Table 1
ATM alterations found in early onset breast cancer patients and controls
| Type | Exon | Nucleotide change | Predicted effect | No in breast cancer cases (n=94) | No in controls (n=140) |
|---|---|---|---|---|---|
| The odds ratio (OR) of the frequency of all ATM variants not known to be polymorphisms in the breast cancer cases compared with the controls is 18.4 (95% CI 2.6 to 798, p=0.0002). If only 2119T>C, IVS30−2A>G, and 4388T>C are counted as disease associated mutations (see text) then these variants are significantly over-represented in the cases compared with the controls (p=0.011 (two sided Fisher’s exact test). | |||||
| IVS refers to introns and nucleotides therein that are numbered such that the splice acceptor AG is numbered −2, −1 and the splice donor GT is numbered +1, +2. | |||||
| M: mutation. UV: variant of unknown biological significance. | |||||
| M | 15 | 2119T>C | S707P | 3 | 0 |
| M | 30 | IVS30−2A>G | Splicing defect | 1 | 0 |
| M | 31 | 4388T>G | F1463C | 1 | 0 |
| UV | 15 | 1960G>A | Q654K | 1 | 0 |
| UV | 20 | IVS20+28insA | Unknown | 1 | 0 |
| UV | 25 | IVS25−15insT | Unknown | 1 | 0 |
| UV | 56 | IVS56+23insT | Unknown | 1 | 0 |
| UV | 59 | IVS 59−20del4 | Unknown | 1 | 1 |
| UV | 63 | IVS63+24delTT | Unknown | 1 | 0 |
| Total | 11 | 1 | |||
