Table 1.
Genetic defects of genes implicated in DNA damage tolerance and their associated diseases
| Gene | Disease | Citation |
|---|---|---|
| ATAD5 | Ovarian cancer | (119) |
| ATR | Cutaneous telangiectasia and cancer syndrome, familial, Seckel syndrome | (123,124) |
| BRCA1/FANCS | Familial breast-ovarian cancer susceptibility, Fanconi anemia (complementation Group S) and prostate cancer | (127,128) |
| BRCA2/FANCD1 | Familial breast-ovarian cancer, Fanconi anemia (complementation group D1), Wilms tumour and other cancers | (130,131) |
| DNA2 | Seckel syndrome and progressive external ophthalmoplegia | (134,135) |
| HUWE1 | X-linked syndromic mental retardation turner type and colon cancer | (129–137) |
| PRIMPOL/CCDC111 | Myopia | (142) |
| RAD51/FANCR | Fanconi anemia, complementation group R, mirror movements and breast cancer | (133–145) |
| REV3 | Möbius syndrome | (149) |
| REV7/MAD2L2/FANCV | Fanconi anemia | (151) |
| SMARCAL1 | Schimke immunoosseous dysplasia | (154) |
| SPRTN | Ruijs-Aalf syndrome, hepatocellular carcinoma | (161) |
| POLH | Xeroderma Pigmentosum Variant | (167) |
| UBE2A/RAD6A | X-linked syndromic mental retardation, Nascimento type | (176) |
| UBE2B/RAD6B | Male infertility | (179) |
| WRN | Werner syndrome | (184,185) |