Brca2 (XRCC11) deficiency results in enhanced mutagenesis
Brca2 (XRCC11) deficiency results in enhanced mutagenesis
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DOI：
10.1093/mutage/geg032
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发表时间：
2003-11-01
期刊：
影响因子：
2.7
通讯作者：
Zdzienicka, MZ
中科院分区：
文献类型：
--
作者：
Kraakman-van der Zwet, M;Wiegant, WW;Zdzienicka, MZ
Brca2 缺乏与染色体不稳定以及乳腺癌和其他癌症的风险增加有关。为了研究 Brca2 缺陷对诱变的影响，我们测量了 Brca2 缺陷的中国仓鼠细胞突变体 V-C8 中内源 hprt 基因的自发突变率。该位点的自发突变率增加了 4.3 倍，表明 Brca2 在预防突变方面的重要性。此外，在暴露于 IR 后，与野生型 V79 相比，V-C8 每 Gy 的突变频率增加了 2.3 倍。这些数据表明 BRCA2 患者存在电离辐射的潜在风险。
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.