Table 1 Frequency of somatic mutation at the central base of trinucleotide sequences in AML patients at presentation (before Ara-C treatment) and relapse (post-Ara-C treatment)

From: Cytarabine preferentially induces mutation at specific sequences in the genome which are identifiable in relapsed acute myeloid leukaemia

Trinucleotide sequence ^a	n (%)^b		OR ^c	95% CI ^c	P-value^c
	Pres	Rel
^5′ApApA^3′/^5′TpTpT^3′	97 (2.7)	12 (2.7)	0.89	0.47–1.66	0.709
^5′ApApC^3′/^5′GpTpT^3′	55 (1.5)	6 (1.3)	0.81	0.34–1.94	0.636
^5′ApApG^3′/^5′CpTpT^3′	79 (2.2)	9 (2.0)	0.9	0.44–1.84	0.766
^5′ApApT^3′/^5′ApTpT^3′	117 (3.3)	15 (3.3)	0.92	0.53–1.62	0.78
^5′ApCpA^3′/^5′TpGpT^3′	209 (5.8)	28 (6.2)	0.97	0.64–1.47	0.876
^5′ApCpC^3′/^5′GpGpT^3′	118 (3.3)	8 (1.8)	0.51	0.25–1.07	0.074
^5′ApCpG^3′/^5′CpGpT^3′	408 (11.4)	39 (8.6)	0.9	0.63–1.29	0.567
^5′ApCpT^3′/^5′ApGpT^3′	137 (3.8)	19 (4.2)	0.94	0.57–1.56	0.816
^5′CpApA^3′/^5′TpTpG^3′	39 (1.1)	4 (0.9)	0.7	0.24–1.99	0.499
^5′CpApC^3′/^5′GpTpG^3′	32 (0.9)	5 (1.1)	1.33	0.50–3.55	0.567
^5′CpApG^3′/^5′CpTpG^3′	74 (2.1)	9 (2.0)	0.94	0.45–1.94	0.861
^5′CpApT^3′/^5′ApTpG^3′	95 (2.6)	10 (2.2)	0.65	0.33–1.29	0.217
^5′CpCpA^3′/^5′TpGpG^3′	115 (3.2)	14 (3.1)	0.86	0.79–1.53	0.615
^5′CpCpC^3′/^5′GpGpG^3′	98 (2.7)	10 (2.2)	0.68	0.35–1.34	0.271
^5′CpCpG^3′/^5′CpGpG^3′	221 (6.2)	28 (6.2)	1.34	0.87–2.05	0.184
^5′CpCpT^3′/^5′ApGpG^3′	162 (4.5)	16 (3.5)	0.65	0.38–1.10	0.11
^5′GpApA^3′/^5′TpTpC^3′	53 (1.5)	7 (1.5)	0.82	0.36–1.85	0.633
^5′GpApC^3′/^5′GpTpC^3′	38 (1.1)	3 (0.7)	0.56	0.17–1.83	0.334
^5′GpApG^3′/^5′CpTpC^3′	43 (1.2)	8 (1.8)	1.34	0.61–2.96	0.469
^5′GpApT^3′/^5′ApTpC^3′	53 (1.5)	8 (1.8)	1.33	0.60–2.91	0.482
^5′GpCpA^3′/^5′TpGpC^3′	112 (3.1)	14 (3.1)	0.92	0.51–1.64	0.773
^5′GpCpC^3′/^5′GpGpC^3′	81 (2.3)	16 (3.5)	1.43	0.81–2.53	0.221
^5′GpCpG^3′/^5′CpGpC^3′	233 (6.5)	19 (4.2)	0.8	0.49–1.32	0.389
^5′GpCpT^3′/^5′ApGpC^3′	144 (4.0)	10 (2.2)	0.5	0.26–0.96	0.037
^5′TpApA^3′/^5′TpTpA^3′	60 (1.7)	18 (4.0)	1.9	1.08–3.33	0.025
^5′TpApC^3′/^5′GpTpA^3′	40 (1.1)	5 (1.1)	0.99	0.38–2.57	0.979
^5′TpApG^3′/^5′CpTpA^3′	39 (1.1)	17 (3.8)	3.43	1.86–6.32	<0.001
^5′TpApT^3′/^5′ApTpA^3′	90 (2.5)	8 (1.8)	0.58	0.28–1.21	0.146
^5′TpCpA^3′/^5′TpGpA^3′	111 (3.1)	22 (4.9)	2.17	1.30–3.61	0.003
^5′TpCpC^3′/^5′GpGpA^3′	105 (2.9)	11 (2.4)	0.88	0.46–1.70	0.713
^5′TpCpG^3′/^5′CpGpA^3′	175 (4.9)	13 (2.9)	0.7	0.38–1.26	0.23
^5′TpCpT^3′/^5′ApGpA^3′	154 (4.3)	41 (9.1)	2.55	1.73–3.76	<0.001
Total	3587 (100)	452 (100)

Abbreviations: CI, confidence interval; n, total number of mutants analysed; Pres, presentation; Rel, relapse; OR, odds ratio.
The Ara-C target sequence (^5′TpCpA^3′/^5′TpGpA^3′) is highlighted in bold. For this triplet sequence, binomial logistic regression analysis of data from eight patients with exclusion of a single case at each iteration, retained significance in all instances (P<0.050), demonstrating that the association was not solely due to any one patient.
^aMutations at the central base position in any given trinucleotide sequence (the mutated base and 1 base 5′ and 3′ of the mutated base) were grouped with mutations in their complement sequence.
^bData is presented as the number of base substitution mutations at the central position of each trinucleotide from a total of 3587 at presentation and 452 at relapse from a total of 8 patients. Numbers in parentheses indicate mutation at each trinucleotide as a percentage of the total in the pooled dataset.
^cOR, 95% CI and associated P-values were calculated using binomial regression analysis of data from the 8 individual patients comprising the dataset (see Supplementary Table S3).

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Table 1 Frequency of somatic mutation at the central base of trinucleotide sequences in AML patients at presentation (before Ara-C treatment) and relapse (post-Ara-C treatment)

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