The BRCA1 （Breast Cancer Anti-estrogen resistance-I）, early-onset gene is expressed in cells of breast and other tissue and helps to repair damaged DNA or destroy cells in cases DNA cannot be repaired. When the BRCA...The BRCA1 （Breast Cancer Anti-estrogen resistance-I）, early-onset gene is expressed in cells of breast and other tissue and helps to repair damaged DNA or destroy cells in cases DNA cannot be repaired. When the BRCA1 gene is damaged, then the DNA is not repaired appropriately and this enhances the risk for cancer. Fluorescence and UV-visible thermal studies were performed for WT （wild type） and MT （mutant type targets） full systems. The target DNAs used were in the form of short oligonucleotides, genomic DNA. The probe system was used for detection of WT and SNP alleles of human BRCAI [（170-190, G---~T） and （290-310, G---~T）]. The Cy5 dye attached to a probe oligonucleotide （10-mer） undergoes a fluorescence intensity change on hybridisation of the probe to the WT compared to MT targets. Our results indicate that the system consisting of the target sequence and the one probe oligonucleotides bearing the Cy5 dye assemble correctly at the specified target. Once the full system （probe and target） is arranged under suitable conditions, a red-shift emission and change in fluorescence intensity are seen at a suitable wavelength. Thermal studies also showed significant differences in T,, between WT and MT. The results suggest that the differences in the fluorescence intensity at 665 nm and the spectrophotometric T,,,cs） for the WT and MT can be attributed to the type of binding of the probe to the target. The systems were sensitive to single nucleotide polymorphisms and this may help in high throughput applications in genetic testing and molecular diagnostics.展开更多
目的:探讨乳腺癌易感基因(breast cancer susceptibility gene,BRCA)1和BRCA2突变对乳腺癌人群手术方式选择的影响。方法:研究对象为2017年12月—2021年6月在北京大学国际医院乳腺外科接受住院治疗的符合病例选择标准的130例乳腺癌患者...目的:探讨乳腺癌易感基因(breast cancer susceptibility gene,BRCA)1和BRCA2突变对乳腺癌人群手术方式选择的影响。方法:研究对象为2017年12月—2021年6月在北京大学国际医院乳腺外科接受住院治疗的符合病例选择标准的130例乳腺癌患者,均接受BRCA1/2基因检测及手术治疗。收集患者的临床病理资料,包括发病年龄、乳腺癌和(或)卵巢癌家族史、单侧或双侧乳腺癌、病理类型、组织学分级、肿瘤大小、免疫组织化学结果、治疗前腋窝淋巴结转移情况、是否接受新辅助化疗以及手术方式等。比较BRCA1/2致病胚系突变与非突变携带者的手术方式。结果:130例患者中,BRCA1/2致病胚系突变率为17.7%(23/130)。BRCA1/2致病胚系突变携带者与未携带者的手术方式存在显著差异(P<0.01)。与未携带BRCA1/2致病胚系突变的患者相比,23例BRCA1/2致病胚系突变携带者的保乳率较低(21.7%vs 50.5%),接受患侧单纯乳房切除术的比例较低(30.4%vs 49.5%),而接受患侧乳房全切术联合对侧预防性乳房切除术的比例高(47.8%vs 0.0%)。结论:BRCA1/2突变状态对乳腺癌患者的手术方式选择存在显著影响。BRCA1/2突变乳腺癌患者的保乳率低,并且接受患侧乳房全切术联合对侧预防性乳房切除术的比例高。展开更多
文摘The BRCA1 （Breast Cancer Anti-estrogen resistance-I）, early-onset gene is expressed in cells of breast and other tissue and helps to repair damaged DNA or destroy cells in cases DNA cannot be repaired. When the BRCA1 gene is damaged, then the DNA is not repaired appropriately and this enhances the risk for cancer. Fluorescence and UV-visible thermal studies were performed for WT （wild type） and MT （mutant type targets） full systems. The target DNAs used were in the form of short oligonucleotides, genomic DNA. The probe system was used for detection of WT and SNP alleles of human BRCAI [（170-190, G---~T） and （290-310, G---~T）]. The Cy5 dye attached to a probe oligonucleotide （10-mer） undergoes a fluorescence intensity change on hybridisation of the probe to the WT compared to MT targets. Our results indicate that the system consisting of the target sequence and the one probe oligonucleotides bearing the Cy5 dye assemble correctly at the specified target. Once the full system （probe and target） is arranged under suitable conditions, a red-shift emission and change in fluorescence intensity are seen at a suitable wavelength. Thermal studies also showed significant differences in T,, between WT and MT. The results suggest that the differences in the fluorescence intensity at 665 nm and the spectrophotometric T,,,cs） for the WT and MT can be attributed to the type of binding of the probe to the target. The systems were sensitive to single nucleotide polymorphisms and this may help in high throughput applications in genetic testing and molecular diagnostics.
