Oral cavity neoplasm

Summary

Oral cavity neoplasm (MONDO:0021245) is a cancer with 5 GWAS associations across 8 studies and 25 clinical trials. Top therapeutic interventions include calcitriol, celecoxib, and dezocine. A subtype of mouth disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 5
• Clinical trials: 25

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oral cavity neoplasm
Mondo ID	MONDO:0021245
EFO	EFO:0003868
ICD-10-CM	C00-C14
NCIT	C7606
SNOMED CT	235075007
UMLS	C0026640
MedGen	7722
Anatomy (UBERON)	UBERON:0000167
Is cancer (heuristic)	yes

Also known as: mouth neoplasm · mouth tumor · mouth tumour · neoplasm of oral cavity · oral cavity neoplasm (disease) · oral cavity tumor · oral cavity tumour · tumor of oral cavity · tumour of mouth · tumour of oral cavity

Data availability: 5 GWAS associations (8 studies).

Disease family

This is a subtype of mouth disorder. 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 body system or component › mouth disorder › oral cavity neoplasm

Related subtypes (26): uvulitis, adenoid hypertrophy, oral hairy leukoplakia, salivary gland disorder, tongue disorder, alveolar periostitis, lip disorder, oral Crohn disease, maxillary sinusitis, oral candidiasis, oral tuberculosis, Ludwig’s angina, maxillary sinus cholesteatoma, burning mouth syndrome, oral leukoedema, tooth disorder, commissural lip fistula, oral submucous fibrosis, florid cemento-osseous dysplasia, neoplasm of floor of mouth, polyp of maxillary sinus, neoplasm of jaw, osteoradionecrosis of the mandible, odontoma, lichen planus, oral, mouth mucosa disorder

Subtypes (3): palatal neoplasm, oral cavity cancer, benign neoplasm of oral cavity

Genetics & variants

GWAS landscape

5 GWAS associations across 8 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs142560304	2e-11	PDE2A-AS1, PDE2A	A	3.03
rs75256987	2e-09	LINC02571 - HLA-B	?	1.32
rs401775	1e-08	SKIC2	?	1.34
rs9267798	2e-08	TNXB	?	0.76
rs80070596	3e-07	RMDN2, RMDN2-AS1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477166	Verma A	2024	4,538	444,158	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652072	Liu TY	2025	2,434	231,112	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90269972	Bau DT	2023	1,529	44,572	A Genome-Wide Association Study Identified Novel Genetic Susceptibility Loci for Oral Cancer in Taiwan.
GCST90477165	Verma A	2024	778	120,611	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479776	Verma A	2024	778	120,611	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435568	Zhou W	2018	643	406,821	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90481474	Verma A	2024	297	59,431	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST001480	Bhatnagar R	2012	55	0	Genome-wide disease association study in chewing tobacco associated oral cancers.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	1

Functional consequences

Consequence	Count
intron_variant	5

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs142560304	11	72657712	A>C	0	intron_variant	PDE2A-AS1, PDE2A	2e-11	Tier 4: intronic/intergenic
rs75256987	6	31353786	A>C	0.05	intron_variant	LINC02571 - HLA-B	2e-09	Tier 4: intronic/intergenic
rs401775	6	31963360	T>C	0.05	intron_variant	SKIC2	1e-08	Tier 4: intronic/intergenic
rs9267798	6	32077057	G>C	0.05	intron_variant	TNXB	2e-08	Tier 4: intronic/intergenic
rs80070596	2	38060668	G>A		intron_variant	RMDN2, RMDN2-AS1	3e-07	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 for this disease

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

Drug	Development status
Carboplatin	Phase 3 (in late-stage trials)
Cisplatin	Phase 3 (in late-stage trials)
Erlotinib	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aspirin, Cetuximab, Doxorubicin, Paclitaxel, Pembrolizumab, Quercetin, Trametinib.

Clinical trials & evidence

Clinical trials

Clinical trials: 25.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	11
Not specified	9
PHASE1/PHASE2	2
PHASE3	1
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00193843	PHASE3	UNKNOWN	Oral Cancer Adjuvant Therapy (OCAT) Trial
NCT00412776	PHASE2/PHASE3	TERMINATED	Study of Proxinium Plus Best Supportive Care Versus Best Supportive Care for Patients With Advanced Head and Neck Cancer
NCT02290145	PHASE2	RECRUITING	Cyclin D1 Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at Clinical N2 Stage
NCT06848439	PHASE2	NOT_YET_RECRUITING	Benmelstobart-Anlotinib-Chemo for Neoadjuvant Oral Cancer
NCT07400094	PHASE2	NOT_YET_RECRUITING	Neoadjuvant Chemoimmunotherapy (Camrelizumab + Paclitaxel + Carboplatin) for Resectable HNSCC
NCT00272181	PHASE2	TERMINATED	Study of Proxinium for Treating Patients With Squamous Cell Head and Neck Cancer
NCT00721799	PHASE2	COMPLETED	F-18 Fluorothymidine PET Imaging for Early Evaluation of Response to Therapy in Head & Neck Cancer Patients
NCT00953849	PHASE1/PHASE2	COMPLETED	Vitamin D Plus Celecoxib Therapy to Stimulate Intratumoral Immune Reactivity
NCT01195922	PHASE1/PHASE2	COMPLETED	Rapamycin Therapy in Head and Neck Squamous Cell Carcinoma
NCT01216020	PHASE2	TERMINATED	Cetuximab Plus Radiotherapy Versus Cisplatin Plus Radiotherapy in Locally Advanced Head and Neck Cancer
NCT01553851	PHASE2	COMPLETED	GSK1120212 in Surgically Resectable Oral Cavity Squamous Cell Cancer
NCT02285530	PHASE2	UNKNOWN	GDF15 Based TPF Induction Chemotherapy for OSCC Patients
NCT02285543	PHASE2	TERMINATED	A Phase II Trial of TPF Induction Chemotherapy in cN2 OSCC Patients
NCT02917629	PHASE2	TERMINATED	ACTOplus Met XR in Treating Patients With Stage I-IV Oral Cavity or Oropharynx Cancer Undergoing Definitive Treatment
NCT04065737	PHASE2	UNKNOWN	Sintilimab to Prevent High-risk Oral Premalignant Lesions Cancerization
NCT01649349	EARLY_PHASE1	COMPLETED	The Feasibility Study of Dual-Section Nasogastric Tube
NCT01269190	Not specified	RECRUITING	Wide-Field and High Resolution In Vivo Imaging in Visualizing Lesions in Patients With Oral Neoplasia Undergoing Surgery
NCT05296941	Not specified	RECRUITING	Oral Cancer Screening for Early Detection of Premalignant Disorders (PMOD)
NCT05774483	Not specified	RECRUITING	Sentinel Node Biopsy Versus Limited Elective Neck Dissection in Early Cancers of Oral Cavity NoDe Negative
NCT07401641	Not specified	RECRUITING	Effect of Dezocine Versus Nalbuphine Combined With Sufentanil on Postoperative Analgesia, Complications, and Free Flap Survival in Patients Undergoing Oral Cancer Radical Surgery: A Randomized Controlled Clinical Trial.
NCT00341497	Not specified	COMPLETED	Biomarkers for Oral Cancer
NCT01104714	Not specified	COMPLETED	Pharmacogenetic Response to Chemotherapy Induction for ORL Cancers
NCT02604121	Not specified	COMPLETED	Cytological Screening for Early Diagnosis of Precancerous or Cancerous Lesions of Oral Cavity
NCT04009811	Not specified	COMPLETED	A New Membrane Obturator Prothesis Concept for Soft Palate Defects
NCT06231537	Not specified	COMPLETED	Visual Oral Examination for Early Detection of Oral Cancer in High-Risk Individuals

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CALCITRIOL	4	1
CELECOXIB	4	1
DEZOCINE	4	1
NALBUPHINE	4	1
TRAMETINIB	4	1
OPORTUZUMAB MONATOX	3	2
SINTILIMAB	3	1
H11 SCFV	2	2
PROFLAVINE	2	1