DNA repair pathways and genetic variants examined in relation to risk of non-Hodgkin lymphoma
Substitutions according to gene (gene symbol; location) . | RS no. . |
|---|---|
| Nonhomologous end joining/V(D)J | |
| DNA ligase IV (LIG4; 13q33) | |
| T91 | rs1805388 |
| Recombination-activating gene 1* (RAG1; 11p13) | |
| K820R | rs2227973 |
| X-ray repair cross-complementing 4 (XRCC4; 5q13) | |
| N298S | rs1805377 |
| S307 | rs1056503 |
| A247S | rs3734091 |
| Homologous recombination repair | |
| Breast cancer 2, early onset (BRCA2; 13q12.3) | |
| N372H | rs144848 |
| K1132 | rs1801406 |
| S2414 | rs1799955 |
| Ex27-336A>C | rs15869 |
| N289H | rs766173 |
| N991D | rs1799944 |
| Nijmegen breakage syndrome (NBS1; 8q21) | |
| E185Q | rs1805794 |
| Tumor protein p53 (TP53; 17p13.1) | |
| P72R | rs1042522 |
| Werner syndrome (WRN; 8p12) | |
| V114I | rs4987236 |
| M387I | rs1800391 |
| L1074F | rs2725362 |
| C1367R | rs1346044 |
| X-ray repair cross-complementing 2 (XRCC2; 7q36.1) | |
| R188H | rs3218536 |
| X-ray repair cross-complementing 3 (XRCC3; 14q32.3) | |
| T241M | rs861539 |
| Nucleotide excision repair | |
| Excision repair cross-complementing 1 (ERCC1; 19q13.2) | |
| IVS5 + 33A>C | rs3212961 |
| Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
| D312N | rs1799793 |
| Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
| K751Q | rs13181 |
| Excision repair cross-complementing 4 (ERCC4; 16p13.3) | |
| P379S | rs1799802 |
| Excision repair cross-complementing 5 (ERCC5; 13q22) | |
| D1104H | rs17655 |
| RAD23 homolog B (RAD23B; 9q31.2) | |
| A249V | rs1805329 |
| Xeroderma pigmentosum C (XPC; 3p25) | |
| K939Q | rs2228001 |
| Base excision repair | |
| Apurinic/apyrimidinic endonuclease (APEX1; 14q11.2) | |
| D148E | rs3136820 |
| Poly[ADP-ribose] polymerase (PARP; 1q41) | |
| V762A | rs1136410 |
| X-ray repair cross-complementing 1 (XRCC1; 19q13.2) | |
| Q399R | rs25487 |
| Direct damage reversal | |
| O-6-methylguanine DNA methyltransferase (MGMT; 10q26) | |
| I143V | rs2308321 |
| K178R | rs2308327 |
| L84F | rs12917 |
Substitutions according to gene (gene symbol; location) . | RS no. . |
|---|---|
| Nonhomologous end joining/V(D)J | |
| DNA ligase IV (LIG4; 13q33) | |
| T91 | rs1805388 |
| Recombination-activating gene 1* (RAG1; 11p13) | |
| K820R | rs2227973 |
| X-ray repair cross-complementing 4 (XRCC4; 5q13) | |
| N298S | rs1805377 |
| S307 | rs1056503 |
| A247S | rs3734091 |
| Homologous recombination repair | |
| Breast cancer 2, early onset (BRCA2; 13q12.3) | |
| N372H | rs144848 |
| K1132 | rs1801406 |
| S2414 | rs1799955 |
| Ex27-336A>C | rs15869 |
| N289H | rs766173 |
| N991D | rs1799944 |
| Nijmegen breakage syndrome (NBS1; 8q21) | |
| E185Q | rs1805794 |
| Tumor protein p53 (TP53; 17p13.1) | |
| P72R | rs1042522 |
| Werner syndrome (WRN; 8p12) | |
| V114I | rs4987236 |
| M387I | rs1800391 |
| L1074F | rs2725362 |
| C1367R | rs1346044 |
| X-ray repair cross-complementing 2 (XRCC2; 7q36.1) | |
| R188H | rs3218536 |
| X-ray repair cross-complementing 3 (XRCC3; 14q32.3) | |
| T241M | rs861539 |
| Nucleotide excision repair | |
| Excision repair cross-complementing 1 (ERCC1; 19q13.2) | |
| IVS5 + 33A>C | rs3212961 |
| Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
| D312N | rs1799793 |
| Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
| K751Q | rs13181 |
| Excision repair cross-complementing 4 (ERCC4; 16p13.3) | |
| P379S | rs1799802 |
| Excision repair cross-complementing 5 (ERCC5; 13q22) | |
| D1104H | rs17655 |
| RAD23 homolog B (RAD23B; 9q31.2) | |
| A249V | rs1805329 |
| Xeroderma pigmentosum C (XPC; 3p25) | |
| K939Q | rs2228001 |
| Base excision repair | |
| Apurinic/apyrimidinic endonuclease (APEX1; 14q11.2) | |
| D148E | rs3136820 |
| Poly[ADP-ribose] polymerase (PARP; 1q41) | |
| V762A | rs1136410 |
| X-ray repair cross-complementing 1 (XRCC1; 19q13.2) | |
| Q399R | rs25487 |
| Direct damage reversal | |
| O-6-methylguanine DNA methyltransferase (MGMT; 10q26) | |
| I143V | rs2308321 |
| K178R | rs2308327 |
| L84F | rs12917 |
RAG1 is not considered a DNA repair gene but, rather, participates in the V(D)J recombination process with DNA repair genes active in NHEJ.