Table 3 Observed sequence variation in the intron regions of ATR
From: Mutation analysis of the ATRgene in breast and ovarian cancer families
Location | Nucleotide change | Carrier frequency | P | Statusa | |
|---|---|---|---|---|---|
Familial cases | Controls | ||||
IVS2-51 | A>T | 9.5% (12/126) | 9.0% (9/100) | 0.89 | Novel |
IVS16-26 | T>A | 2.4% (3/126) | 4.3% (13/300) | 0.41 | Novel |
IVS18-22 | G>C | 4.8 % (6/126) | 4.0% (12/300) | 0.72 | Novel |
IVS24-48 | G>A | 2.4% (3/126) | - (0/300) | 0.03 | Novel |
IVS26+15 | C>T | 0.8% (1 /126) | - (0/300) | 0.30 | Novel |
IVS31-74 | G>A | 8.7% (11/126) | 4.3% (13/300) | 0.07 | Novel |