Table 2.

Odds ratios for DCIS for Polish founder variants in CHEK2, PALB2, NBN and RECQL with corresponding p-values

Gene	Mutation	Cases N = 564		Controls^a			OR	95%CI	P-value
Gene	Mutation	Positive	%	Positive	Total	%	OR	95%CI	P-value
CHEK2	c444 + 1G > A	7	1.2	14	4346	0.3	3.9	1.3–10.3	0.007
	c.1100delC	1	0.2	7	4346	0.2	1.1	0.02–8.6	1.0
	del5395	6	1.1	16	4346	0.4	2.9	0.9–7.9	0.03
	Any truncating mutation^b	14	2.5	37	4346	0.9	3.0	1.5–5.7	0.001
	c.470T > C missense variant	40	7.1	215	4346	4.9	1.5	1.05–2.1	0.04
	Any CHEK2 mutation^c	52	9.2	252	4346	5.8	1.7	1.2–2.3	0.003
PALB2	c.509_510delGA	1	0.2	7	4702	0.1	1.2	0.03–9.3	0.6
	c.172_175delTTGT	0	0.0	3	4702	0.1	-	-	1.0
	Any PALB2 mutation^d	1	0.2	10	4702	0.2	0.8	0.2–5.9	1.0
NBN	c.657_661delACAAA	4	0.7	22	4000	0.6	1.3	0.3–3.8	0.6
RECQL	c.1667_1667 + 3del AGTA	0	0.0	2	4702	0.04	-	-	1.0

^aMutation frequencies in 4000 to 4702 Polish cancer-free controls (for different variants) were derived from our previous studies [10, 14, 16, 38]

^bc444+1G>A or c.1100delC or del5395

^cc444+1G>A or c.1100delC or del5395 or c.470T>C

^dc.509_510delGA or c.172_175delTTGT