Engagement Optimization Unit

骨肉瘤(OS)和平滑肌肉瘤(LMS)是极其罕见的癌症，这两种肿瘤都是肉瘤的亚型， 分别出现在骨骼和肌肉中。一直未能提高存活率或降低存活率 OS/LMS中与治疗相关的发病率，由于对基因组图谱的描述不充分，导致 缺乏有针对性的治疗途径、诊断方法和预防策略。有一件急事 OS和LMS需要一个大型的、共享的临床和基因组数据数据库。然而，由于稀有的 这些肿瘤类型以及患者招募和基因组特征方面的其他挑战 肿瘤，到目前为止，很难生成这些数据。这项提议的首要目标是让 以OS和LMS为合作伙伴的成人和儿科参与者生成共享的临床数据库， 基因组、分子和患者报告的数据。这应该会加速推动新疗法的发现 战略、新的临床试验和新的护理标准。PE-CGS U2C研究中心的Count Me将 利用我们在患者参与、基因组特征、计算分析和 创建和启动两个患者合作项目的行为研究，以生成此临床基因组 数据。我们将在OS和LMS社区为患者建立两个网站-骨肉瘤项目 (OS项目)和平滑肌肉瘤项目(LMS项目)-并在治疗过程中同意3000名患者 学习。我们将收集医疗记录、患者报告的数据、肿瘤组织样本档案以及唾液和血液 用于基因组分析。我们将从至少750个肿瘤样本中产生临床注释的基因组数据， 500份循环肿瘤DNA样本和相应的生殖系样本，并共享未鉴定的数据 广泛地。同时，我们将研究和优化患者参与癌症研究的方法， 特别是在农村和少数民族参与者以及各种识字水平、年龄和年龄的参与者中 发展的各个阶段。为了实现这些目标，我们将建立一个完善的跨学科团队，从 布罗德研究所和Dana-Farber癌症研究所的成员都是这些方法的先驱。我们的 Leadance(Wagle，Janeway)和Units由患者合作的癌症研究(Wagle， )，肉瘤临床和翻译研究(Janeway，George，Crompton，Raut)，基因组 表征、分析和临床解释(Gabriel，Getz，Van Allen，Wagle，Janeway)， 计算生物学/数据科学(Getz，Van Allen，Philippakis)和行为科学(Mack，Rebbeck)。 我们的中心将揭示OS/LMS的关键临床基因组学特征，将它们整合到一个单一的综合 数据库，目的是加快研究并改善这些患者的生活。在这样做的同时，我们还 目的提出一种可广泛传播和应用的患者合作研究的一般方法 到其他肿瘤类型和患者社区。

Osteosarcoma (OS) and leiomyosarcoma (LMS) are exceedingly rare cancers, both subtypes of sarcoma, that arise in bone and smooth muscle respectively. There has been a failure to improve survival rates or decrease treatment-related morbidity in OS/LMS due to insufficient characterization of the genomic landscape, resulting in a lack of targeted therapeutic approaches, diagnostic methods, and preventive strategies. There is an urgent need for a large, shared database of clinical and genomic data in OS and LMS. Yet, because of the rarity of these tumor types as well as other challenges in patient recruitment and the genomic characterization of these tumors, to date it has been difficult to generate this data. The overarching goal of this proposal is to engage adult and pediatric participants with OS and LMS as partners to generate a shared database of clinical, genomic, molecular, and patient-reported data. This should accelerate discoveries that drive novel treatment strategies, new clinical trials, and new standards of care. The Count Me In PE-CGS U2C Research Center will leverage our experience in patient engagement, genome characterization, computational analysis, and behavioral research to create and launch two patient-partnered projects to generate this clinicogenomic data. We will build two websites with patients in the OS and LMS communities—the Osteosarcoma Project (OSproject) and the Leiomyosarcoma Project (LMSproject)—and consent 3,000 patients over the course of the study. We will collect medical records, patient-reported data, archival tumor tissue samples, and saliva and blood for genomic analysis. We will generate clinically annotated genomic data from at least 750 tumor specimens, 500 circulating tumor DNA specimens, and corresponding germline specimens and share the de-identified data widely. At the same time, we will study and optimize the approach to patient engagement in cancer research, particularly among rural and minority participants and participants across a range of literacy levels, ages, and stages in development. To accomplish these goals, we will build on a well-established interdisciplinary team from the Broad Institute and Dana-Farber Cancer Institute with members who have pioneered these approaches. Our leadership (Wagle, Janeway) and Units are comprised of experts in patient-partnered cancer research (Wagle, Painter), sarcoma clinical and translational research (Janeway, George, Crompton, Raut), genome characterization, analysis, and clinical interpretation (Gabriel, Getz, Van Allen, Wagle, Janeway), computational biology/data science (Getz, Van Allen, Philippakis), and behavioral science (Mack, Rebbeck). Our Center will uncover the key clinicogenomic features of OS/LMS, integrate them into a single comprehensive database with a goal of accelerating research and improving the lives of these patients. In doing so, we also aim to present a general approach to patient-partnered research that can be disseminated broadly and applied to other tumors types and patient communities.