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Rapid Screening of Blood Mitochondrial D310 and D315 Mutations in Breast Cancer Patients

机译:乳腺癌患者血液线粒体D310和D315突变的快速筛选

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Aims: 'Poly C' stretch extending from 303 to 315 nucleotide positions known as (D310) by GeneBank within the non-coding region HVR-II of mitochondrial DNA (mtDNA) has been identified as a mutational hotspot of primary cancer. We aimed to find this mutation in Bangladeshi breast cancer patients and control samples for screening the changes in poly C stretches. Materials and Methods: We have analyzed a total of 98 breast cancer blood samples and 98 healthy control blood samples and extracted DNA from blood samples for direct sequencing using ABI?3130 Genetic Analyzer. Results: We observed 70.41% C insertion at 310 regions (P<0.001, OR = 16.30 and 95% CI=7.83-33.93) in breast cancer patient whereas it is present only in 12.24% healthy individuals. No alterations were observed in 29.59% breast cancer samples. We also check the mutation pattern at D315 regions, but no significant observation was found (P=1.00). Conclusions: This is the first study from Bangladeshi breast cancer (BC) patients indicating a relatively high frequency of D310 mutations, which suggests that mtDNA instability at D310 may be a common characteristic of BC, study also supports the hypothesis that mtDNA D310 screening may represent additional blood based biomarker for breast cancer prognosis.
机译:目的:'Poly c'延伸从303至315个核苷酸延伸,称为(D310)的核苷酸位置,在线粒体DNA(MTDNA)的非编码区HVR-II中,已被鉴定为原发性癌症的突变热点。我们的目标是在孟加拉国乳腺癌患者中发现这种突变,并控制样品,用于筛选Poly C延伸的变化。材料和方法:我们已经分析了总共98个乳腺癌样品和98个健康控制血液样品,并从血液样品中提取DNA,用于使用ABIα1130遗传分析仪直接测序。结果:在乳腺癌患者中观察到310个区域(P <0.001,或= 16.30和95%CI = 7.83-33.93)观察到70.41%C插入,而其仅存在于12.24%的健康个体中。在29.59%的乳腺癌样品中没有观察到任何改变。我们还检查D315区的突变模式,但没有发现显着的观察(P = 1.00)。结论:这是孟加拉国乳腺癌(BC)患者的第一次研究表明D310突变的相对高频率,这表明D310的MTDNA不稳定性可能是BC的常见特征,研究还支持MTDNA D310筛选可以代表的假设额外的血液生物标志物用于乳腺癌预后。

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