Table 2 Frequencies of carriers of candidate FANCI variants identified in Australian HGSC cases and controls
| Â | Â | Â | Â | Number of variant carriers3 (%) | Â | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Study group1 | Number of subjects (%) | c.13A>G p.I5V | c.286G>A p.E96K | c.824 T>C p.I275T | c.1264G>A p.G422R | c.1412C>G p.P471R | c.1573A>G p.M525V | c.1813C>T p.L605F4 | c.2366C>T p.A789V4 | c.3635T>C p.F1212S | c.3812C>T p.S1271F | Total number of carriers4 (%) |
HGSC | 516 (100) | 1 (0.2) | 1 (0.2) | 1 (0.2) | 2 (0.4) | 1 (0.2) | 3 (0.6) | 10 (1.9) | 1 (0.2) | 1 (0.2) | 1 (0.2) | 21 (4.1) |
Controls | 4878 (100) | 0 | 5 (0.1) | 5 (0.1) | 7 (0.1) | 0 | 43 (0.88) | 95 (1.9) | 0 | 0 | 1 (0.02) | 156 (3.2) |
Family history of HGSC cases2 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
≥ 2 OC cases (no BC) | 7 (1) | 0 | 0 | 0 | 0 | 0 | 1 [14] | 0 | 0 | 0 | 0 | 1 (14) |
1 OC case (no BC) | 49 (10) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
≥ 2 OC case and BC cases | 42 (8) | 0 | 0 | 0 | 1 (2.4) | 1 (2.4) | 0 | 5 [12] | 1 (2.4) | 0 | 0 | 7 (17) |
Total with OC family history | 98 (19) | 0 | 0 | 0 | 1 (1) | 1 (1) | 1 (1) | 5 (5.1) | 1 (1) | 0 | 0 | 8 (8.2) |
≥ 2 BC cases (no OC) | 45 (9) | 0 | 0 | 0 | 0 | 0 | 1 (2.2) | 0 | 0 | 0 | 0 | 1 (2.2) |
1 BC case (no OC) | 125 (24) | 0 | 1 (0.8) | 1 (0.8) | 0 | 0 | 0 | 1 (0.8) | 0 | 0 | 0 | 3 (2.4) |
No OC or BC | 248 (48) | 1 (0.4) | 0 | 0 | 1 (0.4) | 0 | 1 (0.4) | 4 (1.6) | 0 | 1 (0.4) | 1 (0.4) | 9 (3.6) |
Total isolated HGSC | 418 (81) | 1 (0.2) | 1 (0.2) | 1 (0.2) | 1 (0.2) | 0 | 2 (0.5) | 5 (1.2) | Â | 1 (0.2) | 1 (0.2) | 13 (3.1) |