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. Author manuscript; available in PMC: 2014 Dec 1.
Published in final edited form as: Leukemia. 2013 Dec 5;28(6):1242–1251. doi: 10.1038/leu.2013.368

Table 1.

Somatic Sequence Variants in DNA Repair and Response Genes in t-AML

UPN Gene Amino Acid Change Pathway
860923 EME1 p.L549V HR
751407 RAD51D p.S144Y HR
377512 TP53 p.R273C DDR
530447 TP53 p.R248Q DDR
942008 TP53 p.R175H DDR
189941 TP53 del of aa 225–3311 DDR
1

3 kb deletion of exons 7–9 homozygous in the tumor secondary to UPD, ref (16)

HR, homologous recombination; DDR, DNA damage response