The objective of this proposal is to better understand the pathogenesis of head and neck squamous cell carcinomas (HNSCCs) for individuals with FA, in order to find practical and proactive preventive strategies to improve their quality of life. Specifically, this research aims to investigate the role of acetaldehyde (a reactive compound found in our environment, tobacco smoke, foods, beverages, formed upon alcohol consumption and as a result of the microbiome metabolism) in the increased incidence of oral cancer in FA patients. The goal of this work is to measure the overall exposure to acetaldehyde resulting from food and a low dose of alcohol and measure the corresponding acetaldehyde-derived DNA damage in the oral cavity of FA patients, while setting the stage to investigate the role of the oral microbiome in influencing this exposure.

Grant Conclusion (2024):

The initial goal of Dr. Balbo’s study was to analyze the deoxyribonucleic acid (DNA) damaging effects in the oral cavity after consumption of one alcoholic drink amongst individuals with Fanconi anemia (FA) compared to individuals who do not have FA. Due to recruitment challenges, Dr. Balbo’s team adjusted their study aims to focus on characterizing DNA damage at baseline by collecting mouthwash samples and oral swabs from individuals with FA to see if DNA damage would be higher in individuals with FA compared to controls. Dr. Balbo and her team collected oral cell DNA samples from five individuals with FA and performed untargeted and targeted analyses on these samples. These results revealed several adducts that were found only in the FA samples and several adducts that were higher in FA when compared to controls. This study will help individuals with FA because if individuals with FA are aware that certain exposures may be detrimental to their health, they can modify their lifestyles accordingly.