Related Experiment Video
Updated: May 10, 2025
07:29
Intramucosal Inoculation of Squamous Cell Carcinoma Cells in Mice for Tumor Immune Profiling and Treatment Response Assessment
Published on: April 22, 2019
11.4K
Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma.
Rayan Nikkilä1,2,3, Antti Mäkitie1,3, Heikki Joensuu4
1Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
Head and Neck Pathology
|April 25, 2025
Summary
This genome-wide association study identified three significant genetic loci for oral tongue squamous cell carcinoma (OTSCC). Further research is needed to understand the genes involved in OTSCC development.
Area of Science:
- Genetics
- Oncology
Background:
- Oral tongue squamous cell carcinoma (OTSCC) is a significant subtype of head and neck cancer.
- Limited genome-wide association studies (GWAS) data exist for OTSCC, hindering the identification of its genetic underpinnings.
Purpose of the Study:
- To explore genetic associations for oral tongue squamous cell carcinoma (OTSCC) through a genome-wide association study (GWAS).
Main Methods:
- A GWAS was performed on 376 OTSCC cases from the FinnGen Data Freeze-12 dataset.
- Controls comprised 407,067 individuals without a history of malignancy.
- A Phenome-wide association study (PheWAS) was conducted on lead variants to assess co-associations with other cancers.
Main Results:
- Three genome-wide significant loci associated with OTSCC were identified at 5p15.33 (rs27067), 10q24 (rs1007771191), and 20p12.3 (rs1438070080).
- The lead variant rs27067 showed associations with prostate cancer and seborrheic keratosis, and a co-directional effect with melanoma.
Conclusions:
- The GWAS identified two novel genetic associations for OTSCC.
- Further investigation is required to pinpoint the specific genes at these loci contributing to OTSCC pathogenesis.
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