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Emerging Role of Genomic Rearrangements in Breast Cancer: Applying Knowledge from Other Cancers

机译:基因组重排在乳腺癌中的新兴作用:应用其他癌症的知识

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摘要

Significant advances in our knowledge of cancer genomes are rapidly changing the way we think about tumor biology and the heterogeneity of cancer. Recent successes in genomically-guided treatment approaches accompanied by more sophisticated sequencing techniques have paved the way for deeper investigation into the landscape of genomic rearrangements in cancer. While considerable research on solid tumors has focused on point mutations that directly alter the coding sequence of key genes, far less is known about the role of somatic rearrangements. With many recurring alterations observed across tumor types, there is an obvious need for functional characterization of these genomic biomarkers in order to understand their relevance to tumor biology, therapy, and prognosis. As personalized therapy approaches are turning toward genomic alterations for answers, these biomarkers will become increasingly relevant to the practice of precision medicine. This review discusses the emerging role of genomic rearrangements in breast cancer, with a particular focus on fusion genes. In addition, it raises several key questions on the therapeutic value of such rearrangements and provides a framework to evaluate their significance as predictive and prognostic biomarkers.
机译:我们对癌症基因组知识的重大进步正在迅速改变我们对肿瘤生物学和癌症异质性的看法。基因组指导治疗方法的最新成功以及更先进的测序技术为深入研究癌症基因组重排的前景铺平了道路。尽管有关实体瘤的大量研究都集中在直接改变关键基因编码序列的点突变上,但对体细胞重排的作用知之甚少。随着在各种肿瘤类型中观察到许多反复发生的改变,显然需要对这些基因组生物标记进行功能表征,以了解它们与肿瘤生物学,治疗和预后的相关性。随着个性化治疗方法正朝着寻求答案的基因组改变的方向发展,这些生物标记物将越来越与精密医学的实践相关。这篇综述讨论了基因组重排在乳腺癌中的新兴作用,特别关注融合基因。此外,它对此类重排的治疗价值提出了几个关键问题,并提供了一个框架来评估其作为预测性和预后性生物标志物的意义。

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