Mutational Signatures May Define Oral Cancers

Researchers identified endogenous mutational and immune-response patterns in oral cancers arising without exposure to tobacco, alcohol, or human papillomavirus infections.

By
Andrea Surnit
May 26, 2026
3 min

MDSpire News

Objective:

To characterize the mutational and molecular profiles of oral cavity squamous cell carcinomas (OSCC) without traditional risk factors.

Key Findings:

94% of tumors with no identified risk factors were clustered in SBS1 and SBS1/APOBEC groups.
60% of tumors with no identified risk factors were in the SBS1 group.
Younger patients were overrepresented in the SBS1 cluster.
Mutations affecting immune-response genes were enriched in the SBS1 and SBS1/APOBEC clusters.

Interpretation:

Remove unsupported conclusions and interpretations.

Limitations:

The study was observational and did not identify specific environmental or infectious causes.
Lower mutation counts in some tumors may complicate mutational-signature assignment.
Validation experiments were limited to two oral tongue squamous cell carcinoma samples.
Cohort derived primarily from US public sequencing data sets may limit generalizability.