Table 2.
Polymorphic variant frequencies among breast cancer cases (probands) from the US Radiologic Technologist Health Study
| Gene | Polymorphism* | Total** number | Common homozygote frequency | Heterozygote frequency | Rare homozygote frequency | |||
| n | % | n | % | n | % | |||
| Base Excision Repair Genes | ||||||||
| XRCC1 | R194W(rs1799782) | 748 | 664 | 88.8 | 82 | 11.0 | 2 | 0.3 |
| XRCC1 | R280H(rs25489) | 748 | 676 | 90.4 | 71 | 9.5 | 1 | 0.1 |
| XRCC1 | R399Q(rs25478) | 748 | 321 | 42.9 | 335 | 44.8 | 92 | 12.3 |
| APEX | Q51H(rs1048945) | 746 | 687 | 92.1 | 58 | 7.8 | 1 | 0.1 |
| APEX | D148E(rs1130409) | 745 | 219 | 29.4 | 387 | 51.9 | 139 | 18.7 |
| POLD1 | R119H(rs1726801) | 748 | 650 | 86.9 | 92 | 12.3 | 6 | 0.8 |
| BRCA1 interacting proteins | ||||||||
| BRCA2 | N289H(rs2421655) | 748 | 698 | 93.3 | 50 | 6.7 | 0 | 0.0 |
| BRCA2 | N372H(rs144848)*** | 747 | 405 | 54.2 | 274 | 36.7 | 68 | 9.1 |
| BRCA2 | T1915I(rs4987717) | 748 | 713 | 95.3 | 35 | 4.7 | 0 | 0.0 |
| BRIP1 | -64 G>A(rs2048718) | 748 | 211 | 28.2 | 370 | 49.5 | 167 | 22.3 |
| BRIP1 | P919S(rs4986764) | 745 | 268 | 36.0 | 355 | 47.7 | 122 | 16.4 |
| ZBRK1 | L66P(rs2278420) | 744 | 535 | 71.9 | 190 | 25.5 | 19 | 2.6 |
| ZBRK1 | S472P(rs4986771) | 748 | 694 | 92.8 | 52 | 7.0 | 2 | 0.3 |
| ZBRK1 | R501S(rs2278415) | 746 | 576 | 77.2 | 154 | 20.6 | 16 | 2.1 |
| ZBRK1 | 1845 C>T (rs4986770)*** | 747 | 640 | 85.7 | 107 | 14.3 | 0 | 0.0 |
| Growth factor genes | ||||||||
| TGFß1 | L10P(rs1982073) | 745 | 263 | 35.3 | 357 | 47.9 | 125 | 16.8 |
| TGFß1 | P25R(rs1800471) | 745 | 629 | 84.4 | 109 | 14.6 | 7 | 0.9 |
| TGFß1 | T263I(rs1800472) | 748 | 709 | 94.8 | 39 | 5.2 | 0 | 0 |
| IGFΒP3 | -202A>C(rs2854744) | 746 | 194 | 26.0 | 360 | 48.3 | 192 | 25.7 |
* Amino acids and their symbols: R: Arginine, W: Tryptophan, H: Histidine, Q: Glutamine, D: Aspartic Acid, E: Glutamic Acid, N: Asparagine, P: Proline, S: Serine, L: Leucine, I: Isoleucine, T: Threonine. dbSNP reference sequence number in parentheses. ** Numbers vary because not all the cases could be genotyped due to technical issues with the sample. Also some genotyped cases were dropped from kin-cohort analyses because telephone interviews had not been completed at the time of blood collection. *** Test for significant deviation from Hardy Weinberg Equilibrium, p = 0.05