Process | Nodes in the | Experimental markers | Validated role | References |
---|---|---|---|---|
 | FA/BRCA BNM | used in this study | in the BNM |  |
DNA damage | ICL | MMC | FA cells are | |
induction | Â | Â | hypersensitive | Â |
 |  |  | to ICL inducing |  |
 |  |  | agents |  |
Upstream | FAcore | Non-evaluated | ICL recognition | |
FA/BRCA | FANCD2I | Â | proteins | Â |
pathway | NUC1 | Â | Â | Â |
 | NUC2 |  |  |  |
DNA repair | ADD | γH2AX, | ICLs are unhooked | |
intermediaries | DSB | CA in metaphase | by FA core-recruited | Â |
 |  | spreads | DNA-endonucleases |  |
 |  |  | that generate a DSB |  |
 |  |  | and an ADD |  |
Downstream | TLS | Non-evaluated | The ADD and DSB | |
FA/BRCA | FAHRR | Â | are repaired by TLS | Â |
pathway | Â | Â | and FA-dependent | Â |
 |  |  | downstream homologous |  |
 |  |  | recombination repair, |  |
 |  |  | respectively. FA cells |  |
 |  |  | accumulate DSBs |  |
Alternative | HRR2 | Non-evaluated | FA cells use | |
DNA repair | NHEJ | Â | alternative DNA | Â |
pathways | Â | Â | repair pathways, | Â |
 |  |  | mainly NHEJ |  |
 |  |  | HRR2 is a |  |
 |  |  | criptic repair choice |  |
Checkpoint | ATR | Cell cycle arrest | Upon DNA damage | |
 | ATM | in G2, pCHK1-S341, | normal and FA |  |
 | p53 | p21 gene expression, | cells activate |  |
 |  | MYT1, WEE1, p21 | the G2/M checkpoint |  |
 |  | proteins |  |  |
Checkpoint | CHKREC | MPM2 mitotic index, | The checkpoint | |
recovery | Â | cytokinesis block assay, | is inactivated by | Â |
 |  | G2/M transcriptional | CHKREC after |  |
 |  | program, WIP1, PLK1, | DNA repair |  |
 |  | CDC25, Aurora A | FA cells seem to have |  |
 |  | proteins | a lower threshold for |  |
 |  |  | CHKREC activation |  |
 |  |  | compared to normal cells |  |