Cheek mucosa cancer

Summary

Cheek mucosa cancer (MONDO:0004645) is a cancer with 12 GWAS associations across 2 studies and 3 clinical trials. A subtype of oral cavity cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 12
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cheek mucosa cancer
Mondo ID	MONDO:0004645
DOID	DOID:8702
NCIT	C9320
SNOMED CT	363386008
UMLS	C0153373
MedGen	57550
Anatomy (UBERON)	UBERON:0006956
Is cancer (heuristic)	yes

Also known as: buccal mucosa cancer · cancer of buccal mucosa · malignant buccal mucosa neoplasm · malignant buccal mucosa tumor · malignant buccal mucosa tumour · malignant neoplasm of buccal mucosa · malignant neoplasm of the buccal mucosa · malignant tumor of buccal mucosa · malignant tumor of the buccal mucosa · malignant tumour of buccal mucosa · malignant tumour of the buccal mucosa

Data availability: 12 GWAS associations (2 studies).

Disease family

This is a subtype of oral cavity 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 body system or component › digestive system disorder › digestive system cancer › oral cavity cancer › cheek mucosa cancer

Related subtypes (10): soft palate cancer, tongue cancer, salivary gland cancer, retromolar area cancer, hard palate cancer, vestibule of mouth cancer, gingival cancer, lip cancer, oral cavity carcinoma, oral rhabdomyosarcoma

Subtypes (1): squamous cell carcinoma of buccal mucosa

Genetics & variants

GWAS landscape

12 GWAS associations across 2 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs465498	4e-16	CLPTM1L	G	1.26
rs9271611	2e-10	HLA-DRB1 - HLA-DQA1	G	1.23
rs31490	5e-10	CLPTM1L	A	1.4
rs28430392	1e-09	HLA-DQA1 - HLA-DQB1	C	1.41
rs17427431	2e-09	HLA-DQB1 - MTCO3P1	A	0.65
rs9347170	4e-09	RNASET2 - MIR3939	C	1.31
rs7713218	4e-09	TERT	G	0.85
rs2523608	5e-09	HLA-B	G	0.84
rs10757260	1e-08	MTAP - CDKN2A-AS1	G	0.85
rs204295	2e-08	CEP43 - CCR6	C	1.16
rs9270352	3e-08	HLA-DRB1 - HLA-DQA1	A	0.68
rs62332591	3e-06	TERT	G	0.21

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90728578	Mhatre S	2025	2,698	5,984	A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions.
GCST90728577	Mhatre S	2025	2,046	2,153	A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	2
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	12
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	7
intergenic_variant	2
regulatory_region_variant	1
splice_region_variant	1
TF_binding_site_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs465498	5	1325688	A>C,G,T	0.361	intron_variant	CLPTM1L	4e-16	Tier 4: intronic/intergenic
rs9271611	6	32623832	A>G	0.38	regulatory_region_variant	HLA-DRB1 - HLA-DQA1	2e-10	Tier 3: regulatory
rs31490	5	1344343	G>A,T	0.209	splice_region_variant	CLPTM1L	5e-10	Tier 2: splice/UTR
rs28430392	6	32655773	A>C	0.214	intergenic_variant	HLA-DQA1 - HLA-DQB1	1e-09	Tier 4: intronic/intergenic
rs17427431	6	32695867	G>A,T	0.126	intergenic_variant	HLA-DQB1 - MTCO3P1	2e-09	Tier 4: intronic/intergenic
rs9347170	6	166991699	C>T	0.389	intron_variant	RNASET2 - MIR3939	4e-09	Tier 4: intronic/intergenic
rs7713218	5	1283197	A>C,G,T	0.495	intron_variant	TERT	4e-09	Tier 4: intronic/intergenic
rs2523608	6	31354782	G>A,C,T	0.364	intron_variant	HLA-B	5e-09	Tier 4: intronic/intergenic
rs10757260	9	21953138	G>A,T	0.368	intron_variant	MTAP - CDKN2A-AS1	1e-08	Tier 4: intronic/intergenic
rs204295	6	167087074	C>G,T	0.482	intron_variant	CEP43 - CCR6	2e-08	Tier 4: intronic/intergenic
rs9270352	6	32590264	G>A,C,T	0.184	TF_binding_site_variant	HLA-DRB1 - HLA-DQA1	3e-08	Tier 3: regulatory
rs62332591	5	1290204	T>A,C,G	0.38	intron_variant	TERT	3e-06	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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03137953	Not specified	UNKNOWN	Role of Imaging to Predict the Deep Surgical Margin in Gingivobuccal Complex Tumors
NCT03853655	Not specified	COMPLETED	Adjuvant Radiotherapy in Early Stage Oral Cancers
NCT05852665	Not specified	UNKNOWN	Buccal Cancer Resection Ultrasound Guided