Table 1

Polymorphisms in DNA repair genes examined in epidemiological studies of cancer risk

Repair pathway and genesChromosomal location/MIM numberePolymorphism (Ref.)aRare allele frequency in controlsb
Base excision repair
OGG13p26.2/601982S326C 1245cg (66)0.22–0.45
3402gac0.35
3574gac0.23
6170gcc0.25
7143agc0.15
9110agc0.23
10629cgc0.50
10660atc0.23
11657agc0.13
11826atc0.23
XRCC119q13.2/194360R194W 26304ct (90)0.06–0.35
R280H 27466ga (91)0.00–0.10
R399Q 28152ga (90)0.14–0.39
Nucleotide excision repair
ERCC119q13.2–13.3/12638019007ga (90)0.45
3′ UTR 8092ca (90)0.27
XPC3p25/2787201457-1461 delins (at)n (91)0.33
XPD19q13.2–13.3/27873022541ca (91)0.40–0.45
D312N 23591ga (90)0.33–0.44
L751Q 35931ac (90)0.06–0.42
XPF16p13.3–13.13/2787605′ UTR 2063ta (90)0.31
30028tc (91)0.33
Double-strand-break repair
BRCA213q12.3/6001855′ UTR −26agd0.28
N289H 1093acd0.03
N372H 1342acd0.22–0.29
T1915M 5972ctd0.05
R2034C 6328ctd0.01
K3326X 10204at (92)0.01
XRCC314q32.3/6006755′region 4541ag (90)0.23
T214M 18067ct (90)0.23–0.38
  • a Published description of polymorphism. Amino acids are represented by uppercase letters and nucleotides are represented by lowercase letters.

  • b Frequency of rare allele among controls in epidemiological studies cited here.

  • c Celera Genomics. Celera Human Reference SNP Database: http://www.celera.com/genomics/academic/home.cfm?ppage=cds&cpage=snps.

  • d National Human Genome Research Institute. Breast cancer information core database: http://research.nhgri.nih.gov/bic/.

  • e Mendelian Inheritance in Man.