Table 3 Observed alterations in the RNF8,UBC13 and MMS2 genes in Finnish breast cancer families
From: Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families
Gene | Nucleotide change | rs number | Carrier frequency | P-value | |
|---|---|---|---|---|---|
Familial cases | Controls | (OR; 95% CI) | |||
RNF8 | RNF8ex1-36 C > T (5'-UTR) | - | 4.8% (6/123) | 1.9% (2/104) | 0.29 (2.6; 0.52-13.2) |
RNF8ex1-150 G > T (5'-UTR) | rs4714059 | 12.2% (15/123) | 19.2% (20/104) | 0.20 (0.58; 0.28-1.21) | |
RNF8ex1-134 C > G (5'-UTR) | rs195420 | 22.8% (28/123) | 18.3% (19/104) | 0.42 (1.32; 0.69-2.53) | |
RNF8ex4+17 A > G (intron) | rs77440008 | 1.6% (2/123) | 5.9% (16/273) | 0.07 (0.27; 0.06-1.17) | |
RNF8ex7-6 C > T (intron) | rs2284923 | 41.5% (51/123) | 46.7% (121/259) | 0.38 (0.81; 0.52-1.25) | |
RNF8ex7 G1344A (Thr448Thr) | rs2284922 | 36.6% (45/123) | 41.1% (111/270) | 0.44 (0.83; 0.53-1.28) | |
RNF8ex7 G1377A (Lys459Lys) | rs34150698 | 17.9% (22/123) | 19.3% (52/270) | 0.78 (0.91; 0.53-1.59) | |
UBC13 | UBC13ex3+17C > T (intron) | rs7969431 | 3.3% (4/123) | 4.7% (14/299) | 0.61 (0.68; 0.22-2.12) |
UBC13ex4-18 G > T (intron) | - | 1.6% (2/123) | 3.4% (10/297) | 0.52 (0.47; 0.10-2.20) | |
MMS2 | - | - | - | - | - |