Table 4 Simulation of genetic disorders

molecular defects

Jorgensen & Shiloh 1996

· p53 activation blocked

· anti-apoptotic NF-κB (p50-p65-P) blocked

· p53 activation blocked

· cell cycle arrest diminished

· some feedback loops, which terminate signal transduction pathways blocked

Lavin 2008

cellular defects

· cell cycle checkpoints all defect

· genomic instability

· radiosensitivity enhanced

clinical features

· incidence of lymphomas increased

cellular defects

Lavin 2008

· cell cycle arrest diminished

· cell cycle arrest diminished

· some feedback loops, which terminate signal transduction pathways blocked

· genomic instability

· radiosensitivity enhanced

molecular defects

Antoccia et al. 2006

· activation of ATR by ATM abolished

· ATR activity reduced

· p21 expression blocked

· cell cycle arrest diminished

Lavin 2008

· no BRCA1 phosphorylation

· p21 expression reduced

· some feedback loops, which terminate signal transduction pathways blocked

cellular defects

· cell cycle checkpoints all defect

· sensitivity to agents causing DSBs enhanced

· DNA repair diminished

clinical features

· incidence of lymphomas increased

cellular defects

Barbi et al. 1991

· cell cycle arrest diminished

· cell cycle arrest diminished

· some feedback loops, which terminate signal transduction pathways blocked

Waltes et al. 2009

· genomic instability

· radiosensitivity enhanced

molecular defects

O’Driscoll et al. 2004

· activation of p53 and Chk1 by ATR diminished

· phosphorylations of Chk1 and p53 by ATR reduced

· cell cycle arrest diminished