Journal article

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients

Kendrick Koo, Dmitri Mouradov, Christopher M Angel, Tim A Iseli, David Wiesenfeld, Michael J McCullough, Antony W Burgess, Oliver M Sieber

Cancers | MDPI | Published : 2021


Molecular alterations in 176 patients with oral squamous cell carcinomas (OSCC) were evaluated to delineate differences in non-smoking non-drinking (NSND) patients. Somatic mutations and DNA copy number variations (CNVs) in a 68-gene panel and human papilloma virus (HPV) status were interrogated using targeted next-generation sequencing. In the entire cohort, TP53 (60%) and CDKN2A (24%) were most frequently mutated, and the most common CNVs were EGFR amplifications (9%) and deletions of BRCA2 (5%) and CDKN2A (4%). Significant associations were found for TP53 mutation and nodal disease, lymphovascular invasion and extracapsular spread, CDKN2A mutation or deletion with advanced tumour stage, a..

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Awarded by National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

This study was supported by the Jack Tindall Bequest, the Price Family Foundation, an Australian and New Zealand Head and Neck Cancer Society Grant, an Independent Research Institutes Infrastructure Support Scheme Grant and a Victorian State Government Operational Infrastructure Support Grant. K.K. was supported by a PhD scholarship from the Garnett Passe and Rodney Williams Memorial Foundation. O.M.S. is a National Health and Medical Research Council (NHMRC) Senior Research Fellows (APP1136119).