Table 1. Results from the analysis of the enriched germline variants in 52 neuroblastoma patients.

	Neuroblastoma		1000g-Control-Ita			1000g-Control-Eur			House-Control-Ita
Gene	Patients with variants	Patients without variants	Controls with variants	Controls without variants	P-value	Controls with variants	Controls without variants	P-value	Controls with variants	Controls without variants	P-value	P-value combined population	Fold enrichment
BARD1*	4	100	0	107	0.057	0	396	0.002	0	106	0.058	0.0004	25.0
AXIN2	4	48	0	107	0.011	3	393	0.004	1	105	0.041	0.0019	12.6
MC1R	5	47	5	102	0.298	3	393	0.001	3	103	0.116	0.0056	5.8
CHEK2	3	49	0	107	0.034	3	393	0.023	0	106	0.034	0.0078	12.5
SLC25A13	2	50	0	107	0.106	2	394	0.068	0	106	0.107	0.0329	12.5
CD96	1	51	0	107	0.327	1	395	0.219	0	106	0.329	0.1513	12.3
FH	1	51	0	107	0.327	0	396	0.116	1	105	0.551	0.1513	12.3
XRRC3	1	51	0	107	0.327	1	395	0.219	0	106	0.329	0.1513	12.3
APC	2	50	2	105	0.597	7	389	0.281	1	105	0.252	0.2421	2.4
RAD50	1	51	0	107	0.327	2	394	0.310	2	104	1.000	0.337	3.0
BRCA2	1	51	1	106	0.549	3	393	0.391	1	105	0.551	0.3896	2.4
SLX4	1	51	0	107	0.327	5	391	0.525	0	106	0.329	0.3896	2.4
FANCM	1	51	1	106	0.549	3	393	0.391	3	103	1.000	0.4827	1.7
PALB2	1	51	5	102	0.665	2	394	0.310	2	104	1.000	0.5619	1.3

In bold germline variants significantly enriched in the neuroblastoma patients.

Enrichment of germline MC1R and SLC25A13 variants is considered not to be significant in neuroblastoma as no associaiton was found when using Italian controls.

^*Data from 52 whole exome sequencing and 52 deep targeted sequencing of germilne DNA from neuroblastoma patients.

P-values calculated using 2-tailed Fisher's exact test.