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[Analysis of loss of heterozygosity and microsatellite instability RAD52, RAD54 and RAD54B gene and BRCA1 gene mutation in breast cancer]

icecream 添加于 2012-11-25 15:41 | 1073 次阅读 | 0 个评论

作者
Romanowicz-Makowska H, Smolarz B
摘要
RAD51, RAD52, and RAD54 encode proteins that are critical to the repair of double-strand DNA breaks by homologous recombination. The objectives of this study were to determine the frequency of BRCA1 germ-line mutations and the RAD52, RAD54 and RAD54B microsatellite instability (MSI) and loss of heterozygosity (LOH) in patients with breast cancer. MATERIAL AND METHODS: Blood and tumour tissue were obtained from 100 breast cancer women. Blood samples age matched healthy individuals (n = 60) served as control. RESULTS: The microsatellite instability status was significantly higher in breast cancer tissue compared as control (p < 0.05). Significant correlation between one or more regions with concomitant LOH and pathologic parameters were observed with respect to progesterone receptors (p = 0.004) and tumour grade (p = 0.001). In present study one Ex20insC and two ExII17delA mutations of BRCA1 gene were identified in women with breast cancer. CONCLUSION: The results suggest that the microsatellite instability and LOH seems to be important in the development sporadic breast cancer. The lack of detectable BRCA1 germ-line mutations in most cases suggests that there are probably additional, as yet unidentified genes predisposing to this disease.
详细资料
- 关键词: Adult; Aged; Breast Neoplasms/*genetics; DNA Helicases; DNA, Neoplasm/*analysis; Female; Genes, BRCA1; *Germ-Line Mutation; Humans; *Loss of Heterozygosity; Lymphatic Metastasis; *Microsatellite Instability; Middle Aged; Mutation/genetics; Neoplasm Proteins/*genetics; Nuclear Proteins; Rad52 DNA Repair and Recombination Protein; Tumor Markers, Biological/*genetics
- 文献种类:期刊
- 期刊名称: Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego
- 期刊缩写: Pol Merkur Lekarski
- 期卷页: 2006年第21卷第126期 548-550页
- 地址: Department of Molecular Biology, Polish Mother\'s Memorial Research Institute, Lodz, Poland
- ISBN: 1426-9686
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