SBIR Phase I: CANCER DIAGNOSTIC TOOL USING CANCER GENOMIC SIGNATURES TO DETERMINE CANCER TYPE

小型企业创新研究(SBIR)第一阶段项目的更广泛影响/商业潜力是开发一种数据分析工具，以预测和识别早期癌症筛查血液测试的起源器官。这将允许在癌症的早期阶段进行非侵入性检测，届时可以以更低的成本对其进行潜在的改善结果的治疗。其次，建议的技术的补充应用是为了解决在未知原发癌症的转移癌中识别起源癌症的未得到满足的需求，其中不知道起源器官阻碍了在美国每年30,000例患者中设计有效的治疗计划。这个小企业创新研究(SBIR)第一阶段项目将完成建议的数据分析技术的内部开发和外部验证，以便它准备好在从血液中循环的肿瘤DNA数据上进行验证，并可用于未知原发来源的转移肿瘤。所提出的技术通过使用预测工具分析整个基因组或大的子集来解决未知的初级基因的问题。不同的癌症(亚)类型在癌症基因组中有不同的体细胞单核苷酸变异的模式或特征。这些特征的文库是使用大量具有广泛横截面的已知癌症(亚)类型的全基因组数据样本来建立的。通过将新数据样本的体细胞突变模式与文库中的签名进行比较，确定了新数据样本的未知癌症起源器官。一个关键的研究目标是确定确定癌症起源器官所需的最小全基因组子集，以促进其在血液测试中的应用。这一奖项反映了NSF的法定使命，并通过使用基金会的智力优势和更广泛的影响审查标准进行评估，被认为值得支持。

The broader impact/commercial potential of this Small Business Innovation Research (SBIR) Phase I project is to develop a data analytic tool to predict and identify the organ of origin from early cancer screening blood tests. This will allow noninvasive detection of cancer at early stages, when it can be treated with potentially improved outcomes and in a less costly manner. Second, a complementary application of the proposed technology is to address an unmet need in identifying cancer organ of origin in metastatic cancers of unknown primary, where not knowing the organ of origin hampers designing an effective treatment plan in 30,000+ cases/yr in the U.S.This Small Business Innovation Research (SBIR) Phase I project will accomplish internal development, and external validation of the proposed data analytic technology so it is ready to be validated on circulating tumor DNA data from blood, and can be used for metastatic tumors of unknown primary origin. The proposed technology addresses the problem of the unknown primary by analyzing whole genome or large subsets using predictive tools. Different cancer (sub)types have different patterns or signatures of somatic single nucleotide variations in the cancer genome. A library of these signatures is built using a large number of whole genome data samples with a broad cross-section of known cancer (sub)types. The unknown cancer organ of origin of a new data sample is identified by comparing its somatic mutational patterns to the signatures in the library. A key research objective is to identify the minimum subset of whole genome required to determine the cancer organ of origin to facilitate its application in blood tests.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.