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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.
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BMC Cancer

ISSN: 1471-2407

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