE1/PHASE2 | WITHDRAWN | A Pilot, Open-label Study of 18F-Fluciclatide PET/CT Imaging in the Evaluation of Anti-angiogenic Therapy in Solid Tumors |
| NCT01399658 | PHASE2 | COMPLETED | Image-Guided Gynecologic Brachytherapy |
| NCT01650376 | PHASE1/PHASE2 | UNKNOWN | Phase Ib Study of Olaparib Plus Weekly Carboplatin and Paclitaxel in Relapsed Ovarian Cancer |
| NCT02095847 | PHASE2 | WITHDRAWN | High-Resolution Microendoscopy to Guide Hysteroscopic Tumor Resection |
| NCT02349958 | PHASE2 | UNKNOWN | Clinical Trial of Intraperitoneal Hyperthermic Chemotherapy |
| NCT02725489 | PHASE2 | COMPLETED | Pilot Study of Durvalumab and Vigil in Advanced Women’s Cancers |
| NCT03073525 | PHASE2 | COMPLETED | A Trial of Atezolizumab and Vigil in Patients With Advanced Gynecological Cancers |
| NCT03192059 | PHASE2 | COMPLETED | Study of Pembrolizumab, Radiation and Immune Modulatory Cocktail in Cervical/Uterine Cancer |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LOPERAMIDE | 4 | 3 |
| AFATINIB | 4 | 2 |
| COPANLISIB | 4 | 2 |
| DABRAFENIB | 4 | 2 |
| LAROTRECTINIB | 4 | 2 |
| APREPITANT | 4 | 1 |
| BELZUTIFAN | 4 | 1 |
| BINIMETINIB | 4 | 1 |
| CAPIVASERTIB | 4 | 1 |
| CEMIPLIMAB | 4 | 1 |
| CILOSTAZOL | 4 | 1 |
| CRIZOTINIB | 4 | 1 |
| DOSTARLIMAB | 4 | 1 |
| ERDAFITINIB | 4 | 1 |
| FERROUS FUMARATE | 4 | 1 |
| FLUOROURACIL | 4 | 1 |
| FOSAPREPITANT | 4 | 1 |
| LIDOCAINE | 4 | 1 |
| MEGESTROL ACETATE | 4 | 1 |
| OLAPARIB | 4 | 1 |
| OSIMERTINIB | 4 | 1 |
| PALBOCICLIB | 4 | 1 |
| RELATLIMAB | 4 | 1 |
| SUNITINIB MALATE | 4 | 1 |
| TRAMETINIB | 4 | 1 |
| TRASTUZUMAB EMTANSINE | 4 | 1 |
| VISMODEGIB | 4 | 1 |
| DEFACTINIB | 3 | 3 |
| CURCUMIN | 3 | 1 |
| ESMETHADONE | 3 | 1 |
Precision-medicine subtype map (CIViC)
Drug × molecular subtype: 3 predictive associations from 3 curated evidence items; also 2 diagnostic, 1 prognostic.
| Molecular subtype | Therapy | Effect | Level | CIViC |
|---|---|---|---|---|
| BRCA1 Mutation OR BRCA2 Mutation | Olaparib | Sensitivity/Response | CIViC B | EID12766 |
| ERBB2 Amplification | Trastuzumab + Pertuzumab | Sensitivity/Response | CIViC B | EID5986 |
| EPHA2 Expression | Dasatinib + Trametinib | Sensitivity/Response | CIViC D | EID12576 |
Related Atlas pages
- Cohort genes: BRCA1, BRCA2, ERBB2
- Drugs: Loperamide, Afatinib, Copanlisib, Dabrafenib, Larotrectinib, Aprepitant, Belzutifan, Binimetinib, Capivasertib, Cemiplimab, Cilostazol, Crizotinib, Dostarlimab, Erdafitinib, Ferrous Fumarate, Fluorouracil, Fosaprepitant, Lidocaine, Megestrol Acetate, Olaparib, Osimertinib, Palbociclib, Relatlimab, Sunitinib Malate, Trametinib, Trastuzumab Emtansine, Vismodegib, Defactinib, Curcumin, Esmethadone