Radiation Oncology/Cancer Syndromes/Fanconi Anemia

Fanconi Anemia

• wikipedia entry
• DNA repair chapter

• FANC-D2 serves two roles, which are independent of each other
  • Phosphorylation at S-222 by ATM in response to double strand break leads to activity in S-phase checkpoint
  • Ubiquination at L-561 by FA nuclear complex leads to regulation of BRCA2 during homologous recombination
• Increased sensitivity to DNA cross-linking, but limited radiosensitivity
• Short stature, skeletal abnormalities, increased solid tumors and leukemias, aplastic anemia
• Autosomal recessive