Table 3 Allelic variant frequency stratified by BRCA status

Gene	SNP	Amino acid	Change	Codon	Allele	Total cases	%	*BRCA1*	%	*BRCA2*	%	BRCAX	%	General population
APC	Rs143638171	1129	L/S	tTg/tCg	CT	1	2.1	0	0.0	1	5.9	0	0.0	0.5–1.4
					CC	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
	Rs137854579	1307	I/K	aTa/aAa	TA	1	2.1	0	0.0	0	0.0	1	3.6	0.1–5.0
					AA	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
	Rs1801166	1317	E/Q	Gaa/Caa	GC	3	6.3	0	0.0	1	5.9	2	7.1	1.7–2.3
					CC	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
	Rs41115	1493	T	acG/acA	GA	21	43.8	1	33.3	9	52.9	11	39.3	48.60
					AA	23	47.9	1	33.3	6	35.3	16	57.1	34.50
ATM	Rs 1800056	858	F/L	Ttt/Ctt	CT	3	6.3	0	0.0	2	11.8	1	3.6	1.9–3.5
					CC	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
EGFR	Rs142455912	1697	T/A	Acc/Gcc	Ag	1	2.1	0	0.0	0	0.0	1	3.6	0.20
					GG	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
	Rs121913427	746	E/Q	Gaa/Caa	GC	1	2.1	0	0.0	0	0.0	1	3.6	NA
					CC	0	0.0	0	0.0	0	0.0	0	0.0	NA
ERBB4	Rs149498255	611	D/N	Gat/Aat	GA	1	2.1	0	0.0	1	5.9	0	0.0	NA
					AA	0	0.0	0	0.0	0	0.0	0	0.0	NA
KDR	Rs1870377	472	Q/H	caA/caT	AT	8	16.7	0	0.0	3	17.6	5	17.9	1.7–45
					TT	4	8.3	0	0.0	2	11.8	2	7.1	50–78.3
KIT	Rs147943899	74	T/M	aCg/aTg	CT	1	2.1	0	0.0	0	0.0	1	3.6	<0.1
					TT	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
	Rs 3822214	541	M/L	Atg/Ctg	AC	3	6.3	0	0.0	1	5.9	2	7.1	7.1–23.3
					CC	1	2.1	0	0.0	1	5.9	0	0.0	2.0–3.4
MET	Rs 33917957	375	N/S	aAc/aGc	AG	2	4.2	0	0.0	0	0.0	2	7.1	4–4.2
					GG	0	0.0	0	0.0	0	0.0	0	0.0	2.10
	Rs 56391007	1010	T/I	aCt/aTt	CT	1	2.1	0	0.0	0	0.0	1	3.6	2.40
					TT	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
PDGFRA	Rs 2228230	824	V	atC/gtT	CT	15	31.3	0	0.0	7	41.2	8	28.6	15.3–50
					TT	0	0.0	0	0.0	0	0.0	0	0.0	2.3–15.9
RET	Rs 77711105	648	V/I	Gtc/Atc	GA	1	2.1	0	0.0	1	5.9	0	0.0	0.20
					AA	0	0.0	0	0.0	0	0.0	0	0.0	<0.1
STK11	Rs 59912467	354	F/L	ttC/ttG	CG	1	2.1	0	0.0	0	0.0	1	3.6	NA
					GG	0	0.0	0	0.0	0	0.0	0	0.0	NA
TP53	Rs1042522	72	P/R	cCc/cGc	CG	2	4.2	1	33.3	0	0.0	1	3.6	30–43.6
					GG	18	37.5	0	0.0	7	41.2	11	39.3	11.9–61.7

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