BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer

Clin Case Rep. 2017 Jan 4;5(2):104-107. doi: 10.1002/ccr3.793. eCollection 2017 Feb.

Abstract

One of the strongest risk factors predisposing patients to breast cancer is a positive family history. In our study, we describe a patient diagnosed with multiple breast cancer tumors. Genetic analysis revealed a pathogenic variant in BARD1, which is associated with an increased risk of developing certain types of cancer.

Keywords: BARD1; BRCA1; breast cancer; genetic testing; tumor suppressor.

Publication types

  • Case Reports