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Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.

Rose B McGeeNinad OakLynn HarrisonKe XuRegina NuccioAlise K BlakeRoya M MostafaviSara LewisLeslie M TaylorManish KubalAnnastasia OumaStacy J Hines-DowellCheng ChengLarissa V FurtadoKim E Nichols
Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
AoCPG variants are rare in pediatric tumors; however, many originate in the germline. Almost one third of aoCPG variants exhibit a second hit and/or confer an abnormal DNA mutational profile suggesting a role in tumor formation. AoCPG information aids in cancer risk prediction but is not commonly used to alter the treatment of pediatric cancers.
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