Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients
Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients
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DOI：
10.1016/j.jmoldx.2014.06.004
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发表时间：
2014-11-01
影响因子：
4.1
通讯作者：
Lindeman, Neal I.
中科院分区：
文献类型：
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作者：
MacConaill, Laura E.;Garcia, Elizabeth;Lindeman, Neal I.
正在进行的癌症基因组表征研究继续阐明驱动许多癌症的基因组异常谱，并且在临床竞技场中，患者中驱动基因改变的评估对于许多癌症类型起着越来越重要的诊断和/或预后作用。然而，对于不太常见的癌症，基因组异常的情况仍然是未知的，特定基因型对临床行为的影响通常仍然不清楚。为了解决这些缺陷，我们开发了Profile，这是一项前瞻性队列研究，旨在获得大型三级医疗中心癌症相关护理的所有患者的基因组信息。我们招募了患有任何癌症诊断的患者，并且对于每名患者（癌症部位或类型），我们对41个癌症相关基因中的471个常见复发突变进行了质谱基因分型（OncoMap）。我们报告了前5000例患者的结果，其中26%表现出潜在的可操作的体细胞突变。这些观察结果表明基因分型在推进精确肿瘤学领域中的实用性。
Ongoing cancer genome characterization studies continue to elucidate the spectrum of genomic abnormalities that drive many cancers, and in the clinical arena assessment of the driver genetic alterations in patients is playing an increasingly important diagnostic and/or prognostic rote for many cancer types. However, the landscape of genomic abnormalities is still unknown for less common cancers, and the influence of specific genotypes on clinical behavior is often still unclear. To address some of these deficiencies, we developed Profile, a prospective cohort study to obtain genomic information on all patients at a large tertiary care medical center for cancer-related care. We enrolled patients with any cancer diagnosis, and, for each patient (unselected for cancer site or type) we applied mass spectrometric genotyping (OncoMap) of 471 common recurrent mutations in 41 cancer-related genes. We report the results of the first 5000 patients, of which 26% exhibited potentially actionable somatic mutations. These observations indicate the utility of genotyping in advancing the field of precision oncology.