Skip to main content

Table 3 Promoter and intronic sequence variations of the NBN gene in French Canadian breast cancer cases and healthy controls.

From: Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2French Canadian families with high risk of breast cancer

SNP SNP ID1
(dbSNP ID)
Location Series (No.) MAF2 Common homozygote No. (expected)3 Heterozygote No. (expected)3 Rare homozygote No. (expected)3 HWE p-value OR (95% CI)4 Reported MAF in Caucasian
10 c.-110-242delAGTA Promoter Cases (97) 0.082 81 (81.66) 16 (14.68) 0 (0.66) 0.38 3.4  
  (rs36226237)   Controls (72) 0.028 68 (68.06) 4 (3.89) 0 (0.06) 0.81 (1.1–10.5)  
11 c.702+149T/C Intron 6 Cases (97) 0.082 83 (81.66) 12 (14.68) 2 (0.66) 0.07 0.7 0.108–0.1175
  (rs3026271)   Controls (73) 0.089 60 (60.58) 13 (11.84) 0 (0.58) 0.40 (0.3–1.6)  
12 c.703-29C/T Intron 6 Cases (97) 0.015 94 (94.02) 3 (2.95) 0 (0.02) 0.88 1.1 0.0215
  (NA)6   Controls (73) 0.014 71 (71.01) 2 (1.97) 0 (0.01) 0.91 (0.2–7.0)  
13 c.703-18G/A Intron 6 Cases (97) 0.026 92 (92.06) 5 (4.87) 0 (0.06) 0.79 3.9  
  (rs769418)   Controls (73) 0.007 72 (72.00) 1 (0.99) 0 (0) 0.95 (0.4–34.2)  
14 c.896+36G/A Intron 7 Cases (97) 0.026 92 (92.06) 5 (4.87) 0 (0.06) 0.79 3.9 0.021–0.055
  (rs1805826)   Controls (73) 0.007 72 (72.00) 1 (0.99) 0 (0) 0.95 (0.4–34.2)  
15 c.897-42G/C Intron 7 Cases (97) 0.015 94 (94.02) 3 (2.95) 0 (0.02) 0.76 0.4  
  (NA)6   Controls (73) 0.034 68 (68.09) 5 (4.83) 0 (0.09) 0.76 (0.1–1.9)  
16 c.994+233G/A Intron 8 Cases (97) 0.294 50 (48.37) 37 (40.25) 10 (8.37) 0.43 0.7 0.285
  (rs6990969)   Controls (74) 0.311 34 (35.15) 34 (31.70) 6 (7.15) 0.53 (0.4–1.4)  
17 c.1124+18C/T Intron 9 Cases (97) 0.278 52 (50.52) 36 (38.97) 9 (7.52) 0.45 0.7 0.09–0.3065
  (rs2234744)   Controls (74) 0.304 35 (35.84) 33 (31.32) 6 (6.84) 0.64 (0.4–1.4)  
18 c.1124+91C/A Intron 9 Cases (97) 0.273 53 (51.24) 35 (38.52) 9 (7.24) 0.37 0.7 0.283–0.3065
  (rs1805818)   Controls (74) 0.304 35 (35.84) 33 (31.32) 6 (6.84) 0.64 (0.4–1.3)  
19 c.1125-79C/A Intron 9 Cases (97) 0.284 52 (49.80) 35 (39.41) 10 (7.80) 0.27 0.8 0.3235
  (rs1805786)   Controls (72) 0.292 36 (36.13) 30 (29.75) 6 (6.13) 0.94 (0.4–1.5)  
20 c.1915-7A/G Intron 12 Cases (97) 0.284 52 (49.80) 35 (39.41) 10 (7.80) 0.27 0.8 0.20–0.3125
  (rs2308962)   Controls (70) 0.300 34 (34.30) 30 (29.40) 6 (6.30) 0.86 (0.4–1.5)  
21 c.2071-30A/T Intron 13 Cases (97) 0.284 52 (49.80) 35 (39.41) 10 (7.80) 0.27 0.7  
  (rs3736639)   Controls (71) 0.310 33 (33.82) 32 (30.37) 6 (6.82) 0.65 (0.4–1.3)  
22 c.2234+86T/G Intron 15 Cases (97) 0.010 95 (95.01) 2 (1.98) 0 (0.01) 0.92 3.8  
  (NA)   Controls (72) 0.000 72 (72.00) 0 (0) 0 (0) 1.00 (0.2–80.3)  
23 c.2234+88C/G Intron 15 Cases (97) 0.015 94 (94.02) 3 (2.95) 0 (0.02) 0.88 0.4 0.017–0.0425
  (rs13312970)   Controls (71) 0.035 66 (66.09) 5 (4.82) 0 (0.09) 0.76 (0.1–1.8)  
24 c.2234+157A/G Intron 15 Cases (97) 0.046 88 (88.21) 9 (8.58) 0 (0.21) 0.63 2.3 0.000–0.0255
  (rs13312971)   Controls (71) 0.021 68 (68.03) 3 (2.94) 0 (0.03) 0.86 (0.6–8.9)  
  1. 1 According to the nomenclature guidelines of the Human Genome Variation Society (reference sequence NM_002485.4), nucleotide number one being the A from the ATG codon. 2 Minor allele frequency 3 As expected under Hardy-Weinberg equilibrium 4 Odds ratios for comparison of heterozygotes versus common homozygotes 5 From NCBI dbSNP data. 6 No entry in NCBI dbSNP database, although reported in the literature.