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