Table 2.
List of human diseases and disorders affected by deficiency in various DDR pathways.
| Disease or disorder | DDR pathway | Genes involved |
|---|---|---|
| Lynch syndrome | MMR | MLH1, MSH2, MSH6, PMS2 |
| Turcot syndrome | MMR | MSH2, MSH6, MLH1, PMS1, PMS2 |
| Muir-Torre syndrome | MMR | MSH2, MLH1 |
| Metabolic syndrome | BER | NEIL1 |
| Atherosclerosis | BER | OGG1 |
| Xeroderma pigmentosa | NER | XP (A–G) |
| Cockayne syndrome | NER | ERCC6, ERCC8 |
| Trichothiodystrophy | NER | Various XP and CS related |
| Ataxia telangiectasia | Global | ATM |
| Cerebro-oculo-facial-skeletal syndrome | NER | ERCC1, 2, 5 or 6 |
| AT-like disease | Global | MRE11 |
| Seckel syndrome 1 | Global | ATR |
| Nijmegen breakage syndrome | DSB/NHEJ | NBS |
| Ligase IV syndrome | DSB/NHEJ | LIGASE IV |
| Werner syndrome | DSB/HR | WRN |
| Rothmund–Thomson syndrome | DSB/HR | RECQL4 |
| Blooms syndrome | DSB/HR | BLM |
| Spinocerebellar ataxia with axonal neuropathy | DSB | TDP1 |
| Fanconi anemia | ICL | FA genes |
| Karyomegalic interstitial nephritis | ICL | FAN1 |
| Xeroderma pigmentosum variant | TLS | POLH |