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

Biomarkers in cancer Pub Date : 2016-02-11 eCollection Date: 2016-01-01 DOI:10.4137/BIC.S34417
Bhavna S Paratala, Sonia C Dolfi, Hossein Khiabanian, Lorna Rodriguez-Rodriguez, Shridar Ganesan, Kim M Hirshfield
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Abstract

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.

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基因组重排在乳腺癌中的新作用:应用其他癌症的知识
我们在癌症基因组知识方面取得的重大进展正在迅速改变我们对肿瘤生物学和癌症异质性的看法。最近在基因组指导治疗方法方面取得的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情况铺平了道路。对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,而对体细胞重排的作用却知之甚少。由于在各种肿瘤类型中观察到许多重复发生的改变,因此显然需要对这些基因组生物标记物进行功能表征,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转向基因组变化寻找答案,这些生物标志物与精准医疗的实践将变得越来越相关。本综述讨论了基因组重排在乳腺癌中的新作用,尤其关注融合基因。此外,它还提出了有关此类重排的治疗价值的几个关键问题,并提供了一个评估其作为预测和预后生物标志物的意义的框架。
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