Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Table 2 Observed BRCA1 variants in breast cancer cases diagnosed before age 40 in the ABCFS.

Variant	rs number	Codon	MAF	HWE	Deleterious mutation?
188 del 11		C24X	0.001	1.000	Yes
189 del 11			0.003	1.000	Yes
546 G > T		E143X	0.001	1.000	Yes
1186 A > G	rs1799950	Q356R	0.056	0.557	No
1876 del C			0.001	1.000	Yes
2196 G > A	rs4986850	D693N	0.060	0.461	No
2201 C > T	rs1799949	S694S	0.227	0.000	No
2430 T > C	rs16940	L771L	0.218	0.000	No
2594 del C			0.001	1.000	Yes
2731 C > T	rs799917	P871L	0.231	0.000	No
2800 del AAG			0.001	1.000	Yes
3232 A > G	rs16941	E1038G	0.195	0.000	No
3415 del C			0.001	1.000	Yes
3667 A > G	rs16942	K1183R	0.231	0.000	No
3875 del GTCT			0.001	1.000	Yes
3888 del GAG			0.001	1.000	Yes
4184 del TCAA			0.003	1.000	Yes
4427 T > C	rs1060915	S1436S	0.231	0.000	No
4446 C > T	rs41293455	R1443X	0.001	1.000	Yes
4808 C > G		Y1563X	0.001	1.000	Yes
4956 A > G	rs1799966	S1613G	0.237	0.000	No
5382 ins C			0.003	1.000	Yes

ISSN: 1471-2407