Table 1 Identified EMSY sequence alterations
From: Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families
Nucleotide change | Amino acid change | Position | rs number | Genotype distribution n (%)a | P-value | OR; 95% CI | |
|---|---|---|---|---|---|---|---|
Cases | Controls | ||||||
c.1108 + 40A > G | − | 76,183,924 | rs4245443 | 16/49/42 (15.0/45.8/39.3) | 54/182/137 (14.5/48.8/36.7) | 0.8 | 0.96; 0.70–1.31 |
c.1514-4G > A | − | 76,227,182 | rs2508740 | 15/50/42 (14.0/46.7/39.3) | 44/178/149 (11.9/48.0/40.1) | 0.7 | 1.07; 0.78–1.46 |
c.1685-14C > T | − | 76,234,185 | rs11600501 | 103/4/0 (96.3/3.7/0) | 366/11/0 (97.1/2.9/0) | 0.8 | 1.29; 0.41–4.08 |
c.1995 + 47delA | − | 76,237,726 | rs11363199 | 49/44/14 (45.8/41.1/13.1) | 168/168/41 (44.6/44.6/10.8) | 0.9 | 1.02; 0.74–1.41 |
c.2709 + 122delT | − | 76,253,530–76,253,533 | − | 106/1/0 (99.1/0.9/0) | 897/0/0 (100/0/0) | 0.1 | 25.28; 1.02–625.0 |
c.2861 T > G | p.Leu954Arg | 76,255,454 | rs184345272 | 104/2/0 (98.1/1.9/0) | 376/3/0 (99.2/0.8/0) | 0.3 | 2.40; 0.40–14.44 |
c.3648 T > C | p.Thr1216Thr | 76,257,215 | rs3753051 | 49/44/14 (45.8/41.1/13.1) | 166/165/41/ (44.6/44.4/11.0) | 0.9 | 1.02; 0.74–1.41 |
c.*343A > G | − | 76,261,533 | rs2513513 | 16/45/46 (15.0/42.1/43.0) | 55/186/139 (14.5/48.9/36.6) | 0.5 | 0.88; 0.64–1.21 |
c.*631C > G | − | 76,261,821 | rs148932730 | 105/2/0 (98.1/1.9/0) | 370/5/0 (98.7/1.3/0) | 0.7 | 1.41; 0.27–7.30 |
c.*744A > C | − | 76,261,934 | rs187735484 | 98/9/0 (91.6/8.4/0) | 331/45/0 (88.0/12.0/0) | 0.4 | 0.69; 0.33–1.44 |
c.*753G > C | − | 76,261,943 | rs72932407 | 99/8/0 (92.5/7.5/0) | 351/27/0 (92.9/7.1/0) | 0.8 | 1.05; 0.47–2.34 |
c.*938A > Gb | − | 76,262,128 | rs1044265 | 38/51/18 (35.5/47.7/16.8) | 351/417/128 (39.2/46.5/14.3) | 0.4 | 1.14; 0.85–1.52 |