Tumor of uterus

Summary

Tumor of uterus (MONDO:0021353) is a cancer (an umbrella term covering 6 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 52 clinical trials. Top therapeutic interventions include dexamethasone, norethindrone acetate, and relugolix.

At a glance

• Classification: Cancer
• Umbrella term: 6 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 52

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	tumor of uterus
Mondo ID	MONDO:0021353
EFO	EFO:0003859
NCIT	C3435
SNOMED CT	126908007
UMLS	C0042138
MedGen	12030
Anatomy (UBERON)	UBERON:0000995
Is cancer (heuristic)	yes

Also known as: neoplasm of the uterus · neoplasm of uterus · tumor of the uterus · tumor of uterus · tumour of the uterus · uterine neoplasm · uterine neoplasms · uterine tumor · uterine tumour · uterus neoplasm · uterus neoplasm (disease) · uterus tumor · uterus tumour

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › female reproductive system disorder › uterine disorder › tumor of uterus

Related subtypes (20): pyometritis, endometrial disorder, female infertility of uterine origin, uterine inflammatory disease, chronic subinvolution of uterus, adhesions of uterus, cervix disorder, uterine polyp, pelvic congestion syndrome, uterine inversion, placenta disorder, hemometra, parametritis, cordiform uterus, septate uterus, bicornuate uterus, uterine hypoplasia, agenesis and aplasia of uterine body, florid cystic endosalpingiosis of the uterus, pregnancy, cornual

Subtypes (6): uterine benign neoplasm, uterine cancer, placenta neoplasm, uterine cervix neoplasm, endometrium neoplasm, corpus uteri neoplasm

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
484161	NM_024675.4(PALB2):c.1192del (p.Val398fs)	PALB2	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
PALB2	LoF	OVT	CIViC #15013

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PALB2	Orphanet:1333	Familial pancreatic carcinoma
PALB2	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
PALB2	Orphanet:178	Chordoma
PALB2	Orphanet:227535	Hereditary breast cancer
PALB2	Orphanet:84	Fanconi anemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PALB2	HGNC:26144	ENSG00000083093	Q86YC2	Partner and localizer of BRCA2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PALB2	Partner and localizer of BRCA2	Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

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
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PALB2	Scaffold/PPI	no		WD40/YVTN_repeat-like_dom_sf, PALB2_WD40, WD40_repeat_dom_sf

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PALB2	232	ubiquitous	yes	secondary oocyte, buccal mucosa cell, oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PALB2	5,641

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PALB2	Q86YC2	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Impaired BRCA2 binding to PALB2	1	456.8×	0.004	PALB2
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	1	423.0×	0.004	PALB2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	1	423.0×	0.004	PALB2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	1	423.0×	0.004	PALB2
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	1	393.8×	0.004	PALB2
Homologous DNA Pairing and Strand Exchange	1	380.7×	0.004	PALB2
Resolution of D-loop Structures through Holliday Junction Intermediates	1	300.5×	0.005	PALB2
HDR through Homologous Recombination (HRR)	1	190.3×	0.007	PALB2
KEAP1-NFE2L2 pathway	1	120.2×	0.009	PALB2
Neddylation	1	47.4×	0.021	PALB2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
inner cell mass cell proliferation	1	991.3×	0.005	PALB2
post-anal tail morphogenesis	1	732.7×	0.005	PALB2
mesoderm development	1	526.6×	0.005	PALB2
embryonic organ development	1	481.5×	0.005	PALB2
somitogenesis	1	374.5×	0.005	PALB2
animal organ morphogenesis	1	191.5×	0.009	PALB2
double-strand break repair via homologous recombination	1	156.0×	0.009	PALB2
multicellular organism growth	1	137.0×	0.009	PALB2
negative regulation of apoptotic process	1	34.8×	0.032	PALB2
apoptotic process	1	28.7×	0.035	PALB2

Therapeutics

Drugs indicated for this disease

0 approved, 5 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)
Filgrastim	Phase 3 (in late-stage trials)
Paclitaxel	Phase 3 (in late-stage trials)
Pegfilgrastim	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Afatinib, Enzalutamide, Fluorouracil, Gefitinib, Letrozole, Oxaliplatin, Ribociclib, Selumetinib, Topotecan.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PALB2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 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.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	PALB2

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)
PALB2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 52.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	31
PHASE2	13
PHASE1	3
PHASE1/PHASE2	2
PHASE4	1
PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00628901	PHASE4	COMPLETED	A Prospective Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE)
NCT00100191	PHASE3	COMPLETED	Emmy Trial: Uterine Artery Embolization (UAE) Versus Hysterectomy for Uterine Fibroids
NCT04579380	PHASE2	ACTIVE_NOT_RECRUITING	Basket Study of Tucatinib and Trastuzumab in Solid Tumors With HER2 Alterations
NCT00050440	PHASE2	COMPLETED	Phase 2 Study of ET-743 (Trabectedin) in Patients With Persistent or Recurrent Endometrial Carcinoma
NCT00087841	PHASE2	COMPLETED	Self-Hypnotic Relaxation Therapy During Invasive Procedures
NCT00188578	PHASE1/PHASE2	COMPLETED	Intensity Modulated Radiation Therapy - Gyne Cancer (GY03.2)
NCT00188695	PHASE1/PHASE2	COMPLETED	Combidex USPIO - Ultra-small Superparamagnetic Iron Oxide
NCT00190918	PHASE2	COMPLETED	A Trial for Patients With Gestational Trophoblastic Disease
NCT00190983	PHASE2	COMPLETED	A Trial for Patients With Advanced/Recurrent Cervical Cancer
NCT00231855	PHASE2	COMPLETED	Efficacy Study of Weekly Taxotere and Topotecan for Recurrent Gynecologic (GYN) Cancers
NCT00282087	PHASE2	COMPLETED	Adjuvant Chemotherapy for High Risk Uterine Leiomyosarcoma
NCT00377520	PHASE2	COMPLETED	A Trial for Patients With Advanced/Recurrent Endometrial Cancer
NCT00414076	PHASE2	TERMINATED	Letrozole Versus Observation in Patients With Newly Diagnosed Uterine Leiomyosarcoma
NCT00505492	PHASE2	TERMINATED	Malignant Mixed Mesodermal Tumor (MMMT) - Early Stage With Postoperative XRT/Chemotherapy
NCT00782041	PHASE2	TERMINATED	Patients Who Have Failed First Line Treatment for Locally Advanced and/or Metastatic Cervical Cancer
NCT02454036	PHASE2	COMPLETED	Biobehavioral Intervention in Gynecologic Oncology Patients
NCT03951415	PHASE2	UNKNOWN	Durvalumab and Olaparib in Metastatic or Recurrent Endometrial Cancer
NCT07038369	PHASE1	ACTIVE_NOT_RECRUITING	A Phase 1 Study of ATV-1601 in Patients With Advanced Cancer That Have AKT1 E17K Mutations
NCT00090389	PHASE1	COMPLETED	Acupuncture for Women’s Health Conditions
NCT00361036	PHASE1	COMPLETED	Comparison Study in the Treatment of Uterine Fibroids Uterine Fibroid Embolization Using BeadBlock™ Embolic Agent
NCT05289648	EARLY_PHASE1	WITHDRAWN	Niraparib in High-grade Endometrial Cancer Trial
NCT03624712	Not specified	RECRUITING	Analysis and Optimization of Predictive and Therapeutic Models in Uterine Neoplasms
NCT04061967	Not specified	RECRUITING	Research Project on Reminders and Self-Sampling Can Increase Participation in Gynecology Cell Sampling - Preventive Examination Against Cervical Cancer.
NCT05242861	Not specified	RECRUITING	Retrospective Study of Brachytherapy
NCT06741046	Not specified	ACTIVE_NOT_RECRUITING	RT for Cervical Adenocarcinoma/adenosquamous Carcinoma
NCT06774482	Not specified	RECRUITING	Evaluation of Toxicity and Outcomes of Different Therapeutic Strategies in Patients With Uterine Neoplasms
NCT06953076	Not specified	RECRUITING	Ultrasound Transformation of Myomas During Relugolix-Estradiol-Norethisterone Treatment: The MySaturn Study
NCT07264660	Not specified	NOT_YET_RECRUITING	Diagnostic Value of Transcervical True-Cut Biopsy in Uterine Masses
NCT07382505	Not specified	NOT_YET_RECRUITING	Prospective Cohort Study of Minimal Residual Disease(MRD) Testing for Early Recurrence Detection in Endometrial and Cervical Cancer
NCT07581288	Not specified	NOT_YET_RECRUITING	Measurement of Urinary Hormones in Patients With Abnormal Uterine Bleeding to Study Uterine Cancer Progression
NCT00112307	Not specified	COMPLETED	Magnetic Resonance Imaging Guided Gynecologic Brachytherapy
NCT00250770	Not specified	WITHDRAWN	Colony-Stimulating Factor-1 (CSF-1) and Other Cytokines in Human Endometrial Carcinogenesis
NCT00250783	Not specified	COMPLETED	Pre-Clinical Models in Gynecological Tumors A Tissue Repository
NCT00669422	Not specified	TERMINATED	ChemoFx® PRO - A Post-Market Data Collection Study
NCT01564264	Not specified	UNKNOWN	Sentinel Node Biopsy in Endometrial Cancer
NCT01654458	Not specified	COMPLETED	A Randomized Controlled Trial of an Online Support Group for Sexual Distress Due to Gynecologic Cancer
NCT01969396	Not specified	TERMINATED	Evaluation of the Goldstein SonoBiopsy™ Catheter for Diagnosing Endometrial Pathology
NCT01998854	Not specified	TERMINATED	Observational Prospective Study on Patients With Symptomatic Uterine Fibroids Treated With VizAblate® Intrauterine-ultrasound Guided RF Ablation
NCT02374411	Not specified	COMPLETED	Knowledge, Attitudes, and Practice of Surgeons Toward Nutrition Support in HIPEC Patients
NCT02444195	Not specified	COMPLETED	Guided Imagery in the Perioperative Period in Gynecologic Oncology Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEXAMETHASONE	4	1
NORETHINDRONE ACETATE	4	1
RELUGOLIX	4	1
TOPOTECAN	4	1
TRABECTEDIN	4	1
TUCATINIB	4	1
FOLINIC ACID	0	1