Pharynx cancer
disease diseaseOn this page
Also known as cancer of chordate pharynxcancer of pharynxchordate pharynx cancermalignant chordate pharynx neoplasmmalignant neoplasm of chordate pharynxmalignant neoplasm of pharynxmalignant pharyngeal neoplasmmalignant pharyngeal tumormalignant pharyngeal tumourmalignant pharynx neoplasmmalignant pharynx tumormalignant pharynx tumourmalignant tumor of pharynxmalignant tumor of the pharynxmalignant tumour of pharynxmalignant tumour of the pharynxpharynx neoplasm
Summary
Pharynx cancer (MONDO:0005517) is a cancer (an umbrella term covering 5 Mondo subtypes) with 4 GWAS associations across 3 studies and 9 clinical trials. Top therapeutic interventions include cisplatin, zimberelimab, and etrumadenant. A subtype of respiratory system cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 4
- Clinical trials: 9
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pharynx cancer |
| Mondo ID | MONDO:0005517 |
| EFO | EFO:0005577 |
| MeSH | D010610 |
| DOID | DOID:0060119 |
| NCIT | C7545 |
| UMLS | C0153405 |
| MedGen | 57554 |
| Anatomy (UBERON) | UBERON:0001042 |
| Is cancer (heuristic) | yes |
Also known as: cancer of chordate pharynx · cancer of pharynx · chordate pharynx cancer · malignant chordate pharynx neoplasm · malignant neoplasm of chordate pharynx · malignant neoplasm of pharynx · malignant pharyngeal neoplasm · malignant pharyngeal tumor · malignant pharyngeal tumour · malignant pharynx neoplasm · malignant pharynx tumor · malignant pharynx tumour · malignant tumor of pharynx · malignant tumor of the pharynx · malignant tumour of pharynx · malignant tumour of the pharynx · pharynx cancer · pharynx neoplasm
Data availability: 4 GWAS associations (3 studies).
Disease family
This is a subtype of respiratory system cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › respiratory system cancer › pharynx cancer
Related subtypes (8): nasal cavity cancer, tracheal cancer, bronchus cancer, larynx cancer, pleural cancer, lung cancer, SMARCA4-deficient sarcoma of thorax, paranasal sinus cancer
Subtypes (5): pharyngeal squamous cell carcinoma, oropharynx cancer, hypopharynx cancer, pharyngeal adenoid cystic carcinoma, malignant tumor of nasopharynx
Genetics & variants
GWAS landscape
4 GWAS associations across 3 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1229984 | 1e-12 | ADH1B | C | 1.83 |
| chr9:40243677 | 1e-11 | G | 957.77 | |
| rs74957563 | 1e-09 | RSBN1L | G | 2.66 |
| chr19:13809063 | 3e-08 | T | 2.33 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90428467 | Chien HT | 2023 | 331 | 2,400 | Single-nucleotide polymorphism at alcohol dehydrogenase 1B: A susceptible gene marker in oro-/hypopharyngeal cancers from genome-wide association study. |
| GCST90018898 | Sakaue S | 2021 | 329 | 355,235 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90018678 | Sakaue S | 2021 | 300 | 178,426 | A cross-population atlas of genetic associations for 220 human phenotypes. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 3 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 2 |
| missense_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1229984 | 4 | 99318162 | T>A,C,G | 0.05 | missense_variant | ADH1B | 1e-12 | Tier 1: coding |
| chr9:40243677 | 1e-11 | Tier 4: intronic/intergenic | ||||||
| rs74957563 | 7 | 77740777 | G>A | intron_variant | RSBN1L | 1e-09 | Tier 4: intronic/intergenic | |
| chr19:13809063 | 3e-08 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated or in trials for this disease
3 approved drugs — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Status |
|---|---|
| Cisplatin | Approved (phase 3) |
| Fluorouracil | Approved (phase 3) |
| Hydroxyurea | Approved (phase 3) |
2 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| 5-FLUORONICOTINIC ACID | Phase 3 |
| Sodium Bicarbonate | Phase 3 |
Clinical trials & evidence
Clinical trials
Clinical trials: 9.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE1 | 2 |
| PHASE3 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00359645 | PHASE3 | COMPLETED | Randomized Trial to Assess the Impact of a Screening Program on Upper Aerodigestive Tract Cancer Mortality in a High Risk Population |
| NCT03420963 | PHASE1 | TERMINATED | Donor Natural Killer Cells, Cyclophosphamide, and Etoposide in Treating Children and Young Adults With Relapsed or Refractory Solid Tumors |
| NCT04892875 | PHASE1 | WITHDRAWN | A Study of Concurrent Chemoradiation in Combination With or Without PD1 Inhibitor AB122 Adenosine 2a Receptor / Adenosine 2b Receptor Inhibitor AB928 Therapies in Locally Advanced Head and Neck Cancers |
| NCT00140556 | EARLY_PHASE1 | COMPLETED | Angiogenic and EGFR Blockade With Curative Chemoradiation for Advanced Head and Neck Cancer |
| NCT05719779 | Not specified | RECRUITING | Tolerance and Benefits of Mandibular Advanced Device for Snoring and Sleep Apnea in Oropharyngeal Cancer. |
| NCT05837221 | Not specified | RECRUITING | Microbiome in Head and Neck Squamous Cell Carcinoma |
| NCT03479463 | Not specified | TERMINATED | Use of Human Dehydrated Amnion Chorion Allograft in Laryngectomy/Pharyngectomy |
| NCT03653039 | Not specified | COMPLETED | Comparison Between a Standard Tube and the Ultra-thin Tritube for Intubation of the Trachea and for Maintaining Access to the Trachea After Anaesthesia, in Patients With an Expected Difficult Direct Laryngoscopy |
| NCT04028479 | Not specified | COMPLETED | The Registry of Oncology Outcomes Associated With Testing and Treatment |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CISPLATIN | 4 | 2 |
| ZIMBERELIMAB | 3 | 1 |
| ETRUMADENANT | 2 | 1 |
Related Atlas pages
- Drugs: Cisplatin, Zimberelimab