Cancer predisposing BARD1 mutations in breast-ovarian cancer families

Research output: Contribution to journalArticle


The breast cancer susceptibility gene BARD1 (BRCA1-associated RING domain protein, MIM# 601593) acts with BRCA1 in DNA double-strand break (DSB) repair and also in apoptosis initiation. We screened 109 BRCA1/2 negative high-risk breast and/or ovarian cancer patients from North-Eastern Poland for BARD1 germline mutations using a combination of denaturing high-performance liquid chromatography and direct sequencing. We identified 16 different BARD1 sequence variants, five of which are novel. Three of them were suspected to be pathogenic, including a protein truncating nonsense mutation (c.1690C > T, p.Gln564X), a splice mutation (c.1315-2A > G) resulting in exon 5 skipping, and a silent change (c.1977A > G) which alters several exonic splicing enhancer motifs in exon 10 and results in a transcript lacking exons 2-9. Our findings suggest that BARD1 mutations may be regarded as cancer risk alleles and warrant further investigation to determine their actual contribution to non-BRCA1/2 breast and ovarian cancer families.


  • Magdalena Ratajska
  • Ewelina Antoszewska
  • Anna Piskorz
  • Izabela Brozek
  • Åke Borg
  • Hanna Kusmierek
  • Wojciech Biernat
  • Janusz Limon
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • Breast cancer, Ovarian cancer, Hereditary, BARD1 mutation
Original languageEnglish
Pages (from-to)89-97
JournalBreast Cancer Research and Treatment
Issue number1
Publication statusPublished - 2012
Publication categoryResearch