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基因组测序如何影响手术?

How does genome sequencing impact surgery?

机构信息

Department of Surgery, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands.

出版信息

Nat Rev Clin Oncol. 2014 Oct;11(10):610-8. doi: 10.1038/nrclinonc.2014.101. Epub 2014 Jun 24.

Abstract

Cancer is a leading cause of death worldwide. Great efforts are dedicated to the development of prognostic and predictive biomarkers to improve diagnosis and achieve optimal treatment selection, thereby, introducing precision medicine in the multimodality treatment of cancer. Genomic aberrations are the basis of tumour development, representing excellent candidates for the development of promising clinical biomarkers. Over the past decade, single-gene mutations and genomic profiling have been increasingly used in multidisciplinary consultations for risk-assessment and treatment planning for patients with cancer. We discuss the impact of such genetic-based information on surgical decision-making. Single-gene mutations have already influenced surgical decision-making in breast, colorectal and thyroid cancer. However, the direct impact of genomic profiling on surgical care has not yet been fully established. We discuss the direct and indirect influences of genomic profiling on surgery, and analyse the limitations and unresolved issues of a genotypic-approach to the surgical management of cancer.

摘要

癌症是全球主要死因之一。人们致力于开发预后和预测生物标志物,以改善诊断并实现最佳治疗选择,从而在癌症的多模态治疗中引入精准医学。基因组异常是肿瘤发展的基础,是开发有前途的临床生物标志物的优秀候选者。在过去的十年中,单基因突变和基因组分析已越来越多地用于多学科咨询,以评估癌症患者的风险并制定治疗计划。我们讨论了此类基于遗传的信息对手术决策的影响。单基因突变已经影响了乳腺癌、结直肠癌和甲状腺癌的手术决策。然而,基因组分析对手术护理的直接影响尚未完全确定。我们讨论了基因组分析对手术的直接和间接影响,并分析了基于基因型的癌症手术管理方法的局限性和未解决的问题。

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