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Hereditary Cancer in Clinical Practice

Open Access

Cancer predisposing BARD1 mutations in breast-ovarian cancer families

  • Magdalena Ratajska1,
  • Magdalena Matusiak1,
  • Izabela Brożek1,
  • Maciej Stukan1,
  • Marcin Śniadecki2,
  • Jarosław Dębniak1,
  • Dariusz Wydra2 and
  • Janusz Limon1
Hereditary Cancer in Clinical Practice201210(Suppl 4):A10

Published: 10 December 2012


Ovarian CancerAmino Acid ChangeRisk AlleleNonsense MutationGynecological Cancer

BARD1 was identified as a protein interacting with BRCA1 - the heterodimer formed by BRCA1 and BARD1 acts in DNA repair, RNA processing, transcription and cell cycle regulation. BARD1 has also BRCA1-independent functions like mediating p53-dependent apoptosis. Additionally, BARD1 mRNA isoforms were found to be highly expressed in most human gynecological cancers.

We report 17 different BARD1 variants, four of which were suspected to be pathogenic, including a novel substitution (c.1361C>T) leading to amino acid change in highly conserved ankirin domain motif, a splice mutation (c.1315-2A/G) resulting in exon 5 skipping and a silent change (c.1977A/G) which alters several ESE motifs in exon 10, and results in a transcript lacking exons 2-9. Finally we identified two unrelated patients carrying truncating nonsense mutation in exon 8 (c.1690C>T).

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.

Authors’ Affiliations

Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland
Department of Gynecology, Gynecologic Oncology and Gynecologic Endocrinology, Medical University in Gdańsk, Poland


© Ratajska et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.