Article
Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma.
Proceedings of the National Academy of Sciences of the United States of America - 7 Sept 2021
van den Boogaard Marlinde L, Oka Rurika, Hakkert Anne, Schild Linda, Ebus Marli E, van Gerven Michael R, Zwijnenburg Danny A, Molenaar Piet, Hoyng Lieke L, Dolman M Emmy M, Essing Anke H W, Koopmans Bianca, Helleday Thomas, Drost Jarno, van Boxtel Ruben, Versteeg Rogier, Koster Jan, Molenaar Jan J
Abstract excerpt
Neuroblastomas are childhood tumors with frequent fatal relapses after induction treatment, which is related to tumor evolution with additional genomic events. Our whole-genome sequencing data analysis revealed a high frequency of somatic cytosine > adenine (C > A) substitutions in primary neuroblastoma tumors, which was associated with poor survival. We showed that increased levels of C > A substitutions...
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