Research on Rare Genetic Disease (Fanconi Anemia) Sheds Light on Common Head and Neck Cancer; Research Also Indicates Head and Neck Cancer Risk of Smoking and Alcohol Use; Aldehyde-Related DNA Damage & Significant Gene Copy Number Variation Seem at Fault

Agata Smogorzewska, MD, PhD
Like the New York City subway system, the DNA in our cells needs to operate around the clock—and it’s in constant need of repair. In any given cell at any given time, molecular processes are underway to seal cracks in the double-helix or proofread the genetic code, all part of a perpetual upkeep program that maintains the body’s status quo and staves off disease. Patients with the rare genetic disorder Fanconi anemia lack certain elements of this repair system, making their cells incapable of removing lesions created by DNA-damaging chemicals called aldehydes. And for reasons that have thus far been unclear, their risk for developing highly aggressive head-and-neck tumors is hundreds of times higher than that of other people. Now, research led by Rockefeller University physician-scientist Agata Smogorzewska, MD, PhD, explains why Fanconi anemia patients are vulnerable to this cancer, known as head and neck squamous cell carcinoma (HNSCC), and point the way for the development of new treatments. Published in Nature on November 30, 2022, the findings also shed new light on the mechanisms by which smoking and drinking may elevate anyone’s cancer risk, and suggest that people in this category might benefit from similar therapeutic approaches. The article is titled “Genomic Signature of Fanconi Anaemia DNA Repair Pathway Deficiency in Cancer.”
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