Fanconi Anemia: Guidelines for Diagnosis and Management, Fourth Edition

This chapter will explore the underlying molecular and genetic processes by which FA contributes to conditions such as bone marrow failure, leukemia, squamous cell carcinoma, endocrine abnormalities, and mild-to-severe birth defects (1-3). In general, these conditions arise from genetic mutations that cause chromosome instability and reduce the cell’s ability to repair damage to DNA. At publication, FA-associated mutations have been identified in 16 genes. A few patients with FA do not have mutations in the known genes; thus, more genes likely await discovery.