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 4 Comparison of individual BRCA1 variant frequencies

Variant	rs number	Codon Change	Deleterious mutation non- carriers	Deleterious mutation carriers	Chi square (Permutation)	P value (Permutation)
1186 A > G	rs1799950	Q356R	0.054	0.107	0.180	0.671
2196 G > A	rs4986850	D693N	0.060	0.071	0.000	1.000
3232 A > G	rs16941	E1038G	0.189	0.357	3.945	0.047
4427 T > C	rs1060915	S1436S	0.228	0.321	0.146	0.702
Overall					4.541	0.338

ISSN: 1471-2407