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Table 2 Polymorphic variant frequencies among breast cancer cases (probands) from the US Radiologic Technologist Health Study

From: Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes

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
  1. * 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