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


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.


CONCLUSIONS
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.
Romanowicz-Makowska
Hanna
H
Department of Molecular Biology, Polish Mother's Memorial Research Institute, Lodz, Poland.
Smolarz
Beata
B
D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004265:DNA Helicases; D004273:DNA, Neoplasm / Q000032:analysis*; D004268:DNA-Binding Proteins; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D008207:Lymphatic Metastasis; D053842:Microsatellite Instability; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D051721:Rad52 DNA Repair and Recombination Protein
D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C491221:RAD54B protein, human; D051721:Rad52 DNA Repair and Recombination Protein; D004265:DNA Helicases; C103532:RAD54L protein, human