Skip to main content

Table 4 Comparison of individual BRCA1 variant frequencies

From: 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

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