Skip to main content
. 2013 Apr 16;27(3):179–192. doi: 10.7555/JBR.27.20130034

Table 1. Commonly reported SNPs in DNA repair genes implicated in head and neck cancer.

Pathway Reported SNPsa Most studied SNPs Ref. SNP IDs Base changes
Base excision repair
 APE1 123 -656T>G rs1760944 T>G
Asp148Glu rs3136820 T>G
 ADPRT 1063 Val762Ala rs1136410 T>C
 OGG1 439 Ser326Gys rs1052133 C>G
 XRCC1 200 Arg194Trp rs1799782 C>T
Arg280His rs25489 G>A
Arg399Gln rs25487 G>A
 LIG3 449 -39G>A rs2074522 G>A
Arg780His rs3136025 G>A
 PCNA 269 Arg39Ser rs1050525 A>C
Nucleotide excision repair
 XPA 461 23A>G rs1800975 A>G
 XPC 692 PAT - -/+
Ala499Val rs2228000 C>T
Lys939Gln rs2228001 A>C
 ERCC1 437 Asn118Asn rs11615 T>C
IVS5 +33C>A rs3212961 C>A
8092C>A rs3212986 C>A
 ERCC2/XPD 560 Asp312Asn rs1799793 G>A
Lys751Gln rs1052559 A>C
 ERCC4/XPF 766 Arg415Gln rs1800067 G>A
Ser835Ser rs1799801 C>T
 ERCC5/XPG 742 Asp1104His rs17655 G>C
Mismatch repair
 MLH1 1677 -93G>A rs1800734 G>A
 MSH2 2635 Gly322Asp rs4987188 G>A
 MSH6 1013 Gly39Glu rs1042821 G>A
 PMS2 945 Ser775Asn rs1059060 G>A
Double-strand break repair
 Homologous recombination
  XRCC2 661 Arg188His rs3218536 G>A
  XRCC3 438 Thr241Met rs861539 C>T
  RAD51 737 135G>C rs1801320 G>C
172G>T rs1801321 G>T
  NBS1 1040 Glu185Gln rs1805794 G>C
 Non-homologous end-joining
  XRCC4 5014 Ser298Ala rs3734091 A>C
  XRCC5 1092 69506G>A rs3835 G>A
  XRCC6 843 -991T>C rs5751129 T>C
-61C>G rs2267437 C>G
  LIG4 323 Ile658Val rs2232641 A>G
Thr9Ile rs1805388 G>C
Asp568Asp rs1805386 T>C
Direct reversion repair
 MGMT 5924 Leu84Phe rs12917 C>T
Ile143Val rs2308321 C>T