Table 1.
Observed germline alterations in the AATF gene in Finnish breast cancer families
| Carrier frequencya (%) | ||||||
|---|---|---|---|---|---|---|
| Exon/Intron | Nucleotide change | Effect on protein | Familial cases | Controls | P-value (OR, 95% CI) |
Previously known (+) or unknown (-) alteration |
| Ex 4 | c.739G>T | p.Ala247Ser | 1.7 (2/121) | 1.3 (4/317) | 0.70 (1.3, 0.2-7.1) | - |
| Int 3 | c.694+35A>C | None | 4.1 (5/121) | 9.1 (30/328) | 0.08 (0.4, 0.2-1.1) | +; RS: 8067751 |
| c.694+48T>G | None | 3.3 (4/121) | 0.9 (3/328) | 0.09 (3.7, 0.8-16.8) | - | |
| Int 4 | c.832+17C>T | None | 0.8 (1/121) | 0.3 (1/317) | 0.48 (2.6, 0.16-42.4) | - |
| c.832+39C>T | None | 0.8 (1/121) | - (0/317) | 0.28 (NA) | - | |
| Int 11 | c.1619+29A>C | None | 2.5 (3/121) | 0.3 (1/325) | 0.06 (8.2, 0.8-80.0) | - |
| Int 12 | c.1670+42C>T | None | 20.7 (25/121) | 23.5 (72/307) | 0.53 (0.9, 0.5-1.4) | +; RS:11653434 |
NA, not available; OR, odds ratio; CI, confidence interval; aHeterozygotes