Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer

Open Access

1 September 2004

journal article
other
Published by BMJ in Journal of Medical Genetics

Vol. 41 (9) , e114
https://doi.org/10.1136/jmg.2004.020669

Abstract

BARD1 was originally identified through its interaction with BRCA1, with which it has a closely related domain structure.¹¹ Both proteins possess an N-terminal RING finger motif and two BRCA1 C-terminal (BRCT) domains present in numerous proteins involved in DNA repair and cell cycle regulation.¹¹ The functionally important BARD1/BRCA1 heterodimer formation is mediated by the RING finger motifs and has also been shown to markedly increase the stability of both proteins.^11– ¹³ The finding of breast cancer associated mutations within the RING finger domain of BRCA1, disrupting BRCA1/BARD1 interaction,^11, ¹⁴ and the occurrence of BARD1 missense mutations in breast cancer patients,^15– ¹⁷ implies participation of BARD1 in BRCA1 mediated tumour suppression. BARD1, unlike BRCA1, also contains a centrally located sequence of three ankyrin repeats¹¹ that are found in many proteins involved in transcriptional regulation.¹⁸

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