Table 1.
A list of age-associated diseases carrying defects in genome maintenance.
| Disease | Mutated Genes | Repair Pathways Affected |
|---|---|---|
| Breast cancer; ovarian cancer | BRCA1; BRCA2; MRE11 | HR |
| Ataxia telangiectasia | ATM | DSB repair |
| Nijmegen breakage syndrome | NBS1 | DSB repair; telomere maintenance |
| Bloom syndrome | BLM | Mitotic recombination |
| Fanconi anemia | FANC; BRCA2 | DNA crosslink repair |
| Breast cancer; sarcoma; brain cancer; adenocotical carcinoma | P53 | HR; BER; NER; NHEJ |
| Cockayne syndrome | CSA; CSB | TC-NER; GG-NER |
| Trichothiodystrophy | XPB; XPD; XPG | TC-NER; GG-NER |
| Hutchison-Gilford progeria syndrome | LMNA | Nuclear lamina function |
| Xeroderma pigmentosum | XPC | GG-NER |
| Werner syndrome | WRN | telomere maintenance; DNA recombination repair |
Abbreviations: TC-NER: transcription-couple nucleotide excision repair; GG-NER: global-genome nucleotide excision repair.