Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

    February 2012 in “ The American Journal of Human Genetics ”
    Akio Tanaka, Sarah Weinel, Nikoletta Nagy … John A. McGrath
    Studysummary This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
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    Research cited in this study 1

    1. Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss Cell Stem Cell · 2007