Tumors from pediatric patients generally contain relatively few somatic mutations. A new study reports a striking exception in individuals in whom biallelic germline deficiency for mismatch repair is compounded by somatic loss of function in DNA proofreading polymerases, resulting in 'ultra-hypermutated' malignant brain tumors.
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Wimmer, K. et al. J. Med. Genet. 51, 355–365 (2014).
Shlien, A. et al. Nat. Genet. 47, 257–262 (2015).
Schlussel, A.T. et al. J. Gastrointest. Oncol. 5, 326–335 (2014).
Palles, C. et al. Nat. Genet. 45, 136–144 (2013).
Wang, Q. et al. Cancer Res. 59, 294–297 (1999).
Ricciardone, M.D. et al. Cancer Res. 59, 290–293 (1999).
Cancer Genome Atlas Network. Nature 487, 330–337 (2012).
Yoshida, R. et al. Eur. J. Hum. Genet. 19, 320–325 (2011).
Zhao, S. et al. Proc. Natl. Acad. Sci. USA 110, 2916–2921 (2013).
Church, D.N. et al. Hum. Mol. Genet. 22, 2820–2828 (2013).
Kandoth, C. et al. Nature 497, 67–73 (2013).
Alexandrov, L.B. et al. Nature 500, 415–421 (2013).
Williams, L.N., Herr, A.J. & Preston, B.D. Genetics 193, 751–770 (2013).
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Waterfall, J., Meltzer, P. Avalanching mutations in biallelic mismatch repair deficiency syndrome. Nat Genet 47, 194–196 (2015). https://doi.org/10.1038/ng.3227
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DOI: https://doi.org/10.1038/ng.3227
