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Mutagenesis vol. 18 no. 6 pp. 521-525, November 2003
© 2003 UK Environmental Mutagen Society/Oxford University Press

Brca2 (XRCC11) deficiency results in enhanced mutagenesis

Maria Kraakman-van der Zwet1, Wouter W. Wiegant1 and Malgorzata Z. Zdzienicka1,2,3

1Department of Toxicogenetics – MGC, Leiden University Medical Center, Leiden, The Netherlands and 2Department of Molecular Cell Genetics, the Ludwik Rydygier University of Medical Sciences, Bydgoszcz, Poland

Brca2 deficiency is associated with chromosomal instability and an increased risk of breast and other cancers. To examine the effect of Brca2 deficiency on mutagenesis, we measured the spontaneous mutation rate at the endogenous hprt gene in the Brca2-deficient Chinese hamster cell mutant V-C8. A 4.3-fold increase was found in the spontaneous mutation rate at this locus, indicating the importance of Brca2 in the prevention of mutagenesis. In addition, following exposure to IR, a 2.3-fold increase in mutant frequency per Gy was found for V-C8 in comparison with wild-type V79. These data suggest a potential risk from ionizing radiation for BRCA2 patients.

3To whom correspondence should be addressed at: Department of Toxicogenetics – MGC, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands. Tel: +31 71 5276175; Fax: +31 71 5276173; Email: m.z.zdzienicka{at}lumc.nl


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