The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity

Table 3 Germline burden of rare (including novel) genetic variants and the risk of developing severe fluoropyrimidine-related toxicity

Gene	Mean number of mutations per 100 patients*			Patients with mutations					OR (95% CI)^a	P value	Cycle ≤ 1
	Toxicity		M-W test (P)	Toxicity				Fisher’s exact test (P)			OR (95% CI)^a	P
	No	Yes		No		Yes
	No	Yes		n	(%)	n	(%)
All variants
DPYS	4.2	13.4	0.047	4	(4.2)	10	(12.2)	0.055	4.08 (1.15–14.49)	0.030	4.21 (0.83–21.33)	0.082
All variants deleterious
PPARD	1.0	2.4	0.472	1	(1.0)	2	(2.4)	0.595	1.48 (0.12–17.73)	0.759	1.54 (0.08–31.18)	0.777

The risk of acute toxicity (cycle ≤ 1) was also considered
^aOdds ratio (OR) and corresponding 95% confidence intervals (CI) were estimated from multinomial regression model, adjusting for sex, age, cancer site, treatment setting, and fluoropyrimidines
* (Number of genetic variants/total number of patients)*100

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