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Table 2 Exonic 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) Protein change 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
1 c.102G/A p.Leu34Leu Exon 2 Cases (97) 0.284 52 (49.80) 35 (39.41) 10 (7.80) 0.27 0.7 0.283–0.4505
  (rs1063045)    Controls (71) 0.310 33 (33.82) 32 (30.37) 6 (6.82) 0.65 (0.4–1.3)  
2 c.283G/A p.Asp95Asn Exon 3 Cases (97) 0.005 96 (96.00) 1 (0.99) 0 (0) 0.96 0.7  
  (NA)6    Controls (71) 0.007 70 (70.00) 1 (0.99) 0 (0) 0.95 (0.0–11.9)  
3 c.381T/C p.Ala127Ala Exon 4 Cases (97) 0.005 96 (96.00) 1 (0.99) 0 (0) 0.96 2.3  
  (NA)    Controls (72) 0.000 72 (72.00) 0 (0) 0 (0) 1.00 (0.1–56.1)  
4 c.511A/G p.Ile171Val Exon 5 Cases (97) 0.005 96 (96.00) 1 (0.99) 0 (0) 0.96 2.3  
  (NA)6    Controls (73) 0.000 73 (73.00) 0 (0) 0 (0) 1.00 (0.1–57.0)  
5 c.553G/C p.Glu185Gln Exon 5 Cases (97) 0.268 54 (51.97) 34 (38.06) 9 (6.97) 0.29 0.6  
  (rs1805794)    Controls (73) 0.308 34 (34.93) 33 (31.13) 6 (6.93) 0.61 (0.3–1.2)  
6 c.643C/T p.Arg215Trp Exon 6 Cases (97) 0.005 96 (96.00) 1 (0.99) 0 (0) 0.96 0.8  
  (rs34767364)    Controls (73) 0.007 72 (72.00) 1 (0.99) 0 (0) 0.95 (0.0–12.2)  
7 c.797C/T p.Pro266Leu Exon 7 Cases (97) 0.005 96 (96.00) 1 (0.99) 0 (0) 0.96 2.3 0.0005
  (rs769420)    Controls (73) 0.000 73 (73.00) 0 (0) 0 (0) 1.00 (0.1–57.0)  
8 c.1197T/C p.Asp399Asp Exon 10 Cases (97) 0.320 47 (44.91) 38 (42.19) 12 (9.91) 0.33 0.9 0.28–0.455
  (rs709816)    Controls (72) 0.313 34 (34.03) 31 (30.94) 7 (7.03) 0.99 (0.5–1.7)  
9 c.2016A/G p.Pro672Pro Exon 13 Cases (97) 0.284 52 (49.80) 35 (39.41) 10 (7.80) 0.27 0.8 0.2835
  (rs1061302)    Controls (70) 0.300 34 (34.30) 30 (29.40) 6 (6.30) 0.86 (0.4–2.2)  
  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. 2 Minor allele frequency
  3. 3 As expected under Hardy-Weinberg equilibrium
  4. 4 Odds ratios for comparison of heterozygotes versus common homozygotes
  5. 5 From NCBI dbSNP data.
  6. 6 No entry in NCBI dbSNP database, although reported in the literature.