| NAME | PHENOTYPE | ENZYME OR PROCESS AFFECTED |
|---|---|---|
| MSH2, 3, 6, MLH1, PMS2 | colon cancer | mismatch repair |
| Xeroderma pigmentosum (XP) groups A–G | skin cancer, cellular UV sensitivity, neurological abnormalities | nucleotide excision-repair |
| XP variant | cellular UV sensitivity | translesion synthesis by DNA polymerase δ |
| Ataxia–telangiectasia (AT) | leukemia, lymphoma, cellular γ-ray sensitivity, genome instability | ATM protein, a protein kinase activated by double-strand breaks |
| BRCA-2 | breast and ovarian cancer | repair by homologous recombination |
| Werner syndrome | premature aging, cancer at several sites, genome instability | accessory 3′-exonuclease and DNA helicase |
| Bloom syndrome | cancer at several sites, stunted growth, genome instability | accessory DNA helicase for replication |
| Fanconi anemia groups A–G | congenital abnormalities, leukemia, genome instability | DNA interstrand cross-link repair |
| 46 BR patient | hypersensitivity to DNA-damaging agents, genome instability | DNA ligase I |
From: DNA Repair
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