Table 1.
Abraxas sequence variants observed in comprehensive mutation screening of familial breast cancer patients. The following sequence information was used: ENSG00000163322 (genomic DNA, with the correction that rs60946531 is c.*347C>T), ENST00000321945 (mRNA), and ENSP00000369857 (protein). c.1082G>A and c.1117G>A: unselected cases (USC) and controls (CT) comprised patients from both Northern Finland and Northern Savo in Eastern Finland. FC, familial cases; OR, odds ratio; CI, confidence interval; ND, not determined.
| Location | Nucleotide change | Effect on protein | rs number or reference | Frequency of heterozygotes, % (n/N)
|
P (OR; 95% CI) | ||
|---|---|---|---|---|---|---|---|
| FC | USC | CT | |||||
| Intron 2 | c.179-34_-38 delAATTA | — | — | 0.8 (1/125) | ND | 2.0 (2/100) | 0.6 (0.4; 0.4–4.4) |
| Intron 3 | c.216-44T>C | — | (21) | 2.4 (3/125) | ND | 5.3 (21/400) | 0.2 (0.4; 0.1–1.5) |
| Intron 4 | c.282+46T>A | — | — | 0.8 (1/125) | ND | — (—/400) | 0.2 (—) |
| Intron 7 | c.682-14A>G | — | — | 0.8 (1/125) | ND | 0.5 (2/400) | 0.6 (1.6; 0.1–17.8) |
| Exon 9 | c.1042G>A | Ala348Thr | rs12642536 (20, 21) | 52.8 (66/125) | ND | 51.1 (92/180) | 0.8 (1.1; 0.7–1.7) |
| Exon 9* | c.1082G>A | Arg361Gln | — | 2.4 (3/125) | 0.1 (1/991) | — (—/868) |
FC versus CT: 0.002 (—) FC versus USC: 0.005 (24.3; 2.5–235.9) |
| Exon 9 | c.1117G>A | Asp373Asn | rs13125836 (20, 21) | 12.8 (16/125) | 16.5 (163/990) | 13.9 (121/868) | FC versus CT: 0.8 (0.9; 0.5–1.6) USC versus CT: 0.1 (1.2; 0.9–1.6) |
| Exon 9† | c.*249delG | — | rs34610900 | 53.6 (67/125) | ND | 47.7 (42/88) | 0.4 (1.3; 0.7–2.2) |
| Exon 9† | c.*347C>T | — | rs60946531 rs6825184 |
0.8 (1/125) | ND | — (—/88) | 1.0 (—) |
| Exon 9† | c.*575A>G | — | — | 7.2 (9/125) | ND | 5.7 (5/88) | 0.8 (1.3; 0.4–3.9) |
*
Carriers of c.1082G>A (in bold) also harbored the c.1042G>A and c.*249delG SNPs.
†
3′ Untranslated region change.