Somatic and germline sequencing in genitourinary oncology: genetics for the clinician.
Somatic and germline sequencing in genitourinary oncology: genetics for the clinician.
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DOI：
10.1097/mou.0000000000000643
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发表时间：
2019-07
影响因子：
2.5
通讯作者：
Sternberg, Cora N.
中科院分区：
文献类型：
--
作者：
Shoag, Jonathan E.;Wise, David R.;Sharaf, Ravi N.;Sternberg, Cora N.
关键词：
下一代测序变得越来越容易。本文综述了体细胞和生殖细胞测序技术在泌尿生殖系统肿瘤中的临床应用。生殖系变异已越来越多地被认为是导致泌尿生殖系统恶性肿瘤发生的原因，特别是在晚期疾病患者中。各种商业和机构技术正在用于检测变异，更新的工具专注于将这些结果整合到临床工作流程中。DNA测序正在成为治疗泌尿生殖系统恶性肿瘤患者的一种有价值的工具。进行体细胞和生殖细胞测序可能会成为标准做法。这些结果的解释和临床应用可能具有挑战性，通常需要多学科的专业知识。
Next-generation sequencing is becoming more accessible. This review focuses on the clinical application of somatic and germline sequencing to genitourinary oncology. Germline variants have been increasingly recognized as contributing to the development of genitourinary malignancies, particularly in patients with advanced disease. A variety of commercial and institutional technologies are in use to detect variants, with newer tools focused on integrating these results into the clinical workflow. DNA sequencing is becoming a valuable tool in caring for patients with genitourinary malignancies. Performing both somatic and germline sequencing will likely become standard practice. Interpretation and clinical application of these results can be challenging and often requires multidisciplinary expertise.