Cervical cancer
diseaseOn this page
Also known as cancer of uterine cervixcervical cancer, somaticcervical neoplasmmalignant cervical neoplasmmalignant cervical tumormalignant cervical tumourmalignant cervix neoplasmmalignant cervix tumormalignant cervix tumourmalignant cervix uteri neoplasmmalignant cervix uteri tumormalignant cervix uteri tumourmalignant neoplasm of cervixmalignant neoplasm of cervix uterimalignant neoplasm of the cervixmalignant neoplasm of the cervix uterimalignant neoplasm of the uterine cervixmalignant neoplasm of uterine cervixmalignant tumor of cervixmalignant tumor of cervix uteri
Summary
Cervical cancer (MONDO:0002974) is a cancer (an umbrella term covering 9 Mondo subtypes) with 7 cohort genes (36 GWAS associations across 15 studies; 7 CIViC-evidence somatic drivers; 36 ClinVar predisposition records) and 1,662 clinical trials. Molecularly, XRCC1 Q399R confers sensitivity to Cisplatin + Carboplatin in Cervical Cancer (CIViC Level B); 3 further subtype–drug associations are mapped below. Top therapeutic interventions include cisplatin, human papillomavirus, l1 protein virus like particles, and topotecan.
At a glance
- Classification: Cancer
- Umbrella term: 9 Mondo subtypes
- Cohort genes: 7
- GWAS associations: 36
- ClinVar variants: 36
- Clinical trials: 1,662
- Precision-medicine evidence (CIViC): 4 subtype–drug associations
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cervical cancer |
| Mondo ID | MONDO:0002974 |
| OMIM | 603956 |
| DOID | DOID:4362 |
| ICD-10-CM | C53 |
| ICD-11 | 1256072522 |
| NCIT | C9311 |
| SNOMED CT | 363354003 |
| UMLS | C4048328 |
| MedGen | 890252 |
| Anatomy (UBERON) | UBERON:0000002 |
| Is cancer (heuristic) | yes |
Also known as: cancer of uterine cervix · cervical cancer, somatic · cervical neoplasm · malignant cervical neoplasm · malignant cervical tumor · malignant cervical tumour · malignant cervix neoplasm · malignant cervix tumor · malignant cervix tumour · malignant cervix uteri neoplasm · malignant cervix uteri tumor · malignant cervix uteri tumour · malignant neoplasm of cervix · malignant neoplasm of cervix uteri · malignant neoplasm of the cervix · malignant neoplasm of the cervix uteri · malignant neoplasm of the uterine cervix · malignant neoplasm of uterine cervix · malignant tumor of cervix · malignant tumor of cervix uteri (+17 more)
Data availability: 36 ClinVar variants · 36 GWAS associations (15 studies).
Disease family
An umbrella term covering 9 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 › cervical cancer
Related subtypes (6): uterine adnexa cancer, placenta cancer, uterine carcinoma, uterine corpus cancer, uterine carcinosarcoma, endometrial cancer
Subtypes (9): cervix melanoma, uterine ligament cancer, cervical carcinoma, cervical Wilms tumor, high-grade neuroendocrine carcinoma of the cervix uteri, malignant mixed epithelial and mesenchymal tumor of cervix uteri, sarcoma of cervix uteri, malignant germ cell tumor of cervix uteri, malignant neoplasm of endocervix
Genetics & variants
GWAS landscape
36 GWAS associations across 15 studies. Top hits map to 19 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs28718232 | 3e-44 | HLA-DQA1 - HLA-DQB1 | ? | |
| rs35508382 | 1e-39 | HLA-DRB1 - HLA-DQA1 | G | |
| rs4849177 | 1e-15 | PAX8, PAX8-AS1 | C | 0.87 |
| rs27069 | 6e-15 | CLPTM1L - LINC01511 | T | 0.88 |
| rs1126513 | 3e-12 | HLA-DPB1, HLA-DPA1 | ? | |
| rs12603332 | 2e-10 | ORMDL3 | C | 0.9 |
| rs1126506 | 2e-08 | HLA-DPB1, HLA-DPA1 | ? | |
| rs2268177 | 3e-08 | CDC42 | T | |
| rs425787 | 4e-08 | Y_RNA - CD70 | ? | |
| rs225902 | 1e-07 | PRKD1 | A | 0.47 |
| rs17151352 | 2e-07 | MAGI2 | T | 20 |
| rs74388374 | 5e-07 | OSBPL10 | G | 24 |
| rs28631719 | 2e-06 | HLA-DQA1 - HLA-DQB1 | A | 0.57 |
| rs1012780 | 2e-06 | CKAP2LP1 - SIRPA | C | 2.7 |
| rs11166844 | 3e-06 | COL22A1 | T | 0.64 |
| rs148042118 | 3e-06 | LINC01982 - LINC02089 | G | 2.39 |
| rs2741873 | 3e-06 | OSGIN1 | C | 0.52 |
| rs1942084 | 3e-06 | KC6 | T | 2.89 |
| rs111761582 | 3e-06 | COL18A1 | C | 47.14 |
| rs68058549 | 3e-06 | GPC5 | G | 26.61 |
| rs2937268 | 3e-06 | PDE4B | C | 27.93 |
| rs72233830 | 3e-06 | TGA | 12.65 | |
| rs17035086 | 3e-06 | LINC02272 - PDGFC | T | 21.33 |
| rs72801535 | 3e-06 | STOX1 | C | 84.52 |
| rs73174350 | 4e-06 | MECOM | G | 30.18 |
| rs62441892 | 4e-06 | AGR2 - AGR3 | C | 24.03 |
| rs6535608 | 4e-06 | NR3C2 - ASS1P8 | C | 15.37 |
| rs11706806 | 4e-06 | ZNF385D | G | 16.61 |
| rs2299059 | 4e-06 | JARID2 | A | 16.59 |
| rs17048658 | 5e-06 | ISCA1P6 - LINC01854 | A | 0.51 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90266933 | Koel M | 2023 | 14,694 | 551,136 | GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer. |
| GCST90246358 | Koel M | 2023 | 8,624 | 400,573 | GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer. |
| GCST90246359 | Koel M | 2023 | 8,624 | 400,573 | GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer. |
| GCST90435605 | Zhou W | 2018 | 3,653 | 381,902 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90651227 | Liu TY | 2025 | 2,931 | 111,969 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90077634 | Backman JD | 2021 | 1,786 | 37,828 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081620 | Backman JD | 2021 | 1,786 | 37,828 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90477203 | Verma A | 2024 | 1,775 | 30,185 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435606 | Zhou W | 2018 | 1,659 | 381,902 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477202 | Verma A | 2024 | 802 | 15,352 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 3 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 27 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 24 |
| low_freq (0.01-0.05) | 7 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 18 |
| intergenic_variant | 7 |
| non_coding_transcript_exon_variant | 1 |
| stop_gained | 1 |
| 5_prime_UTR_variant | 1 |
| splice_region_variant | 1 |
| 3_prime_UTR_variant | 1 |
| unknown | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs28718232 | 6 | 32658973 | A>G | 0.05 | intergenic_variant | HLA-DQA1 - HLA-DQB1 | 3e-44 | Tier 4: intronic/intergenic |
| rs35508382 | 6 | 32625367 | A>G | 0.05 | intergenic_variant | HLA-DRB1 - HLA-DQA1 | 1e-39 | Tier 4: intronic/intergenic |
| rs4849177 | 2 | 113225007 | T>A,C | 0.39 | intron_variant | PAX8, PAX8-AS1 | 1e-15 | Tier 4: intronic/intergenic |
| rs27069 | 5 | 1347013 | C>T | 0.43 | non_coding_transcript_exon_variant | CLPTM1L - LINC01511 | 6e-15 | Tier 4: intronic/intergenic |
| rs1126513 | 6 | 33080690 | G>T | 0.05 | stop_gained | HLA-DPB1, HLA-DPA1 | 3e-12 | Tier 1: coding |
| rs12603332 | 17 | 39926554 | T>C | 0.49 | 5_prime_UTR_variant | ORMDL3 | 2e-10 | Tier 2: splice/UTR |
| rs1126506 | 6 | 33080682 | T>C,G | 0.05 | splice_region_variant | HLA-DPB1, HLA-DPA1 | 2e-08 | Tier 2: splice/UTR |
| rs2268177 | 1 | 22088917 | A>C,G,T | 0.05 | 3_prime_UTR_variant | CDC42 | 3e-08 | Tier 2: splice/UTR |
| rs425787 | 19 | 6578940 | T>A,C,G | 0.05 | intergenic_variant | Y_RNA - CD70 | 4e-08 | Tier 4: intronic/intergenic |
| rs225902 | 14 | 29990245 | A>G,T | 0.154 | intron_variant | PRKD1 | 1e-07 | Tier 4: intronic/intergenic |
| rs17151352 | 7 | 78716998 | T>C | 0.127 | intron_variant | MAGI2 | 2e-07 | Tier 4: intronic/intergenic |
| rs74388374 | 3 | 31878861 | G>A | 0.116 | intron_variant | OSBPL10 | 5e-07 | Tier 4: intronic/intergenic |
| rs28631719 | 6 | 32657632 | A>G | 0.426 | intergenic_variant | HLA-DQA1 - HLA-DQB1 | 2e-06 | Tier 4: intronic/intergenic |
| rs1012780 | 20 | 1774323 | C>G,T | 0.087 | intron_variant | CKAP2LP1 - SIRPA | 2e-06 | Tier 4: intronic/intergenic |
| rs11166844 | 8 | 138766637 | C>A,G,T | 0.423 | intron_variant | COL22A1 | 3e-06 | Tier 4: intronic/intergenic |
| rs148042118 | 17 | 52737990 | G>GT | 0.067 | intron_variant | LINC01982 - LINC02089 | 3e-06 | Tier 4: intronic/intergenic |
| rs2741873 | 16 | 83957967 | C>A,G,T | 0.262 | intron_variant | OSGIN1 | 3e-06 | Tier 4: intronic/intergenic |
| rs1942084 | 18 | 41568225 | T>A | 0.041 | intron_variant | KC6 | 3e-06 | Tier 4: intronic/intergenic |
| rs111761582 | 21 | 45461787 | C>A | 0.024 | intron_variant | COL18A1 | 3e-06 | Tier 4: intronic/intergenic |
| rs68058549 | 13 | 91618423 | G>C,T | 0.042 | intron_variant | GPC5 | 3e-06 | Tier 4: intronic/intergenic |
| rs2937268 | 1 | 66087924 | C>G,T | 0.062 | intron_variant | PDE4B | 3e-06 | Tier 4: intronic/intergenic |
| rs72233830 | 0.014 | 3e-06 | Tier 4: intronic/intergenic | |||||
| rs17035086 | 4 | 156696327 | T>A | 0.082 | intergenic_variant | LINC02272 - PDGFC | 3e-06 | Tier 4: intronic/intergenic |
| rs72801535 | 10 | 68872285 | C>T | 0.036 | intron_variant | STOX1 | 3e-06 | Tier 4: intronic/intergenic |
| rs73174350 | 3 | 169552715 | G>A | 0.037 | intron_variant | MECOM | 4e-06 | Tier 4: intronic/intergenic |
| rs62441892 | 7 | 16835876 | C>T | 0.072 | intron_variant | AGR2 - AGR3 | 4e-06 | Tier 4: intronic/intergenic |
| rs6535608 | 4 | 148454471 | C>A | 0.478 | intron_variant | NR3C2 - ASS1P8 | 4e-06 | Tier 4: intronic/intergenic |
| rs11706806 | 3 | 21690952 | G>A,C | 0.276 | intron_variant | ZNF385D | 4e-06 | Tier 4: intronic/intergenic |
| rs2299059 | 6 | 15376763 | A>G,T | 0.254 | intron_variant | JARID2 | 4e-06 | Tier 4: intronic/intergenic |
| rs17048658 | 2 | 128647548 | A>C,G | 0.177 | intergenic_variant | ISCA1P6 - LINC01854 | 5e-06 | Tier 4: intronic/intergenic |
ClinVar germline variants
36 retrieved; paginated sample, class counts are floors:
12 uncertain significance, 9 pathogenic, 6 conflicting classifications of pathogenicity, 5 benign/likely benign, 4 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 16327 | NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16331 | NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16332 | NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16335 | NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16338 | NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) | FGFR3 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 16339 | NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16340 | NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) | FGFR3 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 16341 | NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 16347 | NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) | FGFR3 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 16359 | NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 65562 | NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 65855 | NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) | FGFR3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 12352 | NM_000546.6(TP53):c.747G>T (p.Arg249Ser) | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128194 | NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) | BRIP1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1680106 | NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) | FGFR3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 287276 | NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) | FGFR3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 521225 | NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) | FGFR3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 546226 | NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) | FGFR3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 579912 | NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) | FGFR3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1309951 | NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1310646 | NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1680065 | NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1680111 | NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1684285 | NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1691355 | NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2874249 | NM_000142.5(FGFR3):c.2105A>T (p.Glu702Val) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3892110 | NM_000142.5(FGFR3):c.166G>A (p.Ala56Thr) | FGFR3 | Uncertain significance | criteria provided, single submitter |
| 465350 | NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 533891 | NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 651478 | NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) | FGFR3 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 50 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| TP53 | LoF | ACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WT | CIViC #45 |
| SPHK1 | CIViC #7041 | ||
| XRCC1 | CIViC #6144 | ||
| CD44 | CIViC #855 | ||
| PIK3CA | Act | ACYC,ANGS,ANSC,BCC,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,COAD,COADREAD,EPM,ESCA,ESCC,GB,GBM,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LUAD,LUSC,MBL,MGCT,NPC,NSCLC,OVT,PAAD,PAST,PLMESO,PRAD,PRCC,PROSTATE,RCC,SACA,SKCM,SOFT_TISSUE,STAD,UCEC,UCS,UTUC,VULVA,WDTC | CIViC #37 |
| BRIP1 | CIViC #15955 | ||
| FGFR3 | Act | BLADDER,BLCA,HNSC,LUSC,PCM,PLMESO,UTUC | CIViC #23 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TP53 | Orphanet:1333 | Familial pancreatic carcinoma |
| TP53 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| TP53 | Orphanet:1501 | Adrenocortical carcinoma |
| TP53 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TP53 | Orphanet:251576 | Gliosarcoma |
| TP53 | Orphanet:251579 | Giant cell glioblastoma |
| TP53 | Orphanet:251899 | Choroid plexus carcinoma |
| TP53 | Orphanet:2807 | Papilloma of choroid plexus |
| TP53 | Orphanet:293199 | Pleomorphic rhabdomyosarcoma |
| TP53 | Orphanet:3318 | Essential thrombocythemia |
| TP53 | Orphanet:524 | Li-Fraumeni syndrome |
| TP53 | Orphanet:52688 | Myelodysplastic syndrome |
| TP53 | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| TP53 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| TP53 | Orphanet:668 | Osteosarcoma |
| TP53 | Orphanet:67038 | B-cell chronic lymphocytic leukemia |
| TP53 | Orphanet:70573 | Small cell lung cancer |
| TP53 | Orphanet:96253 | Cushing disease |
| TP53 | Orphanet:99756 | Alveolar rhabdomyosarcoma |
| TP53 | Orphanet:99757 | Embryonal rhabdomyosarcoma |
| PIK3CA | Orphanet:140944 | CLOVES syndrome |
| PIK3CA | Orphanet:144 | Lynch syndrome |
| PIK3CA | Orphanet:168984 | CLAPO syndrome |
| PIK3CA | Orphanet:201 | Cowden syndrome |
| PIK3CA | Orphanet:210159 | Adult hepatocellular carcinoma |
| PIK3CA | Orphanet:221061 | Familial cerebral cavernous malformation |
| PIK3CA | Orphanet:2495 | Meningioma |
| PIK3CA | Orphanet:276280 | Hemihyperplasia-multiple lipomatosis syndrome |
| PIK3CA | Orphanet:295239 | Macrodactyly of fingers, unilateral |
| PIK3CA | Orphanet:295243 | Macrodactyly of toes, unilateral |
| PIK3CA | Orphanet:314662 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
| PIK3CA | Orphanet:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome |
| PIK3CA | Orphanet:714737 | Diffuse capillary malformation with overgrowth |
| PIK3CA | Orphanet:90308 | Capillary-lymphatic-venous malformation with segmental distribution |
| PIK3CA | Orphanet:99802 | Hemimegalencephaly |
| BRIP1 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| BRIP1 | Orphanet:84 | Fanconi anemia |
| FGFR3 | Orphanet:15 | Achondroplasia |
| FGFR3 | Orphanet:1860 | Thanatophoric dysplasia type 1 |
| FGFR3 | Orphanet:2363 | Lacrimoauriculodentodigital syndrome |
| FGFR3 | Orphanet:251576 | Gliosarcoma |
| FGFR3 | Orphanet:251579 | Giant cell glioblastoma |
| FGFR3 | Orphanet:35099 | Non-syndromic bicoronal craniosynostosis |
| FGFR3 | Orphanet:429 | Hypochondroplasia |
| FGFR3 | Orphanet:53271 | Muenke syndrome |
| FGFR3 | Orphanet:794 | Saethre-Chotzen syndrome |
| FGFR3 | Orphanet:85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| FGFR3 | Orphanet:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
| FGFR3 | Orphanet:93262 | Crouzon syndrome-acanthosis nigricans syndrome |
| FGFR3 | Orphanet:93274 | Thanatophoric dysplasia type 2 |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| civic_only | 4 |
| multi_evidence | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TP53 | HGNC:11998 | ENSG00000141510 | P04637 | Cellular tumor antigen p53 | clinvar,civic_evidence |
| SPHK1 | HGNC:11240 | ENSG00000176170 | Q9NYA1 | Sphingosine kinase 1 | civic_evidence |
| XRCC1 | HGNC:12828 | ENSG00000073050 | P18887 | DNA repair protein XRCC1 | civic_evidence |
| CD44 | HGNC:1681 | ENSG00000026508 | P16070 | CD44 antigen | civic_evidence |
| PIK3CA | HGNC:8975 | ENSG00000121879 | P42336 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | civic_evidence |
| BRIP1 | HGNC:20473 | ENSG00000136492 | Q9BX63 | Fanconi anemia group J protein | clinvar |
| FGFR3 | HGNC:3690 | ENSG00000068078 | P22607 | Fibroblast growth factor receptor 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TP53 | Cellular tumor antigen p53 | Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence. |
| SPHK1 | Sphingosine kinase 1 | Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. |
| XRCC1 | DNA repair protein XRCC1 | Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. |
| CD44 | CD44 antigen | Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. |
| PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides. |
| BRIP1 | Fanconi anemia group J protein | DNA-dependent ATPase and 5’-3’ DNA helicase required for the maintenance of chromosomal stability. |
| FGFR3 | Fibroblast growth factor receptor 3 | Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. |
Protein-family classification
Druggable: 4 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.57
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 |
|---|---|---|---|
| Kinase | 3 | 11.9× | 0.006 |
| Enzyme (other) | 1 | 1.7× | 0.793 |
| Transcription factor | 1 | 1.2× | 0.793 |
| Other/Unknown | 2 | 0.5× | 0.968 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TP53 | Transcription factor | no | p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn | |
| SPHK1 | Kinase | yes | 2.7.1.91 | Diacylglycerol_kinase_cat_dom, NAD/diacylglycerol_kinase_sf, ATP-NAD_kinase_N |
| XRCC1 | Other/Unknown | no | BRCT_dom, Xrcc1_N, Galactose-bd-like_sf | |
| CD44 | Other/Unknown | no | Link_dom, CD44_antigen, C-type_lectin-like/link_sf | |
| PIK3CA | Kinase | yes | 2.7.1.137 | PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom, PI3K_accessory_dom |
| BRIP1 | Enzyme (other) | yes | 3.6.4.12 | Helicase-like_DEXD_c2, ATP-dep_Helicase_C, RAD3-like_helicase_DEAD |
| FGFR3 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2 |
Expression context
Cohort genes with no expression data: 0.
7 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) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ventricular zone | 3 |
| ganglionic eminence | 2 |
| tendon of biceps brachii | 2 |
| stromal cell of endometrium | 2 |
| lower esophagus mucosa | 1 |
| tibial nerve | 1 |
| mammalian vulva | 1 |
| parotid gland | 1 |
| adrenal tissue | 1 |
| calcaneal tendon | 1 |
| tendon | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| primordial germ cell in gonad | 1 |
| skin of hip | 1 |
| upper arm skin | 1 |
| upper leg skin | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TP53 | 223 | ubiquitous | marker | ventricular zone, ganglionic eminence, tendon of biceps brachii |
| SPHK1 | 210 | ubiquitous | marker | stromal cell of endometrium, lower esophagus mucosa, tibial nerve |
| XRCC1 | 276 | ubiquitous | marker | ventricular zone, tendon of biceps brachii, ganglionic eminence |
| CD44 | 294 | ubiquitous | marker | parotid gland, stromal cell of endometrium, mammalian vulva |
| PIK3CA | 284 | ubiquitous | marker | calcaneal tendon, adrenal tissue, tendon |
| BRIP1 | 181 | ubiquitous | marker | ventricular zone, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis |
| FGFR3 | 262 | broad | marker | upper leg skin, skin of hip, upper arm skin |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TP53 | 22,736 |
| CD44 | 6,810 |
| PIK3CA | 5,157 |
| FGFR3 | 4,510 |
| XRCC1 | 2,591 |
| SPHK1 | 2,277 |
| BRIP1 | 2,272 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| FGFR3 | PIK3CA | string_interaction |
Structural data
PDB: 7 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TP53 | P04637 | 313 |
| PIK3CA | P42336 | 135 |
| FGFR3 | P22607 | 15 |
| XRCC1 | P18887 | 13 |
| CD44 | P16070 | 6 |
| SPHK1 | Q9NYA1 | 5 |
| BRIP1 | Q9BX63 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 164. Enrichment computed across 7 evidence-associated genes (7 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 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| PI-3K cascade:FGFR3 | 2 | 181.3× | 0.007 | FGFR3, PIK3CA |
| Signaling by FGFR3 in disease | 2 | 141.9× | 0.007 | FGFR3, PIK3CA |
| Association of TriC/CCT with target proteins during biosynthesis | 2 | 83.7× | 0.011 | TP53, SPHK1 |
| PI3K Cascade | 2 | 77.7× | 0.011 | FGFR3, PIK3CA |
| t(4;14) translocations of FGFR3 | 1 | 1631.4× | 0.014 | FGFR3 |
| Signaling by FGFR3 fusions in cancer | 1 | 1631.4× | 0.014 | FGFR3 |
| Loss of function of TP53 in cancer due to loss of tetramerization ability | 1 | 1631.4× | 0.014 | TP53 |
| Extra-nuclear estrogen signaling | 2 | 48.7× | 0.014 | SPHK1, PIK3CA |
| Regulation of TP53 Expression | 1 | 815.7× | 0.015 | TP53 |
| Signaling by ALK fusions and activated point mutants | 2 | 42.9× | 0.015 | TP53, PIK3CA |
| PKR-mediated signaling | 2 | 40.3× | 0.015 | TP53, SPHK1 |
| VEGFA-VEGFR2 Pathway | 2 | 39.8× | 0.015 | SPHK1, PIK3CA |
| Constitutive Signaling by Aberrant PI3K in Cancer | 2 | 36.2× | 0.015 | FGFR3, PIK3CA |
| G2/M DNA damage checkpoint | 2 | 34.4× | 0.015 | TP53, BRIP1 |
| Interferon Signaling | 2 | 34.4× | 0.015 | SPHK1, CD44 |
| Regulation of TP53 Activity through Phosphorylation | 2 | 33.6× | 0.015 | TP53, BRIP1 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 2 | 27.6× | 0.021 | FGFR3, PIK3CA |
| Transcriptional activation of cell cycle inhibitor p21 | 1 | 407.9× | 0.022 | TP53 |
| Resolution of AP sites via the single-nucleotide replacement pathway | 1 | 326.3× | 0.026 | XRCC1 |
| Activation of NOXA and translocation to mitochondria | 1 | 271.9× | 0.026 | TP53 |
| MET activates PI3K/AKT signaling | 1 | 271.9× | 0.026 | PIK3CA |
| Activated NTRK3 signals through PI3K | 1 | 271.9× | 0.026 | PIK3CA |
| FGFR3b ligand binding and activation | 1 | 233.1× | 0.026 | FGFR3 |
| APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway | 1 | 233.1× | 0.026 | XRCC1 |
| RUNX3 regulates CDKN1A transcription | 1 | 233.1× | 0.026 | TP53 |
| Activated NTRK2 signals through PI3K | 1 | 233.1× | 0.026 | PIK3CA |
| Signaling by LTK in cancer | 1 | 233.1× | 0.026 | PIK3CA |
| PIP3 activates AKT signaling | 2 | 19.1× | 0.026 | FGFR3, PIK3CA |
| PI3K/AKT activation | 1 | 181.3× | 0.027 | PIK3CA |
| PI5P Regulates TP53 Acetylation | 1 | 181.3× | 0.027 | TP53 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| double-strand break repair | 3 | 87.0× | 0.001 | TP53, XRCC1, BRIP1 |
| response to muscle inactivity | 1 | 2407.4× | 0.010 | PIK3CA |
| sphingoid catabolic process | 1 | 2407.4× | 0.010 | SPHK1 |
| negative regulation of developmental growth | 1 | 2407.4× | 0.010 | FGFR3 |
| negative regulation of helicase activity | 1 | 2407.4× | 0.010 | TP53 |
| cellular response to actinomycin D | 1 | 2407.4× | 0.010 | TP53 |
| regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 1 | 2407.4× | 0.010 | TP53 |
| negative regulation of G1 to G0 transition | 1 | 2407.4× | 0.010 | TP53 |
| response to butyrate | 1 | 2407.4× | 0.010 | PIK3CA |
| regulation of endosomal vesicle fusion | 1 | 2407.4× | 0.010 | SPHK1 |
| nucleotide-excision repair | 2 | 109.4× | 0.010 | TP53, BRIP1 |
| negative regulation of protein ADP-ribosylation | 1 | 1203.7× | 0.010 | XRCC1 |
| positive regulation of mitochondrial membrane permeability | 1 | 1203.7× | 0.010 | TP53 |
| oligodendrocyte apoptotic process | 1 | 1203.7× | 0.010 | TP53 |
| fibroblast growth factor receptor apoptotic signaling pathway | 1 | 1203.7× | 0.010 | FGFR3 |
| negative regulation of glucose catabolic process to lactate via pyruvate | 1 | 1203.7× | 0.010 | TP53 |
| regulation of base-excision repair | 1 | 1203.7× | 0.010 | XRCC1 |
| negative regulation of pentose-phosphate shunt | 1 | 1203.7× | 0.010 | TP53 |
| meiotic DNA double-strand break processing involved in reciprocal meiotic recombination | 1 | 802.5× | 0.010 | BRIP1 |
| obsolete homolactic fermentation | 1 | 802.5× | 0.010 | TP53 |
| response to L-leucine | 1 | 802.5× | 0.010 | PIK3CA |
| monocyte aggregation | 1 | 802.5× | 0.010 | CD44 |
| bone maturation | 1 | 802.5× | 0.010 | FGFR3 |
| cellular response to hydrostatic pressure | 1 | 802.5× | 0.010 | PIK3CA |
| signal transduction by p53 class mediator | 1 | 802.5× | 0.010 | TP53 |
| positive regulation of monocyte aggregation | 1 | 802.5× | 0.010 | CD44 |
| negative regulation of miRNA processing | 1 | 802.5× | 0.010 | TP53 |
| intrinsic apoptotic signaling pathway in response to hypoxia | 1 | 802.5× | 0.010 | TP53 |
| regulation of fibroblast apoptotic process | 1 | 802.5× | 0.010 | TP53 |
| regulation of lamellipodium morphogenesis | 1 | 802.5× | 0.010 | CD44 |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 4 · Phased (≥1): 4 · Undrugged: 3
Druggability breadth: 5 of 7 evidence-associated genes (71%) 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 |
|---|---|
| TP53 | NITROFURANTOIN |
| PIK3CA | IDELALISIB |
| FGFR3 | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TP53 | 196 | 4 |
| PIK3CA | 67 | 4 |
| FGFR3 | 64 | 4 |
| SPHK1 | 3 | 3 |
| XRCC1 | 0 | 0 |
| CD44 | 0 | 0 |
| BRIP1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 4.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PIK3CA | 2,034 | Binding:2009, ADMET:19, Toxicity:4, Functional:2 |
| FGFR3 | 975 | Binding:948, Functional:18, ADMET:9 |
| TP53 | 869 | Binding:775, ADMET:83, Functional:10, Toxicity:1 |
| SPHK1 | 232 | Binding:228, ADMET:3, Functional:1 |
| CD44 | 9 | Binding:9 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| SPHK1 | 2.7.1.91 | sphingosine kinase |
| PIK3CA | 2.7.1.137, 2.7.1.153, 2.7.11.1 | phosphatidylinositol 3-kinase, phosphatidylinositol-4,5-bisphosphate 3-kinase, non-specific serine/threonine protein kinase |
| BRIP1 | 3.6.4.12 | DNA helicase |
| FGFR3 | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| TP53 | 869 |
| SPHK1 | 232 |
| PIK3CA | 2,034 |
| FGFR3 | 975 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 7; 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TP53, PIK3CA, FGFR3 |
| B | Phased (≥1) drug, not yet approved | 1 | SPHK1 |
| C | Druggable family + PDB, no drug | 1 | BRIP1 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | XRCC1, CD44 |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| XRCC1 | 0 | — |
| CD44 | 9 | — |
| BRIP1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 1,662.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 333 |
| PHASE2 | 324 |
| PHASE1 | 170 |
| PHASE3 | 134 |
| PHASE1/PHASE2 | 84 |
| PHASE4 | 29 |
| PHASE2/PHASE3 | 14 |
| EARLY_PHASE1 | 12 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00923702 | PHASE4 | ACTIVE_NOT_RECRUITING | Trial of Two Versus Three Doses of Human Papillomavirus (HPV) Vaccine in India |
| NCT04910802 | PHASE4 | RECRUITING | Concomitant HPV Vaccination and HPV Screening HPV Infection and Cervical Cancer in Sweden |
| NCT06536855 | PHASE4 | NOT_YET_RECRUITING | Faster Elimination of HPV Infection and Cervical Cancer Using Concomitant HPV Vaccination and HPV Screening: A Demonstration Project in Rwanda |
| NCT06871787 | PHASE4 | NOT_YET_RECRUITING | Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery |
| NCT06952660 | PHASE4 | RECRUITING | Ocular Assessments in Patients Treated With Tivdak® in Recurrent or Metastatic Cervical Cancer |
| NCT07412873 | PHASE4 | NOT_YET_RECRUITING | Study on Sexual Health and Self-perceived Quality of Life (PROMs) in Patients Treated for Cervical Cancer |
| NCT00046969 | PHASE4 | COMPLETED | Epoetin Beta in Treating Anemia in Patients With Cervical Cancer |
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00613275 | PHASE4 | COMPLETED | Patient Navigation in the Safety Net:CONNECTeDD |
| NCT00629993 | PHASE4 | TERMINATED | Dissemination of Cervical Cancer Screening to Primary Care Physicians in Underserved Communities |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT00862810 | PHASE4 | COMPLETED | Alternate Dosing Schedules Study for HPV Vaccine |
| NCT01021904 | PHASE4 | UNKNOWN | Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China |
| NCT01101750 | PHASE4 | COMPLETED | Does the HPV Vaccine Cause the Same Response in Adolescent Kidney and Liver Transplant Patients as in Healthy Controls? |
| NCT01173900 | PHASE4 | COMPLETED | Delivery, Uptake and Acceptability of HPV Vaccination in Tanzanian Girls |
| NCT01544478 | PHASE4 | COMPLETED | V501 Safety and Efficacy Study in Japanese Women Aged 16 to 26 Years (V501-110) |
| NCT01895517 | PHASE4 | COMPLETED | CervIcal Cancer Screening Trial by Randomization of HPV Testing Intervention for Upcoming Screening (CITRUS Study) |
| NCT01953107 | PHASE4 | COMPLETED | Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. |
| NCT02296255 | PHASE4 | COMPLETED | Effect of HPV Vaccination on Women Aged 25 Years |
| NCT02629510 | PHASE4 | UNKNOWN | The Efficacy of Tachosil® for Prevention of Hemorrhage After Loop Electrosurgical Excisional Procedure (LEEP) |
| NCT02837926 | PHASE4 | COMPLETED | Comparing Health Services Interventions for the Prevention of HPV-related Cancer |
| NCT03206684 | PHASE4 | UNKNOWN | To Evaluate the Efficacy and Safety of PEG-rhG-CSF(Jinyouli®) in Reducing Neutropenia in Patients With Cervical Cancer |
| NCT03349463 | PHASE4 | UNKNOWN | Evaluation of Fluciclovine Uptake in Patients With Cervical, Ovarian Epithelial or Endometrial Cancers. |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03423082 | PHASE4 | TERMINATED | Pilot Study to Assess the Potential Clinical Utility of 18F Fluciclovine PET for Cervical and Endometrial Cancer. |
| NCT03752606 | PHASE4 | COMPLETED | Application of Tachosil During Lymphadenectomy |
| NCT04819685 | PHASE4 | UNKNOWN | Application of KANG FU PEN in Radical Concurrent Radiotherapy and Chemotherapy for Cervical Cancer to Prevent and Treat Radiation-induced Rectal Injury |
| NCT05426148 | PHASE4 | COMPLETED | Lot Consistency Clinical Trial of of Recombinant HPV Bivalent Vaccine in 9 to14 Years Old Healthy Female |
| NCT06031493 | PHASE4 | UNKNOWN | A Multimodal Intervention Program to Improve Sexual Health and Self-perceived Quality of Life in Patients Treated for Cervical Cancer (PROVIDENCE) |
| NCT01566240 | PHASE3 | ACTIVE_NOT_RECRUITING | Induction Chemotherapy Plus Chemoradiation as First Line Treatment for Locally Advanced Cervical Cancer |
| NCT02466971 | PHASE3 | ACTIVE_NOT_RECRUITING | Testing the Addition of a New Anti-Cancer Drug, Triapine, to the Usual Chemotherapy Treatment (Cisplatin) During Radiation Therapy for Advanced-stage Cervical and Vaginal Cancers |
| NCT03755739 | PHASE2/PHASE3 | RECRUITING | Trans-Artery/Intra-Tumor Infusion of Checkpoint Inhibitors Plus Chemodrug for Immunotherapy of Advanced Solid Tumors |
| NCT04422366 | PHASE3 | RECRUITING | Evaluate the Efficacy, Immunogenicity and Safety of 9-valent HPV Recombinant Vaccine in Chinese Healthy Females |
| NCT04537156 | PHASE3 | ACTIVE_NOT_RECRUITING | Efficacy, Immunogenicity and Safety Study of Recombinant Human Papillomavirus Vaccine(6,11,16,18,31,33,45,52,58 Type)(E.Coli) |
| NCT04723875 | PHASE3 | ACTIVE_NOT_RECRUITING | Postoperative Adjuvant Chemotherapy in Early-stage Cervical Cancer That Not Meet Criteria of Adjuvant Therapeutic According to NCCN Guideline |
| NCT04733820 | PHASE3 | RECRUITING | Clinical Efficacy of Adjuvant Chemotherapy in Patients With Locally Advanced Cervical Cancer Who Did Not Meet the NCCN Guidelines for Adjuvant Treatment After NACT Combined With Surgery |
| NCT04895020 | PHASE3 | RECRUITING | Immunobridging Study of 9-valent Human Papillomavirus Recombinant Vaccine in Chinese Females Aged 9 to 19 Years |
| NCT04906993 | PHASE3 | ACTIVE_NOT_RECRUITING | Camrelizumab Combined With Famitinib Malate for Treatment of Recurrent/Metastatic Cervical Cancer |
| NCT04974346 | PHASE3 | RECRUITING | Para-aortic Prophylactic Irradiation for Locally Advanced Cervical Cancer |
| NCT04982237 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AK104 Plus Platinum-containing Chemotherapy±Bevacizumab as First-line Treatment for Persistent, Recurrent, or Metastatic Cervical Cancer |
Drugs tested across these trials (top 30)
Precision-medicine subtype map (CIViC)
Drug × molecular subtype: 4 predictive associations from 4 curated evidence items; also 3 prognostic, 1 oncogenic.
| Molecular subtype | Therapy | Effect | Level | CIViC |
|---|---|---|---|---|
| XRCC1 Q399R | Cisplatin + Carboplatin | Sensitivity/Response | CIViC B | EID673 |
| CD44 CD44v6 | Cisplatin | Resistance | CIViC B | EID9481 |
| PIK3CA E545K | Cisplatin | Resistance | CIViC D | EID2985 |
| PIK3CA E545K | Cisplatin + Ionizing Radiotherapy | Resistance | CIViC D | EID8112 |
Related Atlas pages
- Cohort genes: TP53, SPHK1, XRCC1, CD44, PIK3CA, BRIP1, FGFR3
- Drugs: Cisplatin, HUMAN PAPILLOMAVIRUS, L1 PROTEIN VIRUS LIKE PARTICLES, Topotecan, Gemcitabine, Tisotumab Vedotin, Hydralazine, Vinorelbine, Fluorouracil, Ifosfamide, Indocyanine Green Acid Form, Bleomycin, Bupropion, Dalteparin, Epoetin Alfa, Epoetin Beta, Ferrous Fumarate, FLUCICLOVINE F18, Mitomycin, Nicotine, Octreotide Acetate, Pembrolizumab, Vinblastine, Vincristine, Vindesine, Triapine, Tirapazamine, Magnesium Valproate, Rivoceranib, Arundine, Fenretinide