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Atlas / Disease / Uterine corpus cancer

Uterine corpus cancer

disease
On this page

Also known as body of uterus cancercancer of body of uteruscancer of the corpus utericorpus uteri cancermalignant body of uterus neoplasmmalignant neoplasm of body of uterusuterine (including endometrial) cancer

Summary

Uterine corpus cancer (MONDO:0006003) is a cancer (an umbrella term covering 12 Mondo subtypes) with 10 cohort genes (10 CIViC-evidence somatic drivers; 15 ClinVar predisposition records) and 73 clinical trials. The dominant Reactome pathway is Impaired BRCA2 binding to PALB2 (6 cohort genes). Top therapeutic interventions include cisplatin, capivasertib, and filgrastim.

At a glance

  • Classification: Cancer
  • Umbrella term: 12 Mondo subtypes
  • Cohort genes: 10
  • ClinVar variants: 15
  • Clinical trials: 73

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameuterine corpus cancer
Mondo IDMONDO:0006003
EFOEFO:0007532
DOIDDOID:9460
NCITC61574
SNOMED CT371972005
Anatomy (UBERON)UBERON:0009853
Is cancer (heuristic)yes

Also known as: body of uterus cancer · cancer of body of uterus · cancer of the corpus uteri · corpus uteri cancer · malignant body of uterus neoplasm · malignant neoplasm of body of uterus · uterine (including endometrial) cancer · uterine corpus cancer

Data availability: 15 ClinVar variants.

Disease family

An umbrella term covering 12 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 › uterine corpus cancer

Related subtypes (6): uterine adnexa cancer, placenta cancer, cervical cancer, uterine carcinoma, uterine carcinosarcoma, endometrial cancer

Subtypes (12): uterine corpus endometrial carcinoma, uterine body mixed cancer, uterine corpus sarcoma, endometrial serous adenocarcinoma, squamous cell carcinoma of the corpus uteri, undifferentiated carcinoma of the corpus uteri, papillary carcinoma of the corpus uteri, high-grade neuroendocrine carcinoma of the corpus uteri, low-grade neuroendocrine tumor of the corpus uteri, adenoid cystic carcinoma of the corpus uteri, transitional cell carcinoma of the corpus uteri, malignant germ cell tumor of corpus uteri

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

15 retrieved; paginated sample, class counts are floors:

7 pathogenic, 6 pathogenic/likely pathogenic, 2 likely pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
142700NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)ATMPathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
55608NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)BRCA1Pathogenicreviewed by expert panel
38125NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)BRCA2Pathogenicreviewed by expert panel
9322NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)BRCA2Pathogenicreviewed by expert panel
9342NM_000059.4(BRCA2):c.658_659del (p.Val220fs)BRCA2Pathogenicreviewed by expert panel
128166NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)BRIP1Pathogeniccriteria provided, multiple submitters, no conflicts
232048NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)CHEK2Pathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
90743NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)MSH2Pathogenicreviewed by expert panel
90761NM_000251.3(MSH2):c.1720del (p.Gln574fs)MSH2Pathogenicreviewed by expert panel
410494NM_000179.3(MSH6):c.741dup (p.Arg248fs)MSH6Pathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
428433NM_000179.3(MSH6):c.2759del (p.Lys920fs)MSH6Pathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
632930NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)PALB2Pathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
128201NM_058216.3(RAD51C):c.1026+5_1026+7delRAD51CPathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
2430176NM_000251.2(MSH2):c.2459-2_2472delMSH2Likely pathogenicno assertion criteria provided
185713NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)PTENLikely pathogenicreviewed by expert panel

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 61 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
BRCA1LoFBLCA,BRCA,MEL,OVTCIViC #6
BRCA2LoFBLCA,BRCA,CESC,CHOL,HCC,HNSC,LUSC,MBL,OVT,PAAD,PRAD,PROSTATE,RCC,VULVACIViC #7
CHEK2ActBRCACIViC #8950
BRIP1CIViC #15955
PALB2LoFOVTCIViC #15013
MSH2CIViC #3628
MSH6CIViC #2478
ATMLoFBLCA,BRCA,CCRCC,CHOL,CLLSLL,COAD,COADREAD,ESCA,HCC,LUAD,LUSC,MEL,NSCLC,PAAD,PANCREAS,PANET,PCM,PLMESO,PRAD,PROSTATE,STAD,UCEC,UTUC,WDTCCIViC #69
PTENLoFANGS,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,COADREAD,CSCC,ESCA,GB,GBM,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LUAD,LUSC,MBL,MEL,MT,NSCLC,OVT,PANET,PAST,PRAD,PRCC,PROSTATE,RCC,SCLC,SKCM,SOFT_TISSUE,STAD,UCEC,UCS,WDTCCIViC #41
RAD51CCIViC #4762

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
BRCA1Orphanet:1331Familial prostate cancer
BRCA1Orphanet:1333Familial pancreatic carcinoma
BRCA1Orphanet:145Hereditary breast and/or ovarian cancer syndrome
BRCA1Orphanet:168829Primary peritoneal carcinoma
BRCA1Orphanet:227535Hereditary breast cancer
BRCA1Orphanet:667662Breast implant-associated anaplastic large cell lymphoma
BRCA1Orphanet:694963Inflammatory breast cancer
BRCA1Orphanet:70567Cholangiocarcinoma
BRCA1Orphanet:84Fanconi anemia
BRCA2Orphanet:1331Familial prostate cancer
BRCA2Orphanet:1333Familial pancreatic carcinoma
BRCA2Orphanet:145Hereditary breast and/or ovarian cancer syndrome
BRCA2Orphanet:178Chordoma
BRCA2Orphanet:227535Hereditary breast cancer
BRCA2Orphanet:319462Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BRCA2Orphanet:440437Familial colorectal cancer Type X
BRCA2Orphanet:654Nephroblastoma
BRCA2Orphanet:667662Breast implant-associated anaplastic large cell lymphoma
BRCA2Orphanet:694963Inflammatory breast cancer
BRCA2Orphanet:70567Cholangiocarcinoma
BRCA2Orphanet:84Fanconi anemia
CHEK2Orphanet:1331Familial prostate cancer
CHEK2Orphanet:145Hereditary breast and/or ovarian cancer syndrome
CHEK2Orphanet:440437Familial colorectal cancer Type X
CHEK2Orphanet:524Li-Fraumeni syndrome
CHEK2Orphanet:668Osteosarcoma
BRIP1Orphanet:145Hereditary breast and/or ovarian cancer syndrome
BRIP1Orphanet:84Fanconi anemia
PALB2Orphanet:1333Familial pancreatic carcinoma
PALB2Orphanet:145Hereditary breast and/or ovarian cancer syndrome
PALB2Orphanet:178Chordoma
PALB2Orphanet:227535Hereditary breast cancer
PALB2Orphanet:84Fanconi anemia
MSH2Orphanet:144Lynch syndrome
MSH2Orphanet:252202Constitutional mismatch repair deficiency syndrome
MSH6Orphanet:144Lynch syndrome
MSH6Orphanet:252202Constitutional mismatch repair deficiency syndrome
ATMOrphanet:100Ataxia-telangiectasia
ATMOrphanet:1331Familial prostate cancer
ATMOrphanet:145Hereditary breast and/or ovarian cancer syndrome
ATMOrphanet:227535Hereditary breast cancer
ATMOrphanet:370109Ataxia-telangiectasia variant
ATMOrphanet:440437Familial colorectal cancer Type X
ATMOrphanet:52416Mantle cell lymphoma
ATMOrphanet:67038B-cell chronic lymphocytic leukemia
PTENOrphanet:109Bannayan-Riley-Ruvalcaba syndrome
PTENOrphanet:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
PTENOrphanet:145Hereditary breast and/or ovarian cancer syndrome
PTENOrphanet:201Cowden syndrome
PTENOrphanet:210548Macrocephaly-intellectual disability-autism syndrome

Cohort genes → proteins

10 cohort genes, 10 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence10

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
BRCA1HGNC:1100ENSG00000012048P38398Breast cancer type 1 susceptibility proteinclinvar
BRCA2HGNC:1101ENSG00000139618P51587Breast cancer type 2 susceptibility proteinclinvar
CHEK2HGNC:16627ENSG00000183765O96017Serine/threonine-protein kinase Chk2clinvar
BRIP1HGNC:20473ENSG00000136492Q9BX63Fanconi anemia group J proteinclinvar
PALB2HGNC:26144ENSG00000083093Q86YC2Partner and localizer of BRCA2clinvar
MSH2HGNC:7325ENSG00000095002P43246DNA mismatch repair protein Msh2clinvar
MSH6HGNC:7329ENSG00000116062P52701DNA mismatch repair protein Msh6clinvar
ATMHGNC:795ENSG00000149311Q13315Serine-protein kinase ATMclinvar
PTENHGNC:9588ENSG00000171862P60484Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENclinvar
RAD51CHGNC:9820ENSG00000108384O43502DNA repair protein RAD51 homolog 3clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
BRCA1Breast cancer type 1 susceptibility proteinE3 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.
BRCA2Breast cancer type 2 susceptibility proteinInvolved in double-strand break repair and/or homologous recombination.
CHEK2Serine/threonine-protein kinase Chk2Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks.
BRIP1Fanconi anemia group J proteinDNA-dependent ATPase and 5’-3’ DNA helicase required for the maintenance of chromosomal stability.
PALB2Partner and localizer of BRCA2Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks.
MSH2DNA mismatch repair protein Msh2Component of the post-replicative DNA mismatch repair system (MMR).
MSH6DNA mismatch repair protein Msh6Component of the post-replicative DNA mismatch repair system (MMR).
ATMSerine-protein kinase ATMSerine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor.
PTENPhosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENDual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins.
RAD51CDNA repair protein RAD51 homolog 3Essential for the homologous recombination (HR) pathway of DNA repair.

Protein-family classification

Druggable: 4 · Difficult: 2 · Unknown: 4 · Druggable fraction: 0.4

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
Kinase25.5×0.290
Phosphatase18.4×0.339
Scaffold/PPI11.7×0.870
Enzyme (other)11.2×0.870
Transcription factor10.8×0.870
Other/Unknown40.7×0.907

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
BRCA1Transcription factorno2.3.2.27BRCT_dom, Znf_RING, BRCA1
BRCA2Other/UnknownnoBRCA2_repeat, NA-bd_OB-fold, BRCA2_OB_1
CHEK2Kinaseyes2.7.11.1FHA_dom, Prot_kinase_dom, Ser/Thr_kinase_AS
BRIP1Enzyme (other)yes3.6.4.12Helicase-like_DEXD_c2, ATP-dep_Helicase_C, RAD3-like_helicase_DEAD
PALB2Scaffold/PPInoWD40/YVTN_repeat-like_dom_sf, PALB2_WD40, WD40_repeat_dom_sf
MSH2Other/UnknownnoDNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N, DNA_mismatch_repair_MutS_core
MSH6Other/UnknownnoPWWP_dom, DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N
ATMKinaseyes2.7.11.1PI3/4_kinase_cat_dom, PIK-rel_kinase_FAT, FATC_dom
PTENPhosphataseyes3.1.3.16Tyr_Pase_dom, Tyr_Pase_cat, Tensin_C2-dom
RAD51COther/UnknownnoRad51_C, DNA_recomb/repair_RecA-like, RecA_ATP-bd

Expression context

Cohort genes with no expression data: 0.

9 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)0
broad (>20)10
unknown0

Top tissues across cohort

TissueCohort genes
male germ line stem cell (sensu Vertebrata) in testis5
ventricular zone5
primordial germ cell in gonad4
secondary oocyte3
oocyte2
calcaneal tendon2
lower esophagus mucosa1
buccal mucosa cell1
embryo1
ganglionic eminence1
colonic epithelium1
corpus callosum1
endothelial cell1
sperm1
right testis1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
BRCA1208ubiquitousmarkerventricular zone, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
BRCA2184ubiquitousmarkermale germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, ventricular zone
CHEK2183ubiquitousmarkerprimordial germ cell in gonad, lower esophagus mucosa, male germ line stem cell (sensu Vertebrata) in testis
BRIP1181ubiquitousmarkerventricular zone, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis
PALB2232ubiquitousyessecondary oocyte, buccal mucosa cell, oocyte
MSH2278ubiquitousmarkersecondary oocyte, oocyte, ventricular zone
MSH6293ubiquitousmarkerventricular zone, embryo, ganglionic eminence
ATM286ubiquitousmarkercalcaneal tendon, colonic epithelium, corpus callosum
PTEN256ubiquitousmarkersperm, endothelial cell, calcaneal tendon
RAD51C281ubiquitousmarkerprimordial germ cell in gonad, right testis, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 23.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PTEN11,626
BRCA19,064
ATM7,383
PALB25,641
BRCA24,839
CHEK24,795
MSH24,537
MSH64,091
RAD51C3,396
BRIP12,272

Intra-cohort edges

ABSources
ATMBRCA1string_interaction
ATMBRCA2string_interaction
ATMCHEK2string_interaction
ATMMSH2string_interaction
ATMMSH6string_interaction
BRCA1BRCA2string_interaction
BRCA1BRIP1biogrid_interaction, intact, string_interaction
BRCA1CHEK2string_interaction
BRCA1MSH2string_interaction
BRCA1MSH6string_interaction
BRCA1PALB2biogrid_interaction, intact, string_interaction
BRCA1RAD51Cstring_interaction
BRCA2BRIP1string_interaction
BRCA2CHEK2string_interaction
BRCA2MSH2string_interaction
BRCA2MSH6string_interaction
BRCA2PALB2biogrid_interaction, intact, string_interaction
BRCA2RAD51Cbiogrid_interaction, string_interaction
BRIP1PALB2string_interaction
CHEK2MSH6string_interaction
CHEK2PALB2string_interaction
MSH2MSH6biogrid_interaction, intact, string_interaction
PALB2RAD51Cbiogrid_interaction, intact, string_interaction

Structural data

PDB: 10 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
CHEK2O9601738
BRCA1P3839833
MSH2P4324630
RAD51CO4350217
BRCA2P5158714
ATMQ1331514
PTENP6048412
MSH6P527018
PALB2Q86YC24
BRIP1Q9BX633

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 106. Enrichment computed across 10 evidence-associated genes (10 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 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Impaired BRCA2 binding to PALB26274.1×5e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Defective homologous recombination repair (HRR) due to BRCA1 loss of function6253.8×5e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function6253.8×5e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function6253.8×5e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)6236.3×7e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Homologous DNA Pairing and Strand Exchange6228.4×7e-13BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Resolution of D-loop Structures through Holliday Junction Intermediates6180.3×3e-12BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Diseases of DNA repair5285.5×3e-11BRCA1, BRCA2, MSH2, MSH6, ATM
HDR through Homologous Recombination (HRR)6114.2×4e-11BRCA1, BRCA2, BRIP1, PALB2, ATM, RAD51C
Presynaptic phase of homologous DNA pairing and strand exchange5135.9×1e-09BRCA1, BRCA2, BRIP1, ATM, RAD51C
Impaired BRCA2 binding to RAD514123.5×2e-07BRCA1, BRCA2, BRIP1, ATM
DNA Repair549.2×2e-07BRCA1, BRCA2, MSH2, MSH6, ATM
Defective homologous recombination repair (HRR) due to PALB2 loss of function3285.5×9e-07BRCA1, BRCA2, ATM
Diseases of DNA Double-Strand Break Repair3244.7×1e-06BRCA1, BRCA2, ATM
Defective homologous recombination repair (HRR) due to BRCA2 loss of function3244.7×1e-06BRCA1, BRCA2, ATM
Resolution of D-Loop Structures3190.3×3e-06BRCA1, BRCA2, ATM
Defective Mismatch Repair Associated With MSH621142.0×4e-06MSH2, MSH6
Meiotic recombination451.9×4e-06BRCA1, BRCA2, ATM, RAD51C
G2/M DNA damage checkpoint448.1×5e-06BRCA1, CHEK2, BRIP1, ATM
Regulation of TP53 Activity through Phosphorylation447.1×5e-06BRCA1, CHEK2, BRIP1, ATM
Defective Mismatch Repair Associated With MSH22761.3×1e-05MSH2, MSH6
Homology Directed Repair392.6×2e-05BRCA1, BRCA2, ATM
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)392.6×2e-05BRCA1, BRCA2, ATM
Mismatch Repair2571.0×2e-05MSH2, MSH6
Diseases of Mismatch Repair (MMR)2571.0×2e-05MSH2, MSH6
HDR through Single Strand Annealing (SSA)387.8×2e-05BRCA1, BRIP1, ATM
Meiosis385.7×2e-05BRCA1, BRCA2, ATM
DNA Double-Strand Break Repair374.5×3e-05BRCA1, BRCA2, ATM
Reproduction357.1×6e-05BRCA1, BRCA2, ATM
TP53 Regulates Transcription of DNA Repair Genes354.4×7e-05BRCA1, MSH2, ATM

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
double-strand break repair6121.8×6e-10BRCA1, BRCA2, CHEK2, BRIP1, MSH2, ATM
double-strand break repair via homologous recombination578.0×3e-07BRCA1, BRCA2, PALB2, ATM, RAD51C
intrinsic apoptotic signaling pathway in response to DNA damage4129.6×1e-06BRCA1, CHEK2, MSH6, ATM
DNA repair531.9×1e-05BRCA1, BRIP1, MSH2, MSH6, RAD51C
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator3148.7×4e-05BRCA2, CHEK2, MSH2
determination of adult lifespan3129.6×5e-05MSH2, MSH6, ATM
somatic recombination of immunoglobulin gene segments2842.6×5e-05MSH2, MSH6
DNA damage checkpoint signaling3117.6×5e-05CHEK2, BRIP1, ATM
DNA damage response, signal transduction by p53 class mediator3107.6×6e-05BRCA2, CHEK2, ATM
DNA damage tolerance2337.0×3e-04BRCA1, MSH2
telomere maintenance via recombination2306.4×4e-04BRCA2, RAD51C
homologous recombination2280.9×4e-04BRCA1, BRIP1
negative regulation of DNA recombination2224.7×5e-04MSH2, MSH6
regulation of DNA damage checkpoint2224.7×5e-04BRCA1, BRCA2
regulation of autophagosome assembly2224.7×5e-04CHEK2, ATM
somatic hypermutation of immunoglobulin genes2210.7×5e-04MSH2, MSH6
inner cell mass cell proliferation2198.3×5e-04BRCA2, PALB2
replicative senescence2198.3×5e-04CHEK2, ATM
mitotic intra-S DNA damage checkpoint signaling2187.2×6e-04CHEK2, MSH2
response to X-ray2177.4×6e-04BRCA2, MSH2
cellular response to stress2168.5×6e-04CHEK2, ATM
isotype switching2168.5×6e-04MSH2, MSH6
signal transduction in response to DNA damage2160.5×7e-04CHEK2, ATM
mismatch repair2129.6×1e-03MSH2, MSH6
cellular response to gamma radiation2120.4×0.001CHEK2, ATM
male meiosis I2116.2×0.001BRCA2, RAD51C
reciprocal meiotic recombination2112.3×0.001ATM, RAD51C
mitotic G2 DNA damage checkpoint signaling288.7×0.002BRCA1, ATM
response to ionizing radiation282.2×0.002BRCA1, ATM
cellular response to ionizing radiation282.2×0.002BRCA1, BRCA2

Therapeutics

Drugs indicated for this disease

1 approved, 7 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
PembrolizumabApproved (phase 4)
AtezolizumabPhase 3 (in late-stage trials)
CarboplatinPhase 3 (in late-stage trials)
CisplatinPhase 3 (in late-stage trials)
FilgrastimPhase 3 (in late-stage trials)
Megestrol AcetatePhase 3 (in late-stage trials)
PaclitaxelPhase 3 (in late-stage trials)
PegfilgrastimPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bevacizumab, Copanlisib, Enzalutamide, Fulvestrant, Nivolumab, Temsirolimus, Trastuzumab.

Drug target analysis

Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 4 · Undrugged: 6

Druggability breadth: 6 of 10 evidence-associated genes (60%) 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
BRCA1RIBOFLAVIN
CHEK2NERATINIB
ATMAMIODARONE HYDROCHLORIDE

Top cohort targets by molecule count

SymbolMoleculesMax phase
ATM354
CHEK2304
BRCA1124
MSH612
BRCA200
BRIP100
PALB200
MSH200
PTEN00
RAD51C00

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
RIBOFLAVIN4BRCA1
DAUNORUBICIN HYDROCHLORIDE4BRCA1
TOPOTECAN HYDROCHLORIDE4BRCA1
DAUNORUBICIN4BRCA1
DOXORUBICIN HYDROCHLORIDE4BRCA1
MESALAMINE4BRCA1
DIPYRIDAMOLE4ATM, BRCA1
NERATINIB4CHEK2
BOSUTINIB4CHEK2
BRIGATINIB4CHEK2
SUNITINIB4CHEK2
GEFITINIB4CHEK2
AMIODARONE HYDROCHLORIDE4ATM
FURAZOLIDONE4ATM
ESTRADIOL ACETATE4ATM
NAFTIFINE HYDROCHLORIDE4ATM
METHYSERGIDE MALEATE4ATM
AMITRIPTYLINE HYDROCHLORIDE4ATM
XYLOMETAZOLINE HYDROCHLORIDE4ATM
FLUVOXAMINE MALEATE4ATM
ESTRADIOL VALERATE4ATM
PERMETHRIN4ATM
MITOTANE4ATM
TICLOPIDINE HYDROCHLORIDE4ATM
ENOXIMONE4ATM
METHYLENE BLUE ANHYDROUS4ATM
DITHIAZANINE IODIDE4ATM
ETHACRYNIC ACID4ATM
SECNIDAZOLE4ATM
MENADIONE4ATM

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

SymbolAssaysType breakdown
CHEK2690Binding:687, Functional:2, ADMET:1
ATM240Binding:233, Functional:5, ADMET:2
BRCA113Binding:9, Functional:4
MSH610Binding:10
MSH29Binding:9
PTEN8Binding:8

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
BRCA12.3.2.27RING-type E3 ubiquitin transferase
CHEK22.7.11.1non-specific serine/threonine protein kinase
BRIP13.6.4.12DNA helicase
ATM2.7.11.1non-specific serine/threonine protein kinase
PTEN3.1.3.16, 3.1.3.67protein-serine/threonine phosphatase, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
CHEK2690
ATM240

Pharmacogenomics

Cohort genes with a PharmGKB record: 10; with CPIC/DPWG dosing guidelines: 0.

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

Drug repurposing candidates

30 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.

CompoundMax phaseCohort target (bioactivity)
RIBOFLAVIN4BRCA1
DAUNORUBICIN HYDROCHLORIDE4BRCA1
TOPOTECAN HYDROCHLORIDE4BRCA1
DAUNORUBICIN4BRCA1
DOXORUBICIN HYDROCHLORIDE4BRCA1
MESALAMINE4BRCA1
DIPYRIDAMOLE4ATM, BRCA1
NERATINIB4CHEK2
BOSUTINIB4CHEK2
BRIGATINIB4CHEK2
SUNITINIB4CHEK2
GEFITINIB4CHEK2
AMIODARONE HYDROCHLORIDE4ATM
FURAZOLIDONE4ATM
ESTRADIOL ACETATE4ATM
NAFTIFINE HYDROCHLORIDE4ATM
METHYSERGIDE MALEATE4ATM
AMITRIPTYLINE HYDROCHLORIDE4ATM
XYLOMETAZOLINE HYDROCHLORIDE4ATM
FLUVOXAMINE MALEATE4ATM
ESTRADIOL VALERATE4ATM
PERMETHRIN4ATM
MITOTANE4ATM
TICLOPIDINE HYDROCHLORIDE4ATM
ENOXIMONE4ATM
METHYLENE BLUE ANHYDROUS4ATM
DITHIAZANINE IODIDE4ATM
ETHACRYNIC ACID4ATM
SECNIDAZOLE4ATM
MENADIONE4ATM

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)3BRCA1, CHEK2, ATM
BPhased (≥1) drug, not yet approved1MSH6
CDruggable family + PDB, no drug2BRIP1, PTEN
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug4BRCA2, PALB2, MSH2, RAD51C

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
BRCA20BRCA1
BRIP10BRCA1
PALB20BRCA1
MSH29—
PTEN8—
RAD51C0—

Clinical trials & evidence

Clinical trials

Clinical trials: 73.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified25
PHASE220
PHASE117
PHASE38
PHASE2/PHASE31
PHASE1/PHASE21
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03422198PHASE3RECRUITINGShort Course Vaginal Cuff Brachytherapy in Treating Participants With Stage I-II Endometrial Cancer
NCT00002706PHASE3COMPLETEDLaparoscopic Surgery or Standard Surgery in Treating Patients With Endometrial Cancer or Cancer of the Uterus
NCT00006011PHASE3COMPLETEDComparison of Two Combination Chemotherapy Regimens Plus Radiation Therapy in Treating Patients With Stage III or Stage IV Endometrial Cancer
NCT00063999PHASE3COMPLETEDDoxorubicin Hydrochloride, Cisplatin, and Paclitaxel or Carboplatin and Paclitaxel in Treating Patients With Stage III-IV or Recurrent Endometrial Cancer
NCT00577317PHASE3TERMINATEDFlexitouch® Home Maintenance Therapy or Standard Home Maintenance Therapy in Treating Patients With Lower-Extremity Lymphedema Caused by Treatment for Cervical Cancer, Vulvar Cancer, or Endometrial Cancer
NCT00807768PHASE3UNKNOWNPelvic Radiation Therapy or Vaginal Implant Radiation Therapy, Paclitaxel, and Carboplatin in Treating Patients With High-Risk Stage I or Stage II Endometrial Cancer
NCT00942357PHASE3UNKNOWNCarboplatin and Paclitaxel With or Without Cisplatin and Radiation Therapy in Treating Patients With Stage I, Stage II, Stage III, or Stage IVA Endometrial Cancer
NCT02065687PHASE2/PHASE3UNKNOWNPaclitaxel and Carboplatin With or Without Metformin Hydrochloride in Treating Patients With Stage III, IV, or Recurrent Endometrial Cancer
NCT02501954PHASE3COMPLETEDTrial of Cisplatin Plus Radiation Followed by Carbo and Taxol Vs. Sandwich Therapy of Carbo and Taxol Followed Radiation Then Further Carbo and Taxol
NCT00788671PHASE2ACTIVE_NOT_RECRUITINGLevonorgestrel-Releasing Intrauterine System in Treating Patients With Complex Atypical Hyperplasia or Grade I Endometrial Cancer
NCT03008408PHASE2ACTIVE_NOT_RECRUITINGA Phase II, Two-Arm Study of Everolimus and Letrozole, +/- Ribociclib (Lee011) in Patients With Advanced or Recurrent Endometrial Carcinoma
NCT05269381PHASE1/PHASE2RECRUITINGPersonalized Neoantigen Peptide-Based Vaccine in Combination With Pembrolizumab for Treatment of Advanced Solid Tumors
NCT06976021PHASE2NOT_YET_RECRUITINGImmune PET and Proteomics for the Assessment of Response to Spatially Fractionated or Palliative Radiotherapy With or Without Immunotherapy
NCT00006089PHASE2COMPLETEDTrastuzumab in Treating Patients With Stage III, Stage IV, or Recurrent Endometrial Cancer
NCT00006903PHASE2UNKNOWNFulvestrant in Treating Patients With Recurrent, Persistent, or Metastatic Endometrial Cancer
NCT00064025PHASE2COMPLETEDMedroxyprogesterone in Treating Patients With Endometrioid Adenocarcinoma of the Uterine Corpus
NCT00478426PHASE2COMPLETEDSunitinib Malate in Treating Patients With Recurrent or Metastatic Endometrial Cancer
NCT00492778PHASE2UNKNOWNRadiation Therapy With or Without Cisplatin in Treating Patients With Recurrent Endometrial Cancer
NCT00503581PHASE2TERMINATEDMegestrol in Treating Patients With Endometrial Neoplasia or Endometrial Hyperplasia
NCT00729586PHASE2COMPLETEDTemsirolimus With or Without Megestrol Acetate and Tamoxifen Citrate in Treating Patients With Advanced, Persistent, or Recurrent Endometrial Cancer
NCT01005329PHASE2COMPLETEDIntensity-Modulated Radiation Therapy, Cisplatin, and Bevacizumab Followed by Carboplatin and Paclitaxel in Treating Patients Who Have Undergone Surgery for Endometrial Cancer
NCT01010126PHASE2COMPLETEDTemsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer
NCT01041027PHASE2TERMINATEDRadiation Therapy, Paclitaxel, and Carboplatin in Treating Patients With High-Risk Endometrial Cancer
NCT02059265PHASE2TERMINATEDDasatinib in Treating Patients With Recurrent or Persistent Ovarian, Fallopian Tube, Endometrial or Peritoneal Cancer
NCT02112552PHASE2TERMINATEDPaclitaxel and Intraperitoneal Carboplatin Followed by Radiation Therapy in Treating Patients With Stage IIIC-IV Uterine Cancer
NCT02684227PHASE2COMPLETEDEnzalutamide, Carboplatin, and Paclitaxel in Treating Patients With Stage III-IV or Recurrent Endometrioid Endometrial Cancer
NCT02728258PHASE2COMPLETEDCopanlisib in Treating Patients With Persistent or Recurrent Endometrial Cancer
NCT02874430PHASE2TERMINATEDMetformin Hydrochloride and Doxycycline in Treating Patients With Localized Breast or Uterine Cancer
NCT03180294PHASE2COMPLETEDBupropion Hydrochloride in Improving Sexual Desire in Women With Breast or Gynecologic Cancer
NCT03367923PHASE2COMPLETEDHealth and Recovery Program in Increasing Physical Activity Level in Stage IA-IIIA Endometrial Cancer Survivors
NCT01970722PHASE1ACTIVE_NOT_RECRUITINGSurgery and Chemotherapy With or Without Chemotherapy After Surgery in Treating Patients With Ovarian, Fallopian Tube, Uterine, or Peritoneal Cancer
NCT02208375PHASE1ACTIVE_NOT_RECRUITINGmTORC1/2 Inhibitor AZD2014 or the Oral AKT Inhibitor AZD5363 for Recurrent Endometrial and Ovarian
NCT03120624PHASE1ACTIVE_NOT_RECRUITINGVSV-hIFNbeta-NIS With or Without Ruxolitinib Phosphate in Treating Stage IV or Recurrent Endometrial Cancer
NCT03968406PHASE1RECRUITINGTalazoparib and Radiation Therapy in Treating Patients With Locally Recurrent Gynecologic Cancers
NCT04329494PHASE1RECRUITINGPIPAC for the Treatment of Peritoneal Carcinomatosis in Patients With Ovarian, Uterine, Appendiceal, Colorectal, or Gastric Cancer
NCT05039801PHASE1RECRUITINGIACS-6274 With or Without Bevacizumab and Paclitaxel for the Treatment of Advanced Solid Tumors
NCT05092373PHASE1RECRUITINGPhase I Study of Tumor Treating Fields (TTF) in Combination With Cabozantinib or With Pembrolizumab and Nab-Paclitaxel in Patients With Advanced Solid Tumors Involving the Abdomen or Thorax
NCT00005830PHASE1COMPLETEDCombination Chemotherapy Plus Radiation Therapy in Treating Patients With Stage III or Stage IV Endometrial Cancer
NCT00005840PHASE1COMPLETEDCombination Chemotherapy Plus Radiation Therapy in Treating Patients With Stage III or Stage IV Endometrial Cancer
NCT00410553PHASE1COMPLETEDEribulin Mesylate and Gemcitabine Hydrochloride in Treating Patients With Metastatic Solid Tumors or Solid Tumors That Cannot be Removed by Surgery

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
CISPLATIN412
CAPIVASERTIB42
FILGRASTIM42
MEGESTROL ACETATE42
METFORMIN42
PEGFILGRASTIM42
TEMSIROLIMUS42
COPANLISIB41
ERIBULIN MESYLATE41
FULVESTRANT41
MEDROXYPROGESTERONE ACETATE41
PACLITAXEL41
RIBOCICLIB41
SUNITINIB MALATE41
UPROSERTIB21
VISTUSERTIB21
CHEMBL456754102
CHEMBL4801
CHEMBL540281801
CHEMBL139001
CHEMBL455968701
CHEMBL479293101
CHEMBL310927801

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 71

This page pulls from 71 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterprointogenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureuniprot