Ovarian serous surface papillary adenocarcinoma

Summary

Ovarian serous surface papillary adenocarcinoma (MONDO:0003874) is a disease with 2 cohort genes and 5 clinical trials. Top therapeutic interventions include olaparib, temsirolimus, and cediranib maleate.

At a glance

• Cohort genes: 2
• ClinVar variants: 2
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ovarian serous surface papillary adenocarcinoma
Mondo ID	MONDO:0003874
DOID	DOID:6408
NCIT	C6256
UMLS	C1335178
MedGen	233279
GARD	0023708
Anatomy (UBERON)	UBERON:0000992
Is cancer (heuristic)	no

Also known as: ovarian serous surface papillary adenocarcinoma · ovary papillary carcinoma · serous surface papillary carcinoma of the ovary

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › adenocarcinoma › papillary adenocarcinoma › ovarian serous surface papillary adenocarcinoma

Related subtypes (10): papillary eccrine carcinoma, breast papillary carcinoma, papillary thymic adenocarcinoma, fallopian tube papillary adenocarcinoma, gallbladder papillary neoplasm with an associated invasive carcinoma, papillary cystadenocarcinoma, thyroid gland papillary carcinoma, papillary lung adenocarcinoma, gastric papillary adenocarcinoma, papillary renal cell carcinoma

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

2 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
37534	NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)	BRCA1	Pathogenic	reviewed by expert panel
559990	NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)	BRCA2	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 21 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

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

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BRCA1	HGNC:1100	ENSG00000012048	P38398	Breast cancer type 1 susceptibility protein	clinvar
BRCA2	HGNC:1101	ENSG00000139618	P51587	Breast cancer type 2 susceptibility protein	clinvar

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.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

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

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)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
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

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

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BRCA1	9,064
BRCA2	4,839

Intra-cohort edges

A	B	Sources
BRCA1	BRCA2	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BRCA1	P38398	33
BRCA2	P51587	14

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 62. Enrichment computed across 2 evidence-associated genes (2 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 2 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	951.7×	3e-05	BRCA1, BRCA2
Diseases of DNA Double-Strand Break Repair	2	815.7×	3e-05	BRCA1, BRCA2
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	2	815.7×	3e-05	BRCA1, BRCA2
Resolution of D-Loop Structures	2	634.4×	4e-05	BRCA1, BRCA2
Diseases of DNA repair	2	571.0×	4e-05	BRCA1, BRCA2
Impaired BRCA2 binding to PALB2	2	456.8×	4e-05	BRCA1, BRCA2
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	2	423.0×	4e-05	BRCA1, BRCA2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	2	423.0×	4e-05	BRCA1, BRCA2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	2	423.0×	4e-05	BRCA1, BRCA2
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	2	393.8×	4e-05	BRCA1, BRCA2
Homologous DNA Pairing and Strand Exchange	2	380.7×	4e-05	BRCA1, BRCA2
Homology Directed Repair	2	308.6×	4e-05	BRCA1, BRCA2
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	2	308.6×	4e-05	BRCA1, BRCA2
Impaired BRCA2 binding to RAD51	2	308.6×	4e-05	BRCA1, BRCA2
Resolution of D-loop Structures through Holliday Junction Intermediates	2	300.5×	4e-05	BRCA1, BRCA2
Meiosis	2	285.5×	5e-05	BRCA1, BRCA2
Presynaptic phase of homologous DNA pairing and strand exchange	2	271.9×	5e-05	BRCA1, BRCA2
DNA Double-Strand Break Repair	2	248.3×	5e-05	BRCA1, BRCA2
Reproduction	2	190.3×	8e-05	BRCA1, BRCA2
HDR through Homologous Recombination (HRR)	2	190.3×	8e-05	BRCA1, BRCA2
Meiotic recombination	2	129.8×	2e-04	BRCA1, BRCA2
DNA Repair	2	98.5×	3e-04	BRCA1, BRCA2
Defective DNA double strand break response due to BRCA1 loss of function	1	2855.0×	9e-04	BRCA1
Defective DNA double strand break response due to BARD1 loss of function	1	2855.0×	9e-04	BRCA1
Impaired BRCA2 translocation to the nucleus	1	1903.3×	0.001	BRCA2
Impaired BRCA2 binding to SEM1 (DSS1)	1	1903.3×	0.001	BRCA2
Cell Cycle	2	36.0×	0.002	BRCA1, BRCA2
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	1	815.7×	0.003	BRCA1
HDR through MMEJ (alt-NHEJ)	1	439.2×	0.005	BRCA2
DNA Double Strand Break Response	1	237.9×	0.009	BRCA1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 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	1123.5×	5e-05	BRCA1, BRCA2
cellular response to ionizing radiation	2	411.0×	2e-04	BRCA1, BRCA2
double-strand break repair	2	203.0×	5e-04	BRCA1, BRCA2
double-strand break repair via homologous recombination	2	156.0×	7e-04	BRCA1, BRCA2
mitotic recombination-dependent replication fork processing	1	4213.0×	0.003	BRCA2
negative regulation of mammary gland epithelial cell proliferation	1	1685.2×	0.005	BRCA2
cellular response to indole-3-methanol	1	1685.2×	0.005	BRCA1
chordate embryonic development	1	1404.3×	0.006	BRCA1
negative regulation of centriole replication	1	1203.7×	0.006	BRCA1
establishment of protein localization to telomere	1	1053.2×	0.006	BRCA2
DNA strand resection involved in replication fork processing	1	1053.2×	0.006	BRCA1
DNA damage tolerance	1	842.6×	0.006	BRCA1
response to UV-C	1	842.6×	0.006	BRCA2
telomere maintenance via recombination	1	766.0×	0.006	BRCA2
positive regulation of DNA-templated transcription	2	27.9×	0.006	BRCA1, BRCA2
homologous recombination	1	702.2×	0.006	BRCA1
negative regulation of intracellular estrogen receptor signaling pathway	1	561.7×	0.006	BRCA1
negative regulation of gene expression via chromosomal CpG island methylation	1	526.6×	0.006	BRCA1
inner cell mass cell proliferation	1	495.6×	0.006	BRCA2
protein K6-linked ubiquitination	1	495.6×	0.006	BRCA1
centrosome duplication	1	468.1×	0.006	BRCA2
random inactivation of X chromosome	1	468.1×	0.006	BRCA1
negative regulation of reactive oxygen species metabolic process	1	468.1×	0.006	BRCA1
response to X-ray	1	443.5×	0.006	BRCA2
negative regulation of fatty acid biosynthetic process	1	443.5×	0.006	BRCA1
female gonad development	1	401.2×	0.006	BRCA2
mitotic G2/M transition checkpoint	1	401.2×	0.006	BRCA1
hematopoietic stem cell proliferation	1	324.1×	0.007	BRCA2
oocyte maturation	1	300.9×	0.007	BRCA2
male meiosis I	1	290.6×	0.007	BRCA2

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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

Top cohort targets by molecule count

Symbol	Molecules	Max phase
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
CURCUMIN	3	BRCA1
SURAMIN	3	BRCA1
SURAMIN HEXASODIUM	3	BRCA1
SODIUM TANSHINONE IIA SULFONATE	2	BRCA1
HOMIDIUM BROMIDE	2	BRCA1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
BRCA1	13	Binding:9, Functional:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
BRCA1	2.3.2.27	RING-type E3 ubiquitin transferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

12 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.

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
CURCUMIN	3	BRCA1
SURAMIN	3	BRCA1
SURAMIN HEXASODIUM	3	BRCA1
SODIUM TANSHINONE IIA SULFONATE	2	BRCA1
HOMIDIUM BROMIDE	2	BRCA1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	BRCA1
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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	3
PHASE1/PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01116648	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Cediranib Maleate and Olaparib in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Peritoneal Cancer or Recurrent Triple-Negative Breast Cancer
NCT02101775	PHASE2	ACTIVE_NOT_RECRUITING	Gemcitabine Hydrochloride With or Without WEE1 Inhibitor MK-1775 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer
NCT01010126	PHASE2	COMPLETED	Temsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer
NCT02283658	PHASE2	COMPLETED	Everolimus and Letrozole in Treating Patients With Recurrent Hormone Receptor Positive Ovarian, Fallopian Tube, or Primary Peritoneal Cavity Cancer
NCT00053235	Not specified	WITHDRAWN	Research Study in Patients With Advanced Ovarian Epithelial Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
OLAPARIB	4	1
TEMSIROLIMUS	4	1
CEDIRANIB MALEATE	3	1
ADAVOSERTIB	2	1