Study identifies new gene mutation associated with defective DNA repair and Fanconi anemia

(JCI Journals) Fanconi anemia is a rare genetic disease characterized by hematologic symptoms and high cancer risk. Mutations in nearly 20 different genes have been identified in patients with Fanconi anemia. In a study published this week in the JCI, work from Detlev Schinder's group at the University of Wurzburg reveals a new Fanconi anemia gene, RFWD3, that is involved in complex DNA repair processes and may also play a relevant role in cancer risk.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news