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

这项小企业创新研究（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，通过早期癌症筛查血液测试预测和确定起源器官。这将允许在早期阶段对癌症进行无创检测，此时可以以更低的成本治疗癌症，并有可能改善结果。其次，拟议技术的补充应用是解决在确定未知原发转移性癌症的起源器官方面的未满足需求，其中不知道起源器官阻碍了在美国每年30,000多例病例中设计有效的治疗计划。该小企业创新研究（SBIR）第一阶段项目将完成内部开发。并对所提出的数据分析技术进行外部验证，以便准备在血液循环肿瘤DNA数据上进行验证，并可用于原发来源未知的转移性肿瘤。提出的技术通过使用预测工具分析整个基因组或大子集来解决未知原代的问题。不同的癌症（亚）类型在癌症基因组中具有不同的体细胞单核苷酸变异模式或特征。这些特征的文库是使用大量的全基因组数据样本与已知的癌症（亚）类型的广泛横截面建立的。一个新的数据样本的未知癌症器官的起源是通过比较其体细胞突变模式在库中的签名来确定的。一个关键的研究目标是确定癌症起源器官所需的最小全基因组子集，以促进其在血液检测中的应用。该奖项反映了美国国家科学基金会的法定使命，并通过使用基金会的知识价值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.