Investigating the
molecular causes of the rare cancer susceptibility syndrome Fanconi
Anemia
Fanconi anemia (FA) is
a rare bone marrow failure and cancer susceptibility syndrome. Biallelic
mutations in any one of thirteen different genes gives rise to FA. It is
known that the proteins encoded by these genes function cooperatively in a
pathway to repair damaged DNA. However, the mechanism(s) of DNA repair
regulated by the FA pathway remains to be clearly established. We will use
molecular, cytogenetic, and biochemical approaches to further define the
role of this essential pathway in two modes of DNA repair; homologous
recombination and translesion DNA synthesis.
