Ovarian mucinous adenocarcinoma

disease
On this page

Also known as mucinous adenocarcinoma of ovarymucinous adenocarcinoma of the ovarymucinous carcinoma of ovarymucinous carcinoma of the ovaryovarian mucinous carcinomaovary mucinous adenocarcinoma

Summary

Ovarian mucinous adenocarcinoma (MONDO:0005601) is a disease with 4 cohort genes (22 GWAS associations across 3 studies) and 22 clinical trials. Top therapeutic interventions include paclitaxel, bevacizumab, and topotecan hydrochloride.

At a glance

  • Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
  • Cohort genes: 4
  • GWAS associations: 22
  • Clinical trials: 22

Clinical features

Epidemiology

Prevalence records

24 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

TypeClassValueGeographyValidation
Annual incidence1-9 / 1 000 0000.85EuropeValidated
Annual incidence1-9 / 1 000 0000.497AustriaValidated
Annual incidence1-9 / 1 000 0000.883BelgiumValidated
Annual incidence1-9 / 1 000 0000.815CroatiaValidated
Annual incidence1-9 / 1 000 0000.995Czech RepublicValidated
Annual incidence1-9 / 1 000 0000.666GermanyValidated
Annual incidence1-9 / 1 000 0000.469IcelandValidated
Annual incidence1-9 / 1 000 0000.706IrelandValidated
Annual incidence1-9 / 1 000 0000.666ItalyValidated
Annual incidence1-9 / 1 000 0000.503LatviaValidated
Annual incidence1-9 / 1 000 0000.567LithuaniaValidated
Annual incidence1-9 / 1 000 0000.717NorwayValidated
Annual incidence1-9 / 1 000 0000.665PolandValidated
Annual incidence1-9 / 1 000 0000.49PortugalValidated
Annual incidence1-9 / 1 000 0000.945SlovakiaValidated
Annual incidence1-9 / 1 000 0000.601SloveniaValidated
Annual incidence1-9 / 1 000 0000.695SpainValidated
Annual incidence1-9 / 1 000 0000.563SwitzerlandValidated
Annual incidence1-9 / 1 000 0000.76NetherlandsValidated
Annual incidence1-9 / 1 000 0000.815United KingdomValidated

Identifiers

Disease identifiers

FieldValue
Canonical nameovarian mucinous adenocarcinoma
Mondo IDMONDO:0005601
EFOEFO:0006462
Orphanet398961
DOIDDOID:3606
ICD-11869438441
NCITC5243
UMLSC1335167
MedGen235418
GARD0021651
Anatomy (UBERON)UBERON:0000992
Is cancer (heuristic)no

Also known as: mucinous adenocarcinoma of ovary · mucinous adenocarcinoma of the ovary · mucinous carcinoma of ovary · mucinous carcinoma of the ovary · ovarian mucinous adenocarcinoma · ovarian mucinous carcinoma · ovary mucinous adenocarcinoma

Data availability: 22 GWAS associations (3 studies) · 32 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumorneoplastic disease or syndromeneoplasmcancercarcinomaadenocarcinomaovarian adenocarcinomaovarian mucinous adenocarcinoma

Related subtypes (6): ovarian cystadenocarcinoma, rete ovarii adenocarcinoma, Krukenberg carcinoma, ovarian serous adenocarcinoma, ovarian clear cell adenocarcinoma, ovarian endometrioid adenocarcinoma

Subtypes (1): ovarian mucinous cystadenocarcinoma

Genetics & variants

GWAS landscape

22 GWAS associations across 3 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr19:397387879e-28T0.69
rs6881871e-22IFNL3P1 - IFNL3A1.43
chr2:1770373119e-16G0.24
chr3:1388495438e-15C1.29
rs7118301e-14HOXD3, HAGLRA1.27
rs67557771e-13HAGLROS, HAGLRT1.26
rs1120718202e-13MRPS22GCCAG1.29
rs7525902e-12PAX8-AS1G1.3
chr2:1139793645e-12A1.31
rs3202032e-08ARL2BPP7 - RNU6-329PA1.29
rs728274803e-08INHBB - LINC01101C0.85
chr9:1049432261e-07A0.23
rs728318388e-07PAX8-AS1, PAX8?1.39
rs116517552e-06HNF1BT1.15
chr17:360998406e-06T0.13
rs64704946e-06CASC19, PCAT1C0.87
rs25949507e-06LINC01117C0.87

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90244172Dareng EO20242,587105,724Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
GCST004419Phelan CM20172,56640,941Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
GCST002967Kelemen LE20151,00321,693Genome-wide significant risk associations for mucinous ovarian carcinoma.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic16

MAF distribution

BucketVariants
common (>=0.05)17
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant8
unknown6
3_prime_UTR_variant1
non_coding_transcript_exon_variant1
intergenic_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr19:397387870.3079e-28Tier 4: intronic/intergenic
rs6881871939242112G>A0.313intron_variantIFNL3P1 - IFNL31e-22Tier 4: intronic/intergenic
chr2:1770373110.329e-16Tier 4: intronic/intergenic
chr3:1388495430.2888e-15Tier 4: intronic/intergenic
rs7118302176172583A>C,G,T0.3193_prime_UTR_variantHOXD3, HAGLR1e-14Tier 2: splice/UTR
rs67557772176178498T>A,G0.319non_coding_transcript_exon_variantHAGLROS, HAGLR1e-13Tier 4: intronic/intergenic
rs1120718203139130269G>GCCACATTCAGAAT,GCCAGATTCAGAAT0.283intron_variantMRPS222e-13Tier 4: intronic/intergenic
rs7525902113215368A>G0.211intron_variantPAX8-AS12e-12Tier 4: intronic/intergenic
chr2:1139793640.155e-12Tier 4: intronic/intergenic
rs3202039102180944C>A0.15intron_variantARL2BPP7 - RNU6-329P2e-08Tier 4: intronic/intergenic
rs728274802120388925T>A,C,G0.36intergenic_variantINHBB - LINC011013e-08Tier 4: intronic/intergenic
chr9:1049432260.1461e-07Tier 4: intronic/intergenic
rs728318382113258824C>G,T0.14intron_variantPAX8-AS1, PAX88e-07Tier 4: intronic/intergenic
rs116517551737739849T>C0.486intron_variantHNF1B2e-06Tier 4: intronic/intergenic
chr17:360998400.4846e-06Tier 4: intronic/intergenic
rs64704948127075659T>A,C,G0.31intron_variantCASC19, PCAT16e-06Tier 4: intronic/intergenic
rs25949502176643894G>C0.31intron_variantLINC011177e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
PAX8Orphanet:146Differentiated thyroid carcinoma
PAX8Orphanet:95712Thyroid ectopia
PAX8Orphanet:95713Athyreosis
PAX8Orphanet:95720Thyroid hypoplasia

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only4

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
IFNL3HGNC:18365ENSG00000197110Q8IZI9Interferon lambda-3gwas
IFNL4HGNC:44480ENSG00000272395K9M1U5Interferon lambda-4gwas
HOXD3HGNC:5137ENSG00000128652P31249Homeobox protein Hox-D3gwas
PAX8HGNC:8622ENSG00000125618Q06710Paired box protein Pax-8gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
IFNL3Interferon lambda-3Cytokine with antiviral, antitumour and immunomodulatory activities.
IFNL4Interferon lambda-4Cytokine that may trigger an antiviral response activating the JAK-STAT pathway and up-regulating specifically some interferon-stimulated genes.
HOXD3Homeobox protein Hox-D3Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
PAX8Paired box protein Pax-8Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

Protein-family classification

Druggable: 0 · Difficult: 2 · Unknown: 2 · 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.

FamilyGenesFoldFDR
Transcription factor24.1×0.149
Other/Unknown20.9×0.769

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
IFNL3Other/UnknownnoINF_lambda, IFN-lambda_sf
IFNL4Other/UnknownnoINF_lambda, IFN-lambda_sf
HOXD3Transcription factornoHD, Homeobox_Antennapedia_CS, Homeodomain-like_sf
PAX8Transcription factornoPaired_dom, Homeodomain-like_sf, Pax2_C

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)2
broad (>20)2
unknown0

Top tissues across cohort

TissueCohort genes
male germ line stem cell (sensu Vertebrata) in testis2
primordial germ cell in gonad2
granulocyte1
prefrontal cortex1
corpus epididymis1
germinal epithelium of ovary1
right uterine tube1
left lobe of thyroid gland1
right lobe of thyroid gland1
thyroid gland1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
IFNL315yesmale germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, granulocyte
IFNL418yesmale germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, prefrontal cortex
HOXD3169broadmarkercorpus epididymis, germinal epithelium of ovary, right uterine tube
PAX8242ubiquitousmarkerright lobe of thyroid gland, left lobe of thyroid gland, thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PAX81,994
HOXD3933
IFNL3810
IFNL41

Structural data

PDB: 3 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
IFNL3Q8IZI93
IFNL4K9M1U51
PAX8Q067101

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
HOXD3P3124958.01

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 4 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.

PathwayCohort genesFoldFDRSample cohort genes
Formation of intermediate mesoderm1475.8×0.008PAX8
Formation of the nephric duct1211.5×0.009PAX8
Interleukin-20 family signaling1141.0×0.009IFNL3
Activation of anterior HOX genes in hindbrain development during early embryogenesis130.4×0.032HOXD3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
type III interferon-mediated signaling pathway2766.0×1e-04IFNL3, IFNL4
thyroid gland development2271.8×4e-04HOXD3, PAX8
positive regulation of immune response2240.7×4e-04IFNL3, IFNL4
DNA-templated transcription2112.3×0.002HOXD3, PAX8
cellular response to virus2100.3×0.002IFNL3, IFNL4
regulation of thyroid-stimulating hormone secretion14213.0×0.002PAX8
pronephric field specification12106.5×0.002PAX8
metanephric comma-shaped body morphogenesis12106.5×0.002PAX8
obsolete negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis12106.5×0.002PAX8
obsolete negative regulation of apoptotic process involved in metanephric collecting duct development12106.5×0.002PAX8
obsolete negative regulation of apoptotic process involved in metanephric nephron tubule development12106.5×0.002PAX8
positive regulation of metanephric DCT cell differentiation12106.5×0.002PAX8
negative regulation of mesenchymal cell apoptotic process involved in metanephros development11404.3×0.003PAX8
glossopharyngeal nerve morphogenesis11053.2×0.003HOXD3
metanephric distal convoluted tubule development11053.2×0.003PAX8
metanephric S-shaped body morphogenesis11053.2×0.003PAX8
positive regulation of thyroid hormone generation11053.2×0.003PAX8
metanephric epithelium development1842.6×0.003PAX8
metanephric nephron tubule formation1842.6×0.003PAX8
regulation of metanephric nephron tubule epithelial cell differentiation1842.6×0.003PAX8
tyrosine phosphorylation of STAT protein1702.2×0.003IFNL4
cellular response to gonadotropin stimulus1702.2×0.003PAX8
otic vesicle development1702.2×0.003PAX8
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis1702.2×0.003PAX8
defense response to virus234.7×0.003IFNL3, IFNL4
pronephros development1601.9×0.003PAX8
mesenchymal to epithelial transition involved in metanephros morphogenesis1526.6×0.004PAX8
mesonephros development1383.0×0.005PAX8
urogenital system development1247.8×0.007PAX8
positive regulation of branching involved in ureteric bud morphogenesis1200.6×0.009PAX8

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 4 evidence-associated genes (25%) 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.

SymbolExample approved molecule
PAX8SORAFENIB TOSYLATE

Top cohort targets by molecule count

SymbolMoleculesMax phase
PAX8144
IFNL300
IFNL400
HOXD300

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
SORAFENIB TOSYLATE4PAX8
MITOXANTRONE HYDROCHLORIDE4PAX8
TEGASEROD MALEATE4PAX8
DAUNORUBICIN HYDROCHLORIDE4PAX8
DIGOXIN4PAX8
DOXORUBICIN HYDROCHLORIDE4PAX8
HEXACHLOROPHENE4PAX8
THIOGUANINE4PAX8
CHLORHEXIDINE4PAX8
VORINOSTAT4PAX8
ENPIROLINE2PAX8
PINAFIDE2PAX8
LANATOSIDE C2PAX8
IODOQUINOL2PAX8

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
PAX83Functional:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

SymbolCPIC guidelines
IFNL31

Chemical tractability of cohort targets

14 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
SORAFENIB TOSYLATE4PAX8
MITOXANTRONE HYDROCHLORIDE4PAX8
TEGASEROD MALEATE4PAX8
DAUNORUBICIN HYDROCHLORIDE4PAX8
DIGOXIN4PAX8
DOXORUBICIN HYDROCHLORIDE4PAX8
HEXACHLOROPHENE4PAX8
THIOGUANINE4PAX8
CHLORHEXIDINE4PAX8
VORINOSTAT4PAX8
ENPIROLINE2PAX8
PINAFIDE2PAX8
LANATOSIDE C2PAX8
IODOQUINOL2PAX8

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PAX8
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug3IFNL3, IFNL4, HOXD3

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
IFNL30
IFNL40
HOXD30

Clinical trials & evidence

Clinical trials

Clinical trials: 22.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE28
PHASE35
PHASE15
EARLY_PHASE12
PHASE1/PHASE21
Not specified1

Top trials by phase / activity

NCTPhaseStatusTitle
NCT01167712PHASE3ACTIVE_NOT_RECRUITINGPaclitaxel and Carboplatin With or Without Bevacizumab in Treating Patients With Stage II, Stage III, or Stage IV Ovarian Epithelial Cancer, Primary Peritoneal Cancer, or Fallopian Tube Cancer
NCT00108745PHASE3UNKNOWNPaclitaxel, Polyglutamate Paclitaxel, or Observation in Treating Patients With Stage III or Stage IV Ovarian Epithelial, Peritoneal Cancer, or Fallopian Tube Cancer
NCT00262847PHASE3COMPLETEDCarboplatin and Paclitaxel With or Without Bevacizumab in Treating Patients With Stage III or Stage IV Ovarian Epithelial, Primary Peritoneal, or Fallopian Tube Cancer
NCT00719303PHASE3UNKNOWNDiet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT00951496PHASE3COMPLETEDBevacizumab and Intravenous or Intraperitoneal Chemotherapy in Treating Patients With Stage II-III Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer
NCT02068794PHASE1/PHASE2ACTIVE_NOT_RECRUITINGMV-NIS Infected Mesenchymal Stem Cells in Treating Recurrent Ovarian, Primary Peritoneal or Fallopian Tube Cancer
NCT02834013PHASE2ACTIVE_NOT_RECRUITINGNivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT04739800PHASE2ACTIVE_NOT_RECRUITINGComparison of Standard of Care Treatment With a Triplet Combination of Targeted Immunotherapeutic Agents
NCT05500391PHASE2RECRUITINGAssessment of Compliance With Monitoring Conducted by a Physician in Person or by a Nurse in Remote Monitoring
NCT00888615PHASE2COMPLETEDElesclomol Sodium and Paclitaxel in Treating Patients With Recurrent or Persistent Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer
NCT01097746PHASE2COMPLETEDFirst-Line Treatment of Bevacizumab, Carboplatin, and Paclitaxel in Treating Participants With Stage III-IV Ovarian, Primary Peritoneal, and Fallopian Tube Cancer
NCT02364713PHASE2TERMINATEDMV-NIS or Investigator’s Choice Chemotherapy in Treating Patients With Ovarian, Fallopian, or Peritoneal Cancer
NCT02853318PHASE2COMPLETEDPembrolizumab, Bevacizumab, and Cyclophosphamide in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT02923739PHASE2TERMINATEDPaclitaxel and Bevacizumab With or Without Emactuzumab in Treating Patients With Platinum-Resistant Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT04092270PHASE1ACTIVE_NOT_RECRUITINGA Study Combining the Peposertib (M3814) Pill With Standard Chemotherapy in Patients With Ovarian Cancer With an Expansion in High Grade Serous Ovarian Cancer and Low Grade Serous Ovarian Cancer
NCT00989651PHASE1COMPLETEDCarboplatin, Paclitaxel, Bevacizumab, and Veliparib in Treating Patients With Newly Diagnosed Stage II-IV Ovarian Epithelial, Fallopian Tube, or Primary Peritoneal Cancer
NCT01074411PHASE1COMPLETEDIntraperitoneal Bortezomib and Carboplatin in Treating Patients With Persistent or Recurrent Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer
NCT02020707PHASE1COMPLETEDNab-Paclitaxel and Bevacizumab in Treating Patients With Unresectable Stage IV Melanoma or Gynecological Cancers
NCT05498597PHASE1UNKNOWNAMT-151 in Patients With Selected Advanced Solid Tumours
NCT05415709EARLY_PHASE1RECRUITINGHyperthermic Intraperitoneal Chemotherapy With Cisplatin During Surgery or Cisplatin Before Surgery for the Treatment of Stage III or IV Ovarian, Fallopian Tube or Peritoneal Cancer
NCT01504126EARLY_PHASE1COMPLETEDPropranolol Hydrochloride and Chemotherapy in Treating Patients With Ovarian, Primary Peritoneal, or Fallopian Tube Cancer
NCT03641287Not specifiedTERMINATEDThe Effects of Exercise on Distress, Quality of Life, and Biomarkers in Ovarian Cancer Survivors

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
PACLITAXEL411
BEVACIZUMAB41
TOPOTECAN HYDROCHLORIDE41
VELIPARIB32
CEDIRANIB MALEATE31
ELESCLOMOL31
EMACTUZUMAB31
PACLITAXEL POLIGLUMEX31
NEDISERTIB11
S-ROLIPRAM01