• Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer.

      Radmanesh, Hoda; Spethmann, Tessa; Enßen, Julia; Schürmann, Peter; Bhuju, Sabin; Geffers, Robert; Antonenkova, Natalia; Khusnutdinova, Elza; Sadr-Nabavi, Ariane; Shandiz, Fatemeh Homaei; Park-Simon, Tjoung-Won; Hillemanns, Peter; Christiansen, Hans; Bogdanova, Natalia; Dörk, Thilo; Helmholtz Centre for infection research, Inhoffenstr.7, 38124 Braunschweig, Germany. (2017-02)
      APOBEC3B belongs to the family of DNA-editing enzymes. A copy number variant targeting the genomic APOBEC3A-APOBEC3B locus has a significant impact on breast cancer risk, but the relative contribution of APOBEC3B is uncertain. In this study, we investigate a loss-of-function mutation that selectively targets APOBEC3B, for its association with breast cancer risk.