Focus: 50 Years of DNA Repair: The Yale Symposium Reports: Fanconi Anemia: A Signal Transduction and DNA Repair Pathway

Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenitaldefects, bone marrow failure, and cancer susceptibility. Research in recentyears has led to the elucidation of FA as a DNA repair disorder and involvedmultiple pathways as well as having wide applicability to common cancers,including breast, ovarian, and head and neck. This review will describe theclinical aspects of FA as well as the current state of its molecularpathophysiology. In particular, work from the Kupfer laboratory will bedescribed that demonstrates how the FA pathway interacts with multiple DNArepair pathways, including the mismatch repair system and signal transductionpathway of the DNA damage response.