Primary peritoneal carcinoma

Summary

Primary peritoneal carcinoma (MONDO:0015686) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 408 clinical trials. Top therapeutic interventions include carboplatin, topotecan, and niraparib.

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide)
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 6
• Clinical trials: 408

Clinical features

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0002017	Nausea and vomiting	Very frequent (80-99%)
HP:0002019	Constipation	Very frequent (80-99%)
HP:0002027	Abdominal pain	Very frequent (80-99%)
HP:0002586	Peritonitis	Very frequent (80-99%)
HP:0002664	Neoplasm	Very frequent (80-99%)
HP:0003270	Abdominal distention	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	primary peritoneal carcinoma
Mondo ID	MONDO:0015686
Orphanet	168829
NCIT	C40022
UMLS	C1514428
MedGen	269516
GARD	0020103
Is cancer (heuristic)	yes

Also known as: EOPPC · Extra-ovarian primary peritoneal carcinoma · PPC · primary peritoneal cancer · primary peritoneal carcinoma · primary peritoneal carcinoma (disease) · primary peritoneal serous carcinoma · serous surface papillary carcinoma

Data availability: 1 ClinVar variant · 1 HPO phenotype · 24 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › peritoneum cancer › peritoneal carcinoma › primary peritoneal carcinoma

Related subtypes (2): peritoneal serous adenocarcinoma, pseudomyxoma peritonei

Subtypes (1): primary peritoneal serous adenocarcinoma

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 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1279934	NM_000249.4(MLH1):c.1570A>G (p.Met524Val)	MLH1	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
MLH1			CIViC #3532

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MLH1	Orphanet:144	Lynch syndrome
MLH1	Orphanet:252202	Constitutional mismatch repair deficiency syndrome

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
MLH1	HGNC:7127	ENSG00000076242	P40692	DNA mismatch repair protein Mlh1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MLH1	DNA mismatch repair protein Mlh1	Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR).

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MLH1	Other/Unknown	no		MutL/Mlh/PMS, DNA_mismatch_S5_2-like, Ribsml_uS5_D2-typ_fold_subgr

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
deltoid	1
skeletal muscle tissue of rectus abdominis	1
tibialis anterior	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MLH1	296	ubiquitous	marker	tibialis anterior, skeletal muscle tissue of rectus abdominis, deltoid

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MLH1	4,435

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MLH1	P40692	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. 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
Defective Mismatch Repair Associated With MLH1	1	5710.0×	0.002	MLH1
Defective Mismatch Repair Associated With PMS2	1	5710.0×	0.002	MLH1
Mismatch Repair	1	2855.0×	0.002	MLH1
Diseases of Mismatch Repair (MMR)	1	2855.0×	0.002	MLH1
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	1	815.7×	0.004	MLH1
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	1	815.7×	0.004	MLH1
Diseases of DNA repair	1	571.0×	0.005	MLH1
Meiosis	1	285.5×	0.008	MLH1
Reproduction	1	190.3×	0.010	MLH1
TP53 Regulates Transcription of DNA Repair Genes	1	181.3×	0.010	MLH1
Meiotic recombination	1	129.8×	0.013	MLH1
DNA Repair	1	98.5×	0.015	MLH1
Transcriptional Regulation by TP53	1	62.1×	0.022	MLH1
Cell Cycle	1	36.0×	0.036	MLH1
RNA Polymerase II Transcription	1	22.5×	0.053	MLH1
Gene expression (Transcription)	1	17.8×	0.063	MLH1
Generic Transcription Pathway	1	15.1×	0.070	MLH1
Disease	1	13.1×	0.076	MLH1

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
meiotic metaphase I homologous chromosome alignment	1	16852.0×	8e-04	MLH1
meiotic spindle midzone assembly	1	8426.0×	8e-04	MLH1
male meiosis chromosome segregation	1	5617.3×	8e-04	MLH1
negative regulation of mitotic recombination	1	5617.3×	8e-04	MLH1
female meiosis chromosome segregation	1	4213.0×	9e-04	MLH1
positive regulation of isotype switching to IgA isotypes	1	2808.7×	0.001	MLH1
meiotic telomere clustering	1	1872.4×	0.001	MLH1
positive regulation of isotype switching to IgG isotypes	1	1532.0×	0.002	MLH1
somatic hypermutation of immunoglobulin genes	1	1053.2×	0.002	MLH1
resolution of meiotic recombination intermediates	1	936.2×	0.002	MLH1
isotype switching	1	842.6×	0.002	MLH1
nuclear-transcribed mRNA poly(A) tail shortening	1	802.5×	0.002	MLH1
mismatch repair	1	648.1×	0.002	MLH1
homologous chromosome pairing at meiosis	1	601.9×	0.002	MLH1
double-strand break repair via nonhomologous end joining	1	421.3×	0.003	MLH1
oogenesis	1	383.0×	0.003	MLH1
intrinsic apoptotic signaling pathway in response to DNA damage	1	324.1×	0.003	MLH1
response to bacterium	1	193.7×	0.005	MLH1
spermatogenesis	1	35.2×	0.028	MLH1

Therapeutics

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
MLH1	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	MLH1

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)
MLH1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 408.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	156
PHASE1	101
Not specified	50
PHASE1/PHASE2	43
PHASE3	39
EARLY_PHASE1	12
PHASE2/PHASE3	6
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06972693	PHASE4	ACTIVE_NOT_RECRUITING	NGS-based Germline and Somatic Genetic Test in Ovarian Carcinoma
NCT00565851	PHASE3	ACTIVE_NOT_RECRUITING	Carboplatin, Paclitaxel and Gemcitabine Hydrochloride With or Without Bevacizumab After Surgery in Treating Patients With Recurrent Ovarian, Epithelial, Primary Peritoneal, or Fallopian Tube Cancer
NCT01167712	PHASE3	ACTIVE_NOT_RECRUITING	Paclitaxel 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
NCT02446600	PHASE3	ACTIVE_NOT_RECRUITING	Testing the Use of A Single Drug (Olaparib) or the Combination of Two Drugs (Cediranib and Olaparib) Compared to the Usual Chemotherapy for Women With Platinum Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT02502266	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Testing the Combination of Cediranib and Olaparib in Comparison to Each Drug Alone or Other Chemotherapy in Recurrent Platinum-Resistant Ovarian Cancer
NCT02839707	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Pegylated Liposomal Doxorubicin Hydrochloride With Atezolizumab and/or Bevacizumab in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT02859038	PHASE3	ACTIVE_NOT_RECRUITING	Study of Upfront Surgery Versus Neoadjuvant Chemotherapy in Patients With Advanced Ovarian Cancer (SUNNY)
NCT04095364	PHASE3	ACTIVE_NOT_RECRUITING	Letrozole With or Without Paclitaxel and Carboplatin in Treating Patients With Stage II-IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT04515602	PHASE3	NOT_YET_RECRUITING	Stratified Evaluation of PDS and NACT-IDS in Ovarian Cancer (FOCUS)
NCT04575935	PHASE3	RECRUITING	Minimally Invasive Surgery After Neoadjuvant Chemotherapy for the Treatment of Stage IIIC-IV Ovarian, Primary Peritoneal, or Fallopian Tube Cancer, LANCE Trial
NCT05281471	PHASE3	RECRUITING	Efficacy & Safety of Olvi-Vec and Platinum-doublet + Bevacizumab Compared to Physician’s Choice of Chemotherapy and Bevacizumab in Platinum-Resistant/Refractory Ovarian Cancer (PRROC) (OnPrime, GOG-3076)
NCT05659381	PHASE3	RECRUITING	Heated Intraperitoneal Chemotherapy Followed by Niraparib for Ovarian, Primary Peritoneal and Fallopian Tube Cancer
NCT05737303	PHASE3	RECRUITING	Nab-paclitaxel Versus Sb-taxanes As First-Line Treatment in Advanced Ovarian Cancer
NCT06824467	PHASE3	RECRUITING	A Study to Evaluate the Efficacy and Safety of Sacituzumab Tirumotecan (MK-2870) Maintenance Treatment Versus Standard of Care in Participants With Platinum-sensitive Recurrent Ovarian Cancer (MK-2870-022/TroFuse-022/ENGOT-ov84/GOG-3103)
NCT06915025	PHASE3	RECRUITING	Phase 3 Trial Evaluating the Safety & Efficacy of IMNN-001 Administered in Combination w/ Standard NACT & Adjuvant Chemotherapy in Newly Diagnosed Patients w/ Advanced EOC, Fallopian Tube or Primary Peritoneal Cancer
NCT06994195	PHASE3	RECRUITING	A Study Comparing BL-B01D1 With the Investigator’s Choice of Chemotherapy in Patients With Platinum-resistant Recurrent Epithelial Ovarian Cancer(PANKU-GYN01)
NCT07472140	PHASE2/PHASE3	RECRUITING	PARP (Poly (ADP-ribose) Polymerase) Inhibitor With or Without Angiogenesis Inhibitor in Homologous Recombination Deficient Primary Ovarian Cancer, Fallopian-Tube Cancer, or Primary Peritoneal Cancer
NCT07545460	PHASE3	NOT_YET_RECRUITING	A Study Comparing BL-M07D1 With Physician’s Choice of Chemotherapy in Patients With HER2-Expressing Platinum-Resistant Recurrent Epithelial Ovarian Cancer, Fallopian Tube Cancer, and Primary Peritoneal Cancer
NCT00011986	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III or Stage IV Ovarian Epithelial Cancer or Primary Peritoneal Cancer
NCT00108745	PHASE3	UNKNOWN	Paclitaxel, Polyglutamate Paclitaxel, or Observation in Treating Patients With Stage III or Stage IV Ovarian Epithelial, Peritoneal Cancer, or Fallopian Tube Cancer
NCT00226915	PHASE3	COMPLETED	Trial of Tri-weekly TJ Versus Weekly TJ for Stage II-IV Mullerian Carcinoma
NCT00262847	PHASE3	COMPLETED	Carboplatin and Paclitaxel With or Without Bevacizumab in Treating Patients With Stage III or Stage IV Ovarian Epithelial, Primary Peritoneal, or Fallopian Tube Cancer
NCT00719303	PHASE3	UNKNOWN	Diet 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
NCT00951496	PHASE3	COMPLETED	Bevacizumab and Intravenous or Intraperitoneal Chemotherapy in Treating Patients With Stage II-III Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cancer
NCT00954174	PHASE3	UNKNOWN	Paclitaxel and Carboplatin or Ifosfamide in Treating Patients With Newly Diagnosed, Persistent or Recurrent Uterine, Ovarian, Fallopian Tube, or Peritoneal Cavity Cancer
NCT00989131	PHASE3	COMPLETED	Study of Paclitaxel in Patients With Ovarian Cancer
NCT01196741	PHASE2/PHASE3	COMPLETED	Saracatinib and Paclitaxel in Platinum-resistant Ovarian Cancer
NCT01204749	PHASE3	COMPLETED	TRINOVA-1: A Study of AMG 386 or Placebo, in Combination With Weekly Paclitaxel Chemotherapy, as Treatment for Ovarian Cancer, Primary Peritoneal Cancer and Fallopian Tube Cancer
NCT01281254	PHASE3	TERMINATED	AMG 386 (Trebananib) in Ovarian Cancer (TRINOVA-2)
NCT01492920	PHASE3	WITHDRAWN	Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy
NCT01506856	PHASE2/PHASE3	COMPLETED	Intraperitoneal Therapy For Ovarian Cancer With Carboplatin Trial
NCT01611766	PHASE3	UNKNOWN	Surgery or Chemotherapy in Recurrent Ovarian Cancer (SOC 1 Trial)?
NCT02311907	PHASE3	COMPLETED	Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer
NCT02328716	PHASE3	UNKNOWN	Cytoreduction With or Without Intraoperative Intraperitoneal Hyperthermic Chemotherapy (HIPEC) in Patients With Peritoneal Carcinomatosis From Ovarian Cancer, Fallopian Tube or Primary Peritoneal Carcinoma
NCT02584478	PHASE3	UNKNOWN	Phase 1/2a/3 Evaluation of Adding AL3818 to Standard Platinum-Based Chemotherapy in Subjects With Recurrent or Metastatic Endometrial, Ovarian, Fallopian, Primary Peritoneal or Cervical Carcinoma (AL3818-US-002)
NCT02631876	PHASE3	COMPLETED	A Study of Mirvetuximab Soravtansine vs. Investigator’s Choice of Chemotherapy in Women With Folate Receptor (FR) Alpha Positive Advanced Epithelial Ovarian Cancer (EOC), Primary Peritoneal or Fallopian Tube Cancer
NCT03180177	PHASE3	UNKNOWN	Efficacy of HIPEC as NACT and Postoperative Chemotherapy in the Treatment of Advanced-Stage Epithelial Ovarian Cancer
NCT03373058	PHASE3	UNKNOWN	Efficacy of HIPEC in the Treatment of Advanced-Stage Epithelial Ovarian Cancer After Cytoreductive Surgery
NCT03635489	PHASE3	COMPLETED	A Study of the Efficacy and Safety of Bevacizumab in Chinese Women With Newly Diagnosed, Previously Untreated Stage III or Stage IV Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
NCT04201561	PHASE3	UNKNOWN	High Dose Inorganic Selenium for Preventing Chemotherapy Induced Peripheral Neuropathy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CARBOPLATIN	4	66
TOPOTECAN	4	21
NIRAPARIB	4	9
MIRVETUXIMAB SORAVTANSINE	4	7
SELUMETINIB	4	6
SORAFENIB	4	6
OLAPARIB	4	5
CABOZANTINIB S-MALATE	4	3
GEMCITABINE HYDROCHLORIDE	4	3
RUCAPARIB	4	3
DASATINIB ANHYDROUS	4	2
PAZOPANIB	4	2
ATEZOLIZUMAB	4	1
BELINOSTAT	4	1
BEVACIZUMAB	4	1
IFOSFAMIDE	4	1
IMIQUIMOD	4	1
PACLITAXEL	4	1
PEGFILGRASTIM	4	1
RAMUCIRUMAB	4	1
TEMSIROLIMUS	4	1
VELIPARIB	3	18
CEDIRANIB	3	5
FLUZOPARIB	3	3
PACLITAXEL POLIGLUMEX	3	3
RIVOCERANIB	3	2
ACETYLCARNITINE	3	1
CAROTUXIMAB	3	1
CATEQUENTINIB	3	1
ELESCLOMOL	3	1