Cancer Genetics

癌症遗传学：该项目的目标是使癌症遗传学研究超越标准的基因-表型相关性，了解基因之间的串扰和非遗传对基因的影响(系统遗传学)。基因并不是孤立地起作用的，这些类型的相互作用会影响由此产生的表型，并对人类癌症产生深远的影响。项目教职员工概述了五项战略 目标：(1)全基因组战略，(2)高外显率癌症基因，(3)基因组完整性的丧失，(4)表观遗传过程，以及(5)最先进的基础设施，包括技术和生物信息学。该计划正在通过计划和计划子集会议、合作赠款、癌症中心在招聘、技术开发和试点项目资金方面的投资来实现他们的目标。项目调查人员的研究重点包括创建一种名为协作十字的新型小鼠平台，该平台将小鼠基因组随机化以模仿人类变异(Pardo Manuel De Villena，Threadgill，Pomp，Wang，Valdar)。佩鲁和夏普莱斯已经创造了遗传工程的临床前小鼠模型的小鼠第一阶段单位，用于监测和开发癌症治疗的表型分析。埃文斯和伯格扩大了临床遗传学计划，并开始了一个以患者为中心的项目，旨在利用下一代基因技术来寻找致病因素 怀疑孟德尔癌症易感性但未发现的家庭中的突变。Threadgill和Pomp是人类癌症联盟老鼠模型的一部分，该联盟的一个项目专注于结直肠癌。Lieb继续开发新的基因组方法，Magnuson挑战了非编码RNA Xist的长期表观遗传学作用。令人自豪的是，奥利弗·史密斯被授予 诺贝尔奖是因为他的开创性工作而获得的，这些工作奠定了该项目使用癌症小鼠模型的基础。统计和人类遗传学以及计算方法的招募扩大了该计划的范围，特别是它对人口和临床科学的影响。高通量测序核心设施的开发为参与高度优先的NCI倡议提供了更多机会，例如癌症基因组图谱第二阶段(Perou、Chiang、Wright和Hayes)。2009年，39名项目教职员工调查人员获得了78笔助学金和3280万美元(总计)的校外支持。 同行评审的研究资助总额为62笔赠款和2970万美元(总计2970万美元)，其中包括国家癌症研究所提供的18笔赠款(900万美元)。

Cancer Genetics: The goal of the program is to take cancer genetics research beyond the standard genotype-phenotype correlation toward understanding cross talk between genes and non-genetic influences on genes (systems genetics). Genes do not act in isolation and these types of interactions impact the resulting phenotype with profound implications in human cancer. Program faculty have outlined five strategic goals: (i) Genome-wide strategies, (ii) High penetrance cancer genes, (iii) Loss of genome integrity, (iv) Epigenetic processes, and (v) State-of-the-art infrastructure, both technology and bioinformatics. The Program is achieving their goals through program and program subset meetings, collaborative grants, cancer center investment in recruitment, technology development and pilot project funding. Highlights of research by Program investigators include creation of a novel mouse platform known as the Collaborative Cross, which randomizes the mouse genome to mimic human variation (Pardo Manuel de Villena, Threadgill, Pomp, Wang, Valdar). Perou and Sharpless have created the mouse phase I unit of genetically engineered pre-clinical mouse models for monitoring and developing phenotypic assays for cancer treatment. Evans and Berg have expanded the clinical genetics program and have embarked on a patient-centered project aimed at using next-generation genetic technology to look for disease-causing mutations in families where a Mendelian cancer susceptibility was suspected but not discovered. Threadgill and Pomp are part of the Mouse Models of Human Cancer Consortium with a project that focuses on colorectal cancer. Lieb continues to develop novel genomic approaches and Magnuson has challenged a long-standing epigenetic role for the non-coding RNA known as Xist. Proudly, Oliver Smithies was awarded the Nobel Prize for his pioneering work that underlies the program's use of cancer mouse models. Recruitment in statistical and human genetics, as well as computational approaches, has expanded the scope of the program, particularly its impact on the population and clinical sciences. Core facility development of high throughput sequencing has provided additional opportunities for participation in high priority NCI initiatives, e.g., phase II of the Cancer Genome Atlas (Perou, Chiang, Wright and Hayes). In 2009, the 39 program faculty investigators have 78 grants and $32.8 million (total $) in extramural support. Peer-reviewed research funding totals 62 grants and $29.7 million (total $), including 18 grants ($9.0 million) from the National Cancer Institute.