Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Table 3 Observed BRCA 2 variants in breast cancer cases diagnosed before age 40 in the ABCFS.

Variant	rs number	Codon	MAF	HWE	Deleterious mutation?
478 C > T		Q84X	0.003	1.000	Yes
1342 A > C	rs6004238	N372H	0.318	0.000	No
3642 A > G	rs1801406	K1132K	0.131	0.033	No
4035 T > C	rs543304	V1269V	0.117	0.038	No
4075 del GT			0.003	1.000	Yes
4856 del A			0.003	1.000	Yes
5638 del GT			0.003	1.000	Yes
5803 del ATTA			0.003	1.000	Yes
6174 del T			0.003	1.000	Yes
6503 del TT			0.006	1.000	Yes
7405 ins A			0.003	1.000	Yes
7470 A > G	rs1799955	S2414S	0.103	0.050	No
9097 C > T		Q2957X	0.003	1.000	Yes
9132 del C			0.003	1.000	Yes
9504 T > G		T3092X	0.003	1.000	Yes

ISSN: 1471-2407