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Table 3 Cumulative breast cancer risk ratios to age 50 and to age 70 by genotype among 2430 first degree female relatives of breast cancer cases (probands), 190 of whom were reported to have breast cancer

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

  Rare allele frequency To age 50 To age 70
Polymorphism*   N** RR 95% CI p-value N** RR 95% CI p-value
Base excision repair genes          
XRCC1 R194W 0.06         
   RR   51 1.0 ---   125 1.0 ---  
   RW or WW   6 1.4 0.4–4.2 0.408 22 2.3 1.3–3.8 0.004
XRCC1 R280H 0.03         
   RR   52 1.0 ---   134 1.0 ---  
   RH or HH   5 0.7 0.0–2.4 0.736 13 1.2 0.5–2.5 0.522
XRCC1 R399Q 0.37         
   RR   21 1.0 ---   59 1.0 ---  
   RQ   22 0.7 0.1–2.0 0.444 64 1.1 0.4–1.6 0.636
   QQ   14 3.4 1.3–9.3 0.014 24 1.9 1.1–3.9 0.010
APEX Q51H 0.04         
   QQ   49 1.0 ---   134 1.0 ---  
   QH or HH   7 3.0 0.5–6.7 0.216 12 1.7 0.7–3.1 0.236
APEX D148E 0.49         
   DD   20 1.0 ---   49 1.0 ---  
   DE   27 0.2 0.1–0.8 0.028 65 0.2 0.1–0.5 <0.001
   EE   9 0.8 0.2–1.9 0.546 32 1.0 0.6–1.7 0.860
POLD1 R119H 0.06         
   RR   44 1.0 ---   123 1.0 ---  
   RH or HH   13 2.5 0.8–5.0 0.106 24 1.8 1.0–2.9 0.058
BRCA1 interacting proteins          
BRCA2 N289H 0.03         
   MM   57 1.0 ---   141 1.0 ---  
   NH or HH   0 0 --- ---- 6 1.6 0.5–2.9 0.370
BRCA2 N372H 0.32         
   NN   30 1.0 ---   89 1.0 ---  
   NH   23 0.4 0.1–1.3 0.140 42 0.2 0.1–0.5 <0.001
   HH   4 1.5 0.4–4.4 0.322 16 1.3 0.8–2.4 0.232
BRCA2 T1915M 0.05         
   TT   53 1.0 ---   139 1.0 ---  
   TM or MM   4 1.7 0.0–4.0 0.664 8 2.1 0.6–3.6 0.215
BRIP1 -64 G>A 0.46         
   GG   17 1.0 ---   42 1.0 ---  
   GA   24 0.4 0.1–1.2 0.126 70 0.7 0.2–1.2 0.112
   AA   16 1.5 0.5–4.3 0.424 35 1.6 0.8–2.8 0.218
BRIP1 P919S 0.43         
   PP   10 1.0 ---   52 1.0 ---  
   PS   34 4.5 0.8–12.2 0.096 69 0.6 0.3–1.2 0.134
   SS   12 6.9 1.6–29.3 0.018 25 1.3 0.8–2.8 0.220
ZBRK1 L66P 0.15         
   LL   43 1.0 ---   108 1.0 ---  
   LP or PP   14 0.9 0.3–2.0 0.712 38 1.2 0.7–1.9 0.304
ZBRK1 S472P 0.12         
   SS   55 1.0 ---   137 1.0 ---  
   SP or PP   2 0.8 0.0–2.2 0.614 10 1.6 0.6–2.9 0.312
ZBRK1 R501S 0.12         
   RR   46 1.0 ---   116 1.0 ---  
   RS or SS   11 0.8 0.2–1.8 0.534 31 1.2 0.7–2.1 0.434
ZBRK1 1845 C>T 0.06         
   CC   45 1.0 ---   121 1.0 ---  
   CT or TT   12 2.2 0.5–4.3 0.218 25 1.6 0.8–2.8 0.162
Growth factor genes          
TGFß1 L10P 0.38         
   LL   25 1.0 ---   54 1.0 ---  
   LP or PP   31 0.5 0.2–1.2 0.148 92 0.8 0.5–1.5 0.536
TGFß1 P25R 0.10         
   PP   48 1.0 ---   126 1.0 ---  
   PR or RR   8 1.0 0.1–3.1 0.952 20 1.2 0.6–2.1 0.554
TGFß1 T263I 0.04         
   TT   54 1.0 ---   138 1.0 ---  
   TI or II   3 2.1 0.0–4.9 0.492 9 1.7 0.6–3.1 0.312
IGFBP3 -202 A>C 0.53***         
   AA   11 1.0 ---   36 1.0 ---  
   AC or CC   45 1.0 0.3–3.5 0.848 110 0.7 0.4–1.3 0.228
  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. ** Numbers represent those first degree female relatives who had breast cancer up to age 50 or 70 by the genotype of the case (index proband). The numbers are not the probabilistic assignment of the kin-cohort calculation to a specific genotype. *** Represents the frequency of the C allele, although not technically "rare".