Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

    March 2012 in “ The American Journal of Human Genetics ”
    Akio Tanaka, Sarah Weinel, Nikoletta Nagy, Mark O’Driscoll, Joey E. Lai‐Cheong, Carol L. Kulp‐Shorten, Alfred L. Knable, Gillian Carpenter, Sheila Fisher, Makiko Hiragun, Yuhki Yanase, Michihiro Hide, Jeffrey P. Callen, John A. McGrath
    TLDR A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
    The study identified a germline mutation in the ATR gene (c.6431A>G [p.Gln2144Arg]) associated with an autosomal-dominant oropharyngeal cancer syndrome in a five-generation Caucasian family from Indiana, USA, affecting 24 individuals. This mutation, located in the FAT domain of ATR, did not reduce ATR expression but resulted in lower p53 levels after ATR activation, leading to increased cancer susceptibility. The findings suggested that ATR plays a crucial role in maintaining genomic stability, and its mutation could lead to cancer predisposition. The study highlighted the importance of genetic screening for early detection and prevention in at-risk families and suggested that viral infections might play a role in the development of oropharyngeal cancer.
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