Table 2.
Major DNA Repair Pathways and Associated Inherited Genetic Defects
| DNA Repair Pathway (Sub-Pathway) | Inherited Genetic Defects (Syndrome) | Major Clinical Phenotypes | |
|---|---|---|---|
| MMR | MSH2, MSH6, MLH1, PMS1, PMS2 (LS or MMRCS) | cancer predisposition | |
| BER | MUTYH (MAP), NTHL1 (colorectal cancer), UNG (HIGM-V) | cancer predisposition, immunological defects | |
| NER | GG-NER | XPA, XPB, XPC, XPD, XPE, XPF, XPG, ERCC1 (XP) | cancer predisposition (particularly UV-induced skin melanoma), some instances of neurological disease |
| TC-NER | CSA, CSB, XPB, XPD, XPF, XPG, ERCC1, TTD-A (CS, combined XP/CS, TTD) | developmental defects, premature aging, neurological abnormalities, no cancer predisposition | |
| SSBR | APTX (AOA1), TDP1 (SCAN1), PNKP (AOA4), XRCC1 (AOA5) | neurological disease, no cancer predisposition | |
| DSBR | NHEJ | LIG4 (LIG4 syndrome, MPD), XLF/Cernunnos (SCID), Artemis (SCID), DNA-PKcs (SCID), XRCC4 (MPD), ATM (AT), MRE11 (ATLD), NBS1 (NBS) | cancer predisposition, immunodeficiency, neurological disease |
| HR | BRCA1/2 (breast cancer), RAD50, RAD51, PALB2 (ovarian cancer), FANCA, FANCC, and FANCG (FA) | cancer predisposition, aplastic anemia | |
Specific syndrome linked to the repair defect is indicated in parentheses. Predominant clinical features are listed. See text for further information