Lip and oral cavity carcinoma
diseaseOn this page
Also known as lip and oral cavity canceroral canceroral carcinoma
Summary
Lip and oral cavity carcinoma (MONDO:0023644) is a cancer with 20 cohort genes (12 CIViC-evidence somatic drivers; 47 ClinVar predisposition records) and 211 clinical trials. The dominant Reactome pathway is Constitutive Signaling by EGFRvIII (3 cohort genes). Top therapeutic interventions include cetuximab, atezolizumab, and brodalumab.
At a glance
- Classification: Cancer
- Cohort genes: 20
- ClinVar variants: 47
- Clinical trials: 211
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lip and oral cavity carcinoma |
| Mondo ID | MONDO:0023644 |
| NCIT | C9315 |
| UMLS | C0220641 |
| MedGen | 67387 |
| GARD | 0009342 |
| Is cancer (heuristic) | yes |
Also known as: lip and oral cavity cancer · lip and oral cavity carcinoma · oral cancer · oral carcinoma
Data availability: 47 ClinVar variants.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › head and neck carcinoma › lip and oral cavity carcinoma
Related subtypes (15): eye carcinoma, external ear carcinoma, middle ear carcinoma, nasal cavity carcinoma, growth hormone-producing pituitary gland carcinoma, hypopharyngeal carcinoma, ameloblastic carcinoma, laryngeal small cell carcinoma, pharyngeal adenoid cystic carcinoma, head and neck squamous cell carcinoma, nasopharyngeal carcinoma, pituitary adenocarcinoma, carcinoma of floor of mouth, oropharyngeal carcinoma, nasal cavity and paranasal sinus carcinoma
Subtypes (2): lip and oral cavity squamous cell carcinoma, oral cavity 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
47 retrieved; paginated sample, class counts are floors:
17 pathogenic, 10 pathogenic/likely pathogenic, 8 association, 3 uncertain significance, 3 conflicting classifications of pathogenicity, 2 association not found, 2 likely pathogenic, 1 benign, 1 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 376091 | NM_005157.6(ABL1):c.764A>T (p.Glu255Val) | ABL1 | Pathogenic | no assertion criteria provided |
| 376097 | NM_005157.6(ABL1):c.1187A>G (p.His396Arg) | ABL1 | Pathogenic | no assertion criteria provided |
| 977765 | NM_004333.6(BRAF):c.1277G>C (p.Arg426Thr) | BRAF | Pathogenic | no assertion criteria provided |
| 376303 | NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) | CDKN2A | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 9409 | NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) | CDKN2A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 12601 | NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) | HRAS | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 12602 | NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) | HRAS | Pathogenic | reviewed by expert panel |
| 12612 | NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) | HRAS | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 35554 | NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) | HRAS | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 180848 | NM_005343.4(HRAS):c.38G>T (p.Gly13Val) | LRRC56 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 13652 | NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) | PIK3CA | Pathogenic | reviewed by expert panel |
| 31944 | NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) | PIK3CA | Pathogenic | reviewed by expert panel |
| 376473 | NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) | PIK3CA | Pathogenic | no assertion criteria provided |
| 12347 | NM_000546.6(TP53):c.742C>T (p.Arg248Trp) | TP53 | Pathogenic | reviewed by expert panel |
| 12356 | NM_000546.6(TP53):c.743G>A (p.Arg248Gln) | TP53 | Pathogenic | reviewed by expert panel |
| 12359 | NM_000546.6(TP53):c.722C>T (p.Ser241Phe) | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 12374 | NM_000546.6(TP53):c.524G>A (p.Arg175His) | TP53 | Pathogenic | reviewed by expert panel |
| 135359 | NM_000546.6(TP53):c.638G>A (p.Arg213Gln) | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 141764 | NM_000546.6(TP53):c.799C>T (p.Arg267Trp) | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 142144 | NM_000546.6(TP53):c.916C>T (p.Arg306Ter) | TP53 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 142766 | NM_000546.6(TP53):c.455C>T (p.Pro152Leu) | TP53 | Pathogenic | reviewed by expert panel |
| 182930 | NM_000546.6(TP53):c.493C>T (p.Gln165Ter) | TP53 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 233908 | NM_000546.6(TP53):c.902del (p.Pro301fs) | TP53 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 233951 | NM_000546.6(TP53):c.517G>A (p.Val173Met) | TP53 | Pathogenic | reviewed by expert panel |
| 458560 | NM_000546.6(TP53):c.731G>C (p.Gly244Ala) | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 481003 | NM_000546.6(TP53):c.376-1G>A | TP53 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 977783 | NM_000546.6(TP53):c.610G>T (p.Glu204Ter) | TP53 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 977782 | NM_000077.5(CDKN2A):c.233_234del (p.Leu78fs) | CDKN2A | Likely pathogenic | no assertion criteria provided |
| 977766 | NM_005228.5(EGFR):c.2235_2237del (p.Glu746del) | EGFR | Likely pathogenic | no assertion criteria provided |
| 412537 | NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) | LOC130062899 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 94 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| BRAF | Act | BLCA,BRCA,CHOL,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,GBM,GIST,HGGNOS,LGGNOS,LUAD,MEL,MLYM,NSCLC,OVT,PAST,PCM,PRAD,PRCC,PROSTATE,READ,SACA,SKCM,STAD,UCEC,WDTC | CIViC #5 |
| 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 |
| CDKN2A | LoF | ACYC,BLCA,BRCA,CHOL,COAD,COADREAD,CSCC,EGC,ESCA,ESCC,GBM,HCC,HNSC,LGGNOS,LUAD,LUSC,MEL,MLYM,NPC,NSCLC,OS,PAAD,PANCREAS,RCC,SKCM,SKIN,STAD,STOMACH,WDTC | CIViC #14 |
| PREX2 | Act | BLCA,BRCA,COAD,DLBCLNOS,ESCA,ESCC,HCC,MEL,OVT,PANCREAS,PRAD,STAD | CIViC #15344 |
| EGFR | Act | BRCA,COADREAD,GB,GBM,HGGNOS,LGGNOS,LUAD,LUSC,NSCLC,PAST,PCM,READ,SIC | CIViC #19 |
| FHIT | Act | DLBCLNOS | CIViC #1893 |
| HRAS | Act | ANGS,BLCA,BRCA,COADREAD,CSCC,HNSC,LUSC,NPC,PGNG,PRAD,PROSTATE,THYM,UTUC,WDTC | CIViC #2747 |
| KIT | Act | AML,GIST,MEL,MGCT | CIViC #29 |
| MMP2 | CIViC #3549 | ||
| ABL1 | LoF | UCEC | CIViC #4 |
| 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 |
| RB1 | LoF | ACC,BLADDER,BLCA,BRCA,CESC,ESCA,GB,GBM,GIST,HCC,HNSC,LGGNOS,LIPO,LMS,LUAD,LUSC,MEL,MT,NSCLC,OS,OVT,PANCREAS,PCM,PRAD,PROSTATE,RBL,SCLC,SKCM,SOFT_TISSUE,STAD,STOMACH,UCEC,UCS | CIViC #4795 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| BRAF | Orphanet:1340 | Cardiofaciocutaneous syndrome |
| BRAF | Orphanet:146 | Differentiated thyroid carcinoma |
| BRAF | Orphanet:251615 | Pilomyxoid astrocytoma |
| BRAF | Orphanet:389 | Langerhans cell histiocytosis |
| BRAF | Orphanet:500 | Noonan syndrome with multiple lentigines |
| BRAF | Orphanet:54595 | Craniopharyngioma |
| BRAF | Orphanet:58017 | Classic hairy cell leukemia |
| BRAF | Orphanet:626 | Large/giant congenital melanocytic nevus |
| BRAF | Orphanet:648 | Noonan syndrome |
| BRAF | Orphanet:840 | Syringocystadenoma papilliferum |
| BRAF | Orphanet:96253 | Cushing 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 |
| CDKN2A | Orphanet:1333 | Familial pancreatic carcinoma |
| CDKN2A | Orphanet:1501 | Adrenocortical carcinoma |
| CDKN2A | Orphanet:252206 | Melanoma and neural system tumor syndrome |
| CDKN2A | Orphanet:404560 | Familial atypical multiple mole melanoma syndrome |
| CDKN2A | Orphanet:524 | Li-Fraumeni syndrome |
| CDKN2A | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| CDKN2A | Orphanet:618 | Familial melanoma |
| CDKN2A | Orphanet:99861 | Precursor T-cell acute lymphoblastic leukemia |
| ANKRD17 | Orphanet:528084 | Non-specific syndromic intellectual disability |
| LRRC56 | Orphanet:244 | Primary ciliary dyskinesia |
| EGFR | Orphanet:251576 | Gliosarcoma |
| EGFR | Orphanet:251579 | Giant cell glioblastoma |
| FHIT | Orphanet:422526 | Hereditary clear cell renal cell carcinoma |
| GRIK2 | Orphanet:528084 | Non-specific syndromic intellectual disability |
| GRIK2 | Orphanet:88616 | Autosomal recessive non-syndromic intellectual disability |
| HRAS | Orphanet:146 | Differentiated thyroid carcinoma |
| HRAS | Orphanet:2612 | Linear nevus sebaceus syndrome |
| HRAS | Orphanet:2874 | Phakomatosis pigmentokeratotica |
| HRAS | Orphanet:3071 | Costello syndrome |
Cohort genes → proteins
20 cohort genes, 20 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 20 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| BRAF | HGNC:1097 | ENSG00000157764 | P15056 | Serine/threonine-protein kinase B-raf | clinvar |
| SNTB1 | HGNC:11168 | ENSG00000172164 | Q13884 | Beta-1-syntrophin | clinvar |
| TP53 | HGNC:11998 | ENSG00000141510 | P04637 | Cellular tumor antigen p53 | clinvar |
| CDKN2A | HGNC:1787 | ENSG00000147889 | P42771 | Cyclin-dependent kinase inhibitor 2A | clinvar |
| CNTN4 | HGNC:2174 | ENSG00000144619 | Q8IWV2 | Contactin-4 | clinvar |
| PREX2 | HGNC:22950 | ENSG00000046889 | Q70Z35 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | clinvar |
| SAMD4A | HGNC:23023 | ENSG00000020577 | Q9UPU9 | Protein Smaug homolog 1 | clinvar |
| ANKRD17 | HGNC:23575 | ENSG00000132466 | O75179 | Ankyrin repeat domain-containing protein 17 | clinvar |
| CCDC3 | HGNC:23813 | ENSG00000151468 | Q9BQI4 | Coiled-coil domain-containing protein 3 | clinvar |
| LRRC56 | HGNC:25430 | ENSG00000161328 | Q8IYG6 | Leucine-rich repeat-containing protein 56 | clinvar |
| EGFR | HGNC:3236 | ENSG00000146648 | P00533 | Epidermal growth factor receptor | clinvar |
| FHIT | HGNC:3701 | ENSG00000189283 | P49789 | Bis(5’-adenosyl)-triphosphatase | clinvar |
| GRIK2 | HGNC:4580 | ENSG00000164418 | Q13002 | Glutamate receptor ionotropic, kainate 2 | clinvar |
| HRAS | HGNC:5173 | ENSG00000174775 | P01112 | GTPase HRas | clinvar |
| KIT | HGNC:6342 | ENSG00000157404 | P10721 | Mast/stem cell growth factor receptor Kit | clinvar |
| LNX1 | HGNC:6657 | ENSG00000072201 | Q8TBB1 | E3 ubiquitin-protein ligase LNX | clinvar |
| MMP2 | HGNC:7166 | ENSG00000087245 | P08253 | 72 kDa type IV collagenase | clinvar |
| ABL1 | HGNC:76 | ENSG00000097007 | P00519 | Tyrosine-protein kinase ABL1 | clinvar |
| PIK3CA | HGNC:8975 | ENSG00000121879 | P42336 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | clinvar |
| RB1 | HGNC:9884 | ENSG00000139687 | P06400 | Retinoblastoma-associated protein | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| BRAF | Serine/threonine-protein kinase B-raf | Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. |
| SNTB1 | Beta-1-syntrophin | Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. |
| TP53 | Cellular tumor antigen p53 | Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence. |
| CDKN2A | Cyclin-dependent kinase inhibitor 2A | Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. |
| CNTN4 | Contactin-4 | Contactins mediate cell surface interactions during nervous system development. |
| PREX2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. |
| SAMD4A | Protein Smaug homolog 1 | Acts as a translational repressor of SRE-containing messengers. |
| ANKRD17 | Ankyrin repeat domain-containing protein 17 | Could play pivotal roles in cell cycle and DNA regulation. |
| CCDC3 | Coiled-coil domain-containing protein 3 | Negatively regulates TNF-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-induced NF-kappaB activation in ECs. |
| LRRC56 | Leucine-rich repeat-containing protein 56 | Required for the assembly of dynein arms. |
| EGFR | Epidermal growth factor receptor | Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. |
| FHIT | Bis(5’-adenosyl)-triphosphatase | Possesses dinucleoside triphosphate hydrolase activity. |
| GRIK2 | Glutamate receptor ionotropic, kainate 2 | Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. |
| HRAS | GTPase HRas | Involved in the activation of Ras protein signal transduction. |
| KIT | Mast/stem cell growth factor receptor Kit | Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell develo… |
| LNX1 | E3 ubiquitin-protein ligase LNX | E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. |
| MMP2 | 72 kDa type IV collagenase | Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. |
| ABL1 | Tyrosine-protein kinase ABL1 | Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autopha… |
| 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. |
| RB1 | Retinoblastoma-associated protein | Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle. |
Protein-family classification
Druggable: 9 · Difficult: 6 · Unknown: 5 · Druggable fraction: 0.45
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 | 5 | 6.9× | 0.004 |
| Scaffold/PPI | 4 | 3.5× | 0.090 |
| Protease | 1 | 1.8× | 0.708 |
| Antibody/Immunoglobulin | 1 | 1.5× | 0.708 |
| Enzyme (other) | 2 | 1.2× | 0.708 |
| Transcription factor | 2 | 0.8× | 0.835 |
| Other/Unknown | 5 | 0.5× | 0.999 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| BRAF | Kinase | yes | 2.7.10.2 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE |
| SNTB1 | Scaffold/PPI | no | PDZ, PH_domain, PH-like_dom_sf | |
| TP53 | Transcription factor | no | p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn | |
| CDKN2A | Scaffold/PPI | no | Ankyrin_rpt-contain_sf, Ank_Repeat/CDKN_Inhibitor, Tumor_suppres_ARF | |
| CNTN4 | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, FN3_dom | |
| PREX2 | Scaffold/PPI | no | DH_dom, DEP_dom, GDS_CDC24_CS | |
| SAMD4A | Other/Unknown | no | SAM, SAM/pointed_sf, PHAT_dom_sf | |
| ANKRD17 | Scaffold/PPI | no | Ankyrin_rpt, KH_dom, KH_dom_type_1 | |
| CCDC3 | Other/Unknown | no | CCDC3 | |
| LRRC56 | Other/Unknown | no | Leu-rich_rpt, Leu-rich_rpt_4, LRR_dom_sf | |
| EGFR | Kinase | yes | 2.7.10.1 | Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom |
| FHIT | Enzyme (other) | yes | 3.6.1.29 | HIT-like, Histidine_triad_CS, HIT-like_sf |
| GRIK2 | Other/Unknown | no | Iontro_rcpt_C, Iono_Glu_rcpt_met, ANF_lig-bd_rcpt | |
| HRAS | Enzyme (other) | yes | 3.6.5.2 | Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type |
| KIT | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| LNX1 | Transcription factor | no | PDZ, Znf_RING, Znf_RING/FYVE/PHD | |
| MMP2 | Protease | yes | 3.4.24.24 | FN_type2_dom, Hemopexin-like_dom, Pept_M10_metallopeptidase |
| ABL1 | Kinase | yes | 2.7.10.2 | Prot_kinase_dom, SH2, Ser-Thr/Tyr_kinase_cat_dom |
| PIK3CA | Kinase | yes | 2.7.1.137 | PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom, PI3K_accessory_dom |
| RB1 | Other/Unknown | no | RB_B, RB_A, Cyclin-like_dom |
Expression context
Cohort genes with no expression data: 0.
20 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) | 20 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| calcaneal tendon | 3 |
| visceral pleura | 3 |
| buccal mucosa cell | 2 |
| right adrenal gland | 2 |
| right adrenal gland cortex | 2 |
| parotid gland | 2 |
| lateral nuclear group of thalamus | 2 |
| secondary oocyte | 2 |
| colonic epithelium | 1 |
| left adrenal gland | 1 |
| ganglionic eminence | 1 |
| tendon of biceps brachii | 1 |
| ventricular zone | 1 |
| cervix squamous epithelium | 1 |
| pituitary gland | 1 |
| sperm | 1 |
| endothelial cell | 1 |
| dorsal motor nucleus of vagus nerve | 1 |
| heart right ventricle | 1 |
| inferior olivary complex | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| BRAF | 265 | ubiquitous | marker | buccal mucosa cell, colonic epithelium, calcaneal tendon |
| SNTB1 | 245 | ubiquitous | marker | right adrenal gland, right adrenal gland cortex, left adrenal gland |
| TP53 | 223 | ubiquitous | marker | ventricular zone, ganglionic eminence, tendon of biceps brachii |
| CDKN2A | 220 | ubiquitous | marker | parotid gland, cervix squamous epithelium, pituitary gland |
| CNTN4 | 214 | broad | marker | sperm, buccal mucosa cell, lateral nuclear group of thalamus |
| PREX2 | 241 | broad | marker | calcaneal tendon, endothelial cell, visceral pleura |
| SAMD4A | 288 | ubiquitous | marker | dorsal motor nucleus of vagus nerve, inferior olivary complex, heart right ventricle |
| ANKRD17 | 292 | ubiquitous | marker | secondary oocyte, sural nerve, visceral pleura |
| CCDC3 | 231 | broad | marker | saphenous vein, right coronary artery, upper arm skin |
| LRRC56 | 129 | broad | marker | right uterine tube, right testis, left testis |
| EGFR | 285 | ubiquitous | marker | nipple, gingiva, gingival epithelium |
| FHIT | 188 | ubiquitous | marker | right adrenal gland, right adrenal gland cortex, left adrenal gland cortex |
| GRIK2 | 213 | broad | marker | cerebellar vermis, cerebellar cortex, cerebellar hemisphere |
| HRAS | 139 | ubiquitous | marker | skin of abdomen, skin of leg, zone of skin |
| KIT | 263 | broad | marker | lateral nuclear group of thalamus, secondary oocyte, oocyte |
| LNX1 | 256 | broad | marker | esophagus squamous epithelium, middle temporal gyrus, parotid gland |
| MMP2 | 262 | ubiquitous | marker | stromal cell of endometrium, gall bladder, mucosa of stomach |
| ABL1 | 283 | ubiquitous | marker | frontal pole, paraflocculus, middle frontal gyrus |
| PIK3CA | 284 | ubiquitous | marker | calcaneal tendon, adrenal tissue, tendon |
| RB1 | 287 | ubiquitous | marker | epithelium of nasopharynx, choroid plexus epithelium, visceral pleura |
Protein interactions among cohort
Intra-cohort edges: 22.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TP53 | 22,736 |
| EGFR | 18,421 |
| CDKN2A | 9,311 |
| HRAS | 8,064 |
| BRAF | 7,394 |
| ABL1 | 6,937 |
| KIT | 6,087 |
| LNX1 | 5,295 |
| PIK3CA | 5,157 |
| MMP2 | 4,603 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| ABL1 | EGFR | intact |
| ABL1 | RB1 | biogrid_interaction |
| ABL1 | TP53 | string_interaction |
| BRAF | CDKN2A | string_interaction |
| BRAF | EGFR | biogrid_interaction |
| BRAF | HRAS | intact, string_interaction |
| BRAF | PIK3CA | biogrid_interaction, string_interaction |
| BRAF | PREX2 | intact |
| BRAF | TP53 | string_interaction |
| CCDC3 | TP53 | biogrid_interaction |
| CDKN2A | FHIT | string_interaction |
| CDKN2A | HRAS | string_interaction |
| CDKN2A | RB1 | string_interaction |
| CDKN2A | TP53 | string_interaction |
| EGFR | HRAS | string_interaction |
| EGFR | PIK3CA | string_interaction |
| FHIT | TP53 | string_interaction |
| HRAS | TP53 | string_interaction |
| KIT | PIK3CA | biogrid_interaction |
| KIT | TP53 | biogrid_interaction |
| PIK3CA | PREX2 | string_interaction |
| RB1 | TP53 | string_interaction |
Structural data
PDB: 16 · AlphaFold-only: 4 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| EGFR | P00533 | 388 |
| TP53 | P04637 | 313 |
| HRAS | P01112 | 246 |
| PIK3CA | P42336 | 135 |
| BRAF | P15056 | 131 |
| ABL1 | P00519 | 85 |
| KIT | P10721 | 52 |
| RB1 | P06400 | 19 |
| MMP2 | P08253 | 14 |
| FHIT | P49789 | 9 |
| CDKN2A | P42771 | 5 |
| LNX1 | Q8TBB1 | 3 |
| SNTB1 | Q13884 | 2 |
| GRIK2 | Q13002 | 2 |
| PREX2 | Q70Z35 | 1 |
| SAMD4A | Q9UPU9 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| CNTN4 | Q8IWV2 | 86.72 |
| CCDC3 | Q9BQI4 | 76.13 |
| LRRC56 | Q8IYG6 | 56.07 |
| ANKRD17 | O75179 | 53.73 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 350. Enrichment computed across 20 evidence-associated genes (15 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 15 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Constitutive Signaling by EGFRvIII | 3 | 142.8× | 2e-04 | EGFR, HRAS, PIK3CA |
| Signaling by ERBB2 ECD mutants | 3 | 134.3× | 2e-04 | EGFR, HRAS, PIK3CA |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 3 | 114.2× | 2e-04 | EGFR, HRAS, PIK3CA |
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 3 | 103.8× | 2e-04 | HRAS, KIT, PIK3CA |
| RAF/MAP kinase cascade | 5 | 20.4× | 2e-04 | BRAF, EGFR, HRAS, KIT, PIK3CA |
| Signaling by ERBB2 KD Mutants | 3 | 84.6× | 3e-04 | EGFR, HRAS, PIK3CA |
| Oncogene Induced Senescence | 3 | 67.2× | 5e-04 | TP53, CDKN2A, RB1 |
| Signaling by SCF-KIT | 3 | 49.6× | 0.001 | HRAS, KIT, PIK3CA |
| Cyclin D associated events in G1 | 3 | 46.6× | 0.001 | CDKN2A, ABL1, RB1 |
| EGFR Transactivation by Gastrin | 2 | 152.3× | 0.003 | EGFR, HRAS |
| Extra-nuclear estrogen signaling | 3 | 34.1× | 0.003 | EGFR, MMP2, PIK3CA |
| Signaling by FGFR4 in disease | 2 | 126.9× | 0.003 | HRAS, PIK3CA |
| Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants | 2 | 117.1× | 0.003 | HRAS, PIK3CA |
| Signaling by PDGFRA extracellular domain mutants | 2 | 117.1× | 0.003 | HRAS, PIK3CA |
| GRB2 events in EGFR signaling | 2 | 101.5× | 0.003 | EGFR, HRAS |
| Stabilization of p53 | 2 | 101.5× | 0.003 | TP53, CDKN2A |
| TFAP2 (AP-2) family regulates transcription of growth factors and their receptors | 2 | 101.5× | 0.003 | EGFR, KIT |
| Signaling by FLT3 ITD and TKD mutants | 2 | 101.5× | 0.003 | HRAS, PIK3CA |
| SHC1 events in EGFR signaling | 2 | 95.2× | 0.003 | EGFR, HRAS |
| PI3K events in ERBB2 signaling | 2 | 89.6× | 0.003 | EGFR, PIK3CA |
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 2 | 89.6× | 0.003 | TP53, RB1 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 3 | 25.4× | 0.003 | EGFR, KIT, PIK3CA |
| GAB1 signalosome | 2 | 84.6× | 0.004 | EGFR, PIK3CA |
| GRB2 events in ERBB2 signaling | 2 | 84.6× | 0.004 | EGFR, HRAS |
| Tie2 Signaling | 2 | 80.1× | 0.004 | HRAS, PIK3CA |
| SUMOylation of transcription factors | 2 | 76.1× | 0.004 | TP53, CDKN2A |
| Signaling by FLT3 fusion proteins | 2 | 76.1× | 0.004 | HRAS, PIK3CA |
| Signaling by FGFR3 in disease | 2 | 66.2× | 0.005 | HRAS, PIK3CA |
| SHC1 events in ERBB2 signaling | 2 | 63.4× | 0.005 | EGFR, HRAS |
| Signaling by ERBB2 TMD/JMD mutants | 2 | 63.4× | 0.005 | EGFR, HRAS |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| neuron apoptotic process | 5 | 46.3× | 3e-05 | TP53, GRIK2, HRAS, ABL1, RB1 |
| cellular senescence | 4 | 59.1× | 2e-04 | TP53, CDKN2A, HRAS, ABL1 |
| epidermal growth factor receptor signaling pathway | 4 | 49.6× | 2e-04 | BRAF, EGFR, ABL1, PIK3CA |
| Ras protein signal transduction | 4 | 41.1× | 3e-04 | TP53, CDKN2A, HRAS, RB1 |
| regulation of cell cycle | 5 | 18.6× | 6e-04 | TP53, CDKN2A, HRAS, ABL1, RB1 |
| positive regulation of extracellular matrix organization | 2 | 421.3× | 6e-04 | ABL1, RB1 |
| T cell receptor signaling pathway | 4 | 30.4× | 6e-04 | BRAF, HRAS, ABL1, PIK3CA |
| myeloid progenitor cell differentiation | 2 | 240.7× | 0.001 | BRAF, KIT |
| mitochondrial depolarization | 2 | 240.7× | 0.001 | CDKN2A, ABL1 |
| oncogene-induced cell senescence | 2 | 240.7× | 0.001 | CDKN2A, HRAS |
| negative regulation of neuron apoptotic process | 4 | 22.2× | 0.001 | BRAF, GRIK2, HRAS, PIK3CA |
| epithelial cell proliferation | 3 | 46.8× | 0.002 | EGFR, KIT, RB1 |
| positive regulation of fibroblast proliferation | 3 | 44.4× | 0.002 | EGFR, HRAS, ABL1 |
| positive regulation of neuron apoptotic process | 3 | 40.8× | 0.002 | TP53, GRIK2, ABL1 |
| negative regulation of glial cell proliferation | 2 | 168.5× | 0.002 | TP53, RB1 |
| somatic stem cell population maintenance | 3 | 37.2× | 0.002 | BRAF, CDKN2A, KIT |
| cellular response to xenobiotic stimulus | 3 | 36.1× | 0.002 | BRAF, TP53, RB1 |
| positive regulation of ERK1 and ERK2 cascade | 4 | 17.0× | 0.002 | BRAF, EGFR, HRAS, ABL1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 3 | 31.6× | 0.003 | PREX2, EGFR, PIK3CA |
| regulation of T cell differentiation | 2 | 120.4× | 0.003 | BRAF, ABL1 |
| rRNA transcription | 2 | 99.1× | 0.004 | TP53, CDKN2A |
| regulation of long-term neuronal synaptic plasticity | 2 | 99.1× | 0.004 | GRIK2, HRAS |
| replicative senescence | 2 | 99.1× | 0.004 | TP53, CDKN2A |
| negative regulation of gene expression | 4 | 13.8× | 0.004 | CCDC3, HRAS, PIK3CA, RB1 |
| glial cell proliferation | 2 | 88.7× | 0.005 | TP53, RB1 |
| positive regulation of cell migration | 4 | 12.3× | 0.006 | EGFR, HRAS, KIT, MMP2 |
| positive regulation of peptidyl-serine phosphorylation | 2 | 76.6× | 0.006 | BRAF, EGFR |
| negative regulation of cell growth | 3 | 21.6× | 0.007 | TP53, CDKN2A, RB1 |
| cellular response to gamma radiation | 2 | 60.2× | 0.010 | TP53, HRAS |
| chromosome organization | 2 | 58.1× | 0.010 | TP53, RB1 |
Therapeutics
Drug target analysis
Approved (phase 4): 8 · Phase ≥3: 10 · Phased (≥1): 11 · Undrugged: 9
Druggability breadth: 12 of 20 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.
| Symbol | Example approved molecule |
|---|---|
| BRAF | VEMURAFENIB |
| TP53 | NITROFURANTOIN |
| EGFR | LEVODOPA |
| HRAS | LONAFARNIB |
| KIT | PONATINIB |
| MMP2 | DOXYCYCLINE |
| ABL1 | PONATINIB |
| PIK3CA | IDELALISIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TP53 | 196 | 4 |
| EGFR | 175 | 4 |
| ABL1 | 122 | 4 |
| KIT | 99 | 4 |
| PIK3CA | 67 | 4 |
| BRAF | 48 | 4 |
| MMP2 | 26 | 4 |
| HRAS | 4 | 4 |
| GRIK2 | 2 | 3 |
| FHIT | 1 | 3 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| VEMURAFENIB | 4 | BRAF, EGFR |
| PONATINIB | 4 | ABL1, BRAF, EGFR, KIT |
| FEDRATINIB | 4 | ABL1, BRAF, EGFR, KIT, PIK3CA |
| SORAFENIB | 4 | ABL1, BRAF, EGFR, KIT |
| DASATINIB ANHYDROUS | 4 | ABL1, BRAF, EGFR, KIT |
| RUXOLITINIB | 4 | ABL1, BRAF, KIT |
| INFIGRATINIB PHOSPHATE | 4 | ABL1, BRAF, KIT |
| INFIGRATINIB | 4 | ABL1, BRAF, KIT |
| REGORAFENIB | 4 | ABL1, BRAF, KIT |
| DABRAFENIB | 4 | ABL1, BRAF |
| COBIMETINIB | 4 | BRAF |
| NILOTINIB | 4 | ABL1, BRAF, KIT |
| ABEMACICLIB | 4 | BRAF, EGFR |
| ENCORAFENIB | 4 | BRAF |
| TOVORAFENIB | 4 | ABL1, BRAF |
| PAZOPANIB | 4 | ABL1, BRAF, KIT |
| DASATINIB | 4 | ABL1, BRAF, EGFR, KIT, PIK3CA |
| ERLOTINIB | 4 | ABL1, BRAF, EGFR, KIT |
| GEFITINIB | 4 | ABL1, BRAF, EGFR, KIT |
| IMATINIB | 4 | ABL1, BRAF, EGFR, KIT |
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | EGFR, TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 8.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| EGFR | 6,531 | Binding:6211, Functional:173, ADMET:138, Toxicity:9 |
| ABL1 | 3,282 | Binding:3254, ADMET:16, Functional:10, Toxicity:2 |
| KIT | 2,305 | Binding:2242, ADMET:32, Functional:22, Toxicity:9 |
| PIK3CA | 2,034 | Binding:2009, ADMET:19, Toxicity:4, Functional:2 |
| BRAF | 1,442 | Binding:1400, Functional:37, ADMET:5 |
| TP53 | 869 | Binding:775, ADMET:83, Functional:10, Toxicity:1 |
| MMP2 | 771 | Binding:735, ADMET:28, Functional:7, Unclassified:1 |
| GRIK2 | 92 | Binding:66, Functional:26 |
| RB1 | 59 | Binding:59 |
| HRAS | 48 | Binding:45, Functional:3 |
| FHIT | 21 | Binding:19, ADMET:2 |
| CDKN2A | 2 | Binding:2 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| BRAF | 2.7.10.2, 2.7.11.1 | non-specific protein-tyrosine kinase, non-specific serine/threonine protein kinase |
| EGFR | 2.7.10.1 | receptor protein-tyrosine kinase |
| FHIT | 3.6.1.29 | bis(5’-adenosyl)-triphosphatase |
| HRAS | 3.6.5.2 | small monomeric GTPase |
| KIT | 2.7.10.1 | receptor protein-tyrosine kinase |
| MMP2 | 3.4.24.24 | gelatinase A |
| ABL1 | 2.7.10.2 | non-specific protein-tyrosine 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 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| BRAF | 1,442 |
| TP53 | 869 |
| EGFR | 6,531 |
| KIT | 2,305 |
| MMP2 | 771 |
| ABL1 | 3,282 |
| PIK3CA | 2,034 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 20; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
29 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) |
|---|---|---|
| VEMURAFENIB | 4 | BRAF, EGFR |
| PONATINIB | 4 | ABL1, BRAF, EGFR, KIT |
| FEDRATINIB | 4 | ABL1, BRAF, EGFR, KIT, PIK3CA |
| SORAFENIB | 4 | ABL1, BRAF, EGFR, KIT |
| DASATINIB ANHYDROUS | 4 | ABL1, BRAF, EGFR, KIT |
| RUXOLITINIB | 4 | ABL1, BRAF, KIT |
| INFIGRATINIB PHOSPHATE | 4 | ABL1, BRAF, KIT |
| INFIGRATINIB | 4 | ABL1, BRAF, KIT |
| REGORAFENIB | 4 | ABL1, BRAF, KIT |
| DABRAFENIB | 4 | ABL1, BRAF |
| COBIMETINIB | 4 | BRAF |
| NILOTINIB | 4 | ABL1, BRAF, KIT |
| ABEMACICLIB | 4 | BRAF, EGFR |
| ENCORAFENIB | 4 | BRAF |
| TOVORAFENIB | 4 | ABL1, BRAF |
| PAZOPANIB | 4 | ABL1, BRAF, KIT |
| DASATINIB | 4 | ABL1, BRAF, EGFR, KIT, PIK3CA |
| GEFITINIB | 4 | ABL1, BRAF, EGFR, KIT |
| IMATINIB | 4 | ABL1, BRAF, EGFR, KIT |
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | EGFR, TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 8 | BRAF, TP53, EGFR, HRAS, KIT, MMP2, ABL1, PIK3CA |
| B | Phased (≥1) drug, not yet approved | 3 | FHIT, GRIK2, RB1 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 1 | CNTN4 |
| E | Difficult family or no structure, no drug | 8 | SNTB1, CDKN2A, PREX2, SAMD4A, ANKRD17, CCDC3, LRRC56, LNX1 |
Undrugged target profiles
9 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PREX2 | 0 | PIK3CA |
| SNTB1 | 0 | — |
| CDKN2A | 2 | — |
| CNTN4 | 0 | — |
| SAMD4A | 0 | — |
| ANKRD17 | 0 | — |
| CCDC3 | 0 | — |
| LRRC56 | 0 | — |
| LNX1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 211.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 132 |
| PHASE2 | 30 |
| PHASE1 | 17 |
| PHASE3 | 13 |
| PHASE2/PHASE3 | 7 |
| PHASE1/PHASE2 | 6 |
| PHASE4 | 3 |
| EARLY_PHASE1 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01418118 | PHASE4 | COMPLETED | Assessment of the Effects of Pressors on Graft Blood Flow After Free Tissue Transfer Surgery |
| NCT03017053 | PHASE4 | UNKNOWN | The Optimal Neck Treatments Strategy of Early Oral Cancer Based on Adverse Pathological Factor |
| NCT03684707 | PHASE4 | UNKNOWN | Cancer Chemoprevention by Metformin Hydrochloride Compared to Placebo in Oral Potentially Malignant Lesions |
| NCT04333537 | PHASE2/PHASE3 | RECRUITING | Comparing Sentinel Lymph Node (SLN) Biopsy With Standard Neck Dissection for Patients With Early-Stage Oral Cavity Cancer |
| NCT05063552 | PHASE2/PHASE3 | ACTIVE_NOT_RECRUITING | Testing the Use of Investigational Drugs Atezolizumab and/or Bevacizumab With or Without Standard Chemotherapy in the Second-Line Treatment of Advanced-Stage Head and Neck Cancers |
| NCT05429099 | PHASE2/PHASE3 | RECRUITING | Mandibular Reconstruction Preplanning (ViPMR) |
| NCT05721755 | PHASE3 | ACTIVE_NOT_RECRUITING | Combining Radiation Therapy With Immunotherapy for the Treatment of Metastatic Squamous Cell Carcinoma of the Head and Neck |
| NCT06589804 | PHASE3 | RECRUITING | Testing the Addition of Anti-Cancer Drug, Cetuximab, to Standard of Care Treatment (Pembrolizumab) for Returning or Spreading Head and Neck Cancer After Previous Treatment |
| NCT06737822 | PHASE3 | RECRUITING | Upfront Surgery Vs Induction Chemotherapy Followed By Surgery In Oral Cancers: |
| NCT07402538 | PHASE3 | NOT_YET_RECRUITING | Surgery With or Without Neoadjuvant Treatment of SBRT Plus Chemoimmunotherapy in Resectable Locally Advanced Oral and HPV-unrelated Oropharyngeal Squamous Cell Carcinoma |
| NCT07441681 | PHASE3 | NOT_YET_RECRUITING | Comparing Radiation Plus Cetuximab to Radiation Plus Chemotherapy in People With Head and Neck Cancer Who Cannot Receive Cisplatin |
| NCT00158652 | PHASE3 | COMPLETED | Accelerated Radiotherapy and Concomitant Chemo-radiotherapy in HNSCC |
| NCT00158678 | PHASE3 | COMPLETED | IMRT Plus Cisplatin Versus Conventional Radiotherapy Plus Cisplatin in Stage III-IV HNSCC |
| NCT00162708 | PHASE2/PHASE3 | COMPLETED | Very Intense Radiotherapy-Chemotherapy Regimen in Advanced HNSCC |
| NCT00402779 | PHASE3 | COMPLETED | Erlotinib Prevention of Oral Cancer (EPOC) |
| NCT00655421 | PHASE3 | UNKNOWN | Oral Cancer Screening in Mumbai, India by Primary Health Care Workers |
| NCT00750503 | PHASE3 | COMPLETED | Workplace Tobacco Cessation And Oral Cancer Screening Study |
| NCT00964977 | PHASE3 | COMPLETED | Effectiveness of Adjuvant Radiotherapy in Small Oropharyngeal Squamous Cell Cancer and Single Lymph Node Metastasis. |
| NCT01039298 | PHASE3 | UNKNOWN | Efficacy of Optically-guided Surgery in the Management of Early-staged Oral Cancer - COOLS TRIAL |
| NCT01434394 | PHASE2/PHASE3 | COMPLETED | Neoadjuvant Erbitux Based Chemotherapy for Locally Advanced Oral/Oropharyngeal Cancer |
| NCT03258554 | PHASE2/PHASE3 | COMPLETED | Radiation Therapy With Durvalumab or Cetuximab in Treating Patients With Locoregionally Advanced Head and Neck Cancer Who Cannot Take Cisplatin |
| NCT03685409 | PHASE3 | UNKNOWN | Cancer Chemoprevention by Metformin Hydrochloride in Oral Potentially Malignant Lesions |
| NCT05865548 | PHASE2/PHASE3 | COMPLETED | Addition of Aspirin to Standard of Care in Oral Cancer |
| NCT02734537 | PHASE2 | RECRUITING | Radiation Therapy With or Without Cisplatin in Treating Patients With Stage III-IVA Squamous Cell Carcinoma of the Head and Neck Who Have Undergone Surgery |
| NCT03174275 | PHASE2 | ACTIVE_NOT_RECRUITING | Carboplatin, Nab-Paclitaxel, Durvalumab Before Surgery and Adjuvant Therapy in Head and Neck Squamous Cell Carcinoma |
| NCT03383094 | PHASE2 | ACTIVE_NOT_RECRUITING | Chemoradiation vs Immunotherapy and Radiation for Head and Neck Cancer |
| NCT03529422 | PHASE2 | ACTIVE_NOT_RECRUITING | Durvalumab With Radiotherapy for Adjuvant Treatment of Intermediate Risk SCCHN |
| NCT04191460 | PHASE2 | RECRUITING | Fluorescence-guided Surgery Using cRGD-ZW800-1 in Oral Cancer |
| NCT04862650 | PHASE2 | ACTIVE_NOT_RECRUITING | Cemiplimab, Low-Dose Paclitaxel and Carboplatin for the Treatment of Recurrent/Metastatic Squamous Cell Carcinoma of the Head and Neck |
| NCT05136196 | PHASE2 | RECRUITING | BiCaZO: A Study Combining Two Immunotherapies (Cabozantinib and Nivolumab) to Treat Patients With Advanced Melanoma or Squamous Cell Head and Neck Cancer, an immunoMATCH Pilot Study |
| NCT05172258 | PHASE2 | ACTIVE_NOT_RECRUITING | Testing the Addition of an Anti-cancer Drug, Ipatasertib, to the Usual Immunotherapy Treatment (Pembrolizumab) in Patients With Recurrent or Metastatic Squamous Cell Cancer of the Head and Neck |
| NCT05941338 | PHASE2 | RECRUITING | Tirelizumab in Combination With Carboplatin and Albumin-binding Paclitaxel for Neoadjuvant Therapy in HNSCC |
| NCT05980702 | PHASE2 | RECRUITING | 4 Courses vs 2 Courses of Pembrolizumab Combined With Carboplatin and Albumin-binding Paclitaxel of Neoadjuvant Therapy in HNSCC |
| NCT06130332 | PHASE2 | RECRUITING | Neoadjuvant Tirellizumab Combined With Chemotherapy for Early Oral Squamous Cell Carcinoma(HNC-SYSU-004) |
| NCT06532279 | PHASE2 | RECRUITING | Testing the Addition of the Drug BMX-001, a Radioprotector, or a Placebo to the Usual Chemoradiation Therapy for Patients With Head and Neck Cancer |
| NCT06627270 | PHASE2 | RECRUITING | Antibiotic Treatment Effects on Intratumoral Bacteria Modulation in Surgical Patients With Oral Cancer |
| NCT06636734 | PHASE2 | RECRUITING | Lovastatin and Pembrolizumab for the Treatment of Patients With Recurrent or Metastatic Head and Neck Cancer, LAPP Trial |
| NCT06876038 | PHASE2 | NOT_YET_RECRUITING | Low-cost Screening and Image-guided Photodynamic Therapy (PDT) of Premalignant and Malignant Oral Lesions |
| NCT06980038 | PHASE2 | RECRUITING | Testing Whether Cemiplimab (REGN2810) Plus CDX-1140 Given Prior to Surgery Are Better Than Cemiplimab (REGN2810) Alone in Patients With Stage III-IV Head and Neck Cancer |
| NCT06997068 | PHASE2 | RECRUITING | Methotrexate, Erlotinib, and Celecoxib for the Treatment of Recurrent/Metastatic Head and Neck Cancer in a Rural Midwest United States Population |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CETUXIMAB | 4 | 3 |
| ATEZOLIZUMAB | 4 | 1 |
| BRODALUMAB | 4 | 1 |
| CABOZANTINIB | 4 | 1 |
| CEMIPLIMAB | 4 | 1 |
| CHLORHEXIDINE | 4 | 1 |
| DEZOCINE | 4 | 1 |
| DOBUTAMINE | 4 | 1 |
| DURVALUMAB | 4 | 1 |
| EPINEPHRINE | 4 | 1 |
| ERLOTINIB | 4 | 1 |
| FLUDEOXYGLUCOSE F 18 | 4 | 1 |
| LOVASTATIN | 4 | 1 |
| MOGAMULIZUMAB | 4 | 1 |
| NALBUPHINE | 4 | 1 |
| NAPROXEN SODIUM | 4 | 1 |
| NOREPINEPHRINE | 4 | 1 |
| SODIUM THIOSULFATE | 4 | 1 |
| TECHNETIUM TC 99M SULFUR COLLOID | 4 | 1 |
| TEMSIROLIMUS | 4 | 1 |
| IPATASERTIB | 3 | 2 |
| QUERCETIN | 3 | 1 |
| STARCH | 3 | 1 |
| XEVINAPANT | 3 | 1 |
| PROFLAVINE | 2 | 4 |
| CAMONSERTIB | 2 | 1 |
| CONTUSUGENE LADENOVEC | 2 | 1 |
| DOPEXAMINE | 2 | 1 |
| RACEPINEPHRINE | 2 | 1 |
| TOZULERISTIDE | 2 | 1 |
Related Atlas pages
- Cohort genes: BRAF, TP53, CDKN2A, PREX2, EGFR, FHIT, HRAS, KIT, MMP2, ABL1, PIK3CA, RB1, SNTB1, CNTN4, SAMD4A, ANKRD17, CCDC3, LRRC56, GRIK2, LNX1
- Drugs: Cetuximab, Atezolizumab, Brodalumab, Cabozantinib, Cemiplimab, Chlorhexidine, Dezocine, Dobutamine, Durvalumab, Epinephrine, Erlotinib, FLUDEOXYGLUCOSE F 18, Lovastatin, Mogamulizumab, Nalbuphine, Naproxen, Norepinephrine, Sodium Thiosulfate, TECHNETIUM TC 99M SULFUR COLLOID, Temsirolimus, Ipatasertib, Quercetin, Starch, Xevinapant