The Fanconi anaemia/BRCA pathway.
Fanconi anaemia (FA) is a rare genetic cancer-susceptibility syndrome that is characterized by congenital abnormalities, bone-marrow failure and cellular sensitivity to DNA crosslinking agents. Seven FA-associated genes have recently been cloned, and their products were found to interact with well-known DNA-damage-response proteins, including BRCA1, ATM and NBS1. The FA proteins could therefore be involved in the cell-cycle checkpoint and DNA-repair pathways. Recent studies implicate the FA proteins in the process of repairing chromosome defects that occur during homologous recombination, and disruption of the FA genes results in chromosome instability--a common feature of many human cancers.
D'Andrea
Alan D
AD
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA. alan_dandrea@dfci.harvard.edu
Grompe
Markus
M
D000818:Animals; D019313:BRCA1 Protein / Q000502:physiology*; D019457:Chromosome Breakage / Q000502:physiology; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins; D004195:Disease Models, Animal; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D052217:Fanconi Anemia Complementation Group A Protein; D005816:Genetic Complementation Test; D006801:Humans; D051379:Mice; D011506:Proteins / Q000502:physiology*; D015398:Signal Transduction
D019313:BRCA1 Protein; D004268:DNA-Binding Proteins; C498471:FANCA protein, human; C120277:Fanca protein, mouse; D052217:Fanconi Anemia Complementation Group A Protein; D011506:Proteins