What a difference an ERCC1 or ERCC4 (XPF) mutation makes!

摘要

Malignant disease is one of the major causes of mortality and imposes a significant burden on healthcare systems worldwide. The riskifor incurring malignant disease for any given individual is difficult to predict. Yet, more than 50 genes involved in disorders, such as Xeroderma pig-mentosum (XP), Fanconi anemia (FA), Ataxia telangiecta-sia, Nijmegen breakage syndrome, and Cockayne syndrome (CS) have been discovered. Although each of these syndromes exhibit distinct and recognizable patterns of clinical features, they all share genomic instability resulting from defective DNA damage responses. For instance, the 15 genes associated with FA [FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCJ (BRIP1), FANCL (PHF9), FANCM, FANCN (PALB2), FANCO (RAD51C), and FANCP (SLX4)} all participate in genome maintenance by protecting dividing cells against replication-blocking DNA lesions, such as interstrand crosslinks (ICL).