THE MOLECULAR BASIS OF ROTHMUND-THOMSON SYNDROME AND OSTEOSARCOMA

罗斯蒙-汤姆森综合征和骨肉瘤的分子基础

• 批准号: 8166729
• 负责人: LISA WANG
• 金额: $ 0.38万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166729
• 关键词: Accounting; Adolescent; Affect; Blood; Body Fluids; Bone neoplasms; Child; Clinical; Computer Retrieval of Information on Scientific Projects Database; Defect; Development; Disease; Family member; Funding; General Population; Genes; Genetic; Genotype; Grant; Inborn Genetic Diseases; Institution; Malignant Neoplasms; Medical; Medical Records; Molecular; Molecular Genetics; Mutation; Normal tissue morphology; Pathogenesis; Patients; Phenotype; Predisposition; RECQL4 gene; Research; Research Personnel; Resources; Rothmund-Thomson syndrome; Sampling; Source; Syndrome; United States National Institutes of Health; base; insight; interest; osteosarcoma; sample collection; tumor

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Certain genetic syndromes are known to predispose affected patients to cancer more than the general population. Rothmund-Thomson syndrome (RTS) is one of these cancer syndromes and specifically predisposes patients to developing osteosarcoma (OS), a primary bone tumor that occurs in children and adolescents. Mutations in a gene called RECQL4 accounts for two-thirds of cases of RTS; however, for the other one-third of patients, the gene defect has not yet been discovered. We are interested in studying patients with RTS and related syndromes, as well as patients with atypical forms of OS, in order to understand the molecular mechanisms underlying OS predisposition and pathogenesis. This study would allow the collection of samples and medical information from patients with RTS and related disorders and their family members, as well as from patients with atypical osteosarcoma that may have a genetic basis, so that molecular and genetic studies can be conducted to better understand the primary syndrome (RTS), the predisposition toward cancer development, as well as the molecular pathogenesis of OS. Studying rare cancer predisposition syndromes (RTS) both at the clinical and molecular level will provide insight into the pathogenesis of cancer (OS) in the general population. Specific Aim 1: Collect and analyze clinical samples from patients affected by RTS and related syndromes and atypical forms of OS as well as their family members. Samples would include blood, tissues (normal and tumor) and body fluids which would be made available to investigators for the purpose of conducting research that will help to define and characterize the underlying genetic defects which cause these inherited disorders and their propensity toward cancer. Specific Aim 2: Collect and analyze medical records from patients affected by RTS and related syndromes and atypical forms of OS as well as their family members. Clinical information will allow genotype-phenotype analyses in combination with molecular studies.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 已知某些遗传综合征使受影响的患者比一般人群更易患癌症。Rothmund-Thomson综合征（RTS）是这些癌症综合征之一，特别容易使患者发生骨肉瘤（OS），这是一种发生在儿童和青少年中的原发性骨肿瘤。一种名为RECQL 4的基因突变占RTS病例的三分之二;然而，对于其他三分之一的患者，基因缺陷尚未被发现。我们有兴趣研究RTS和相关综合征患者，以及非典型OS患者，以了解OS易感性和发病机制的分子机制。这项研究将允许从RTS和相关疾病患者及其家庭成员以及可能具有遗传基础的非典型骨肉瘤患者中收集样本和医学信息，以便进行分子和遗传研究以更好地了解原发综合征（RTS），癌症发展的易感性，以及OS的分子发病机制。在临床和分子水平上研究罕见的癌症易感综合征（RTS）将为了解普通人群中癌症（OS）的发病机制提供帮助。 具体目标1：收集和分析受RTS和相关综合征和非典型OS形式影响的患者及其家庭成员的临床样本。样本将包括血液、组织（正常组织和肿瘤组织）和体液，这些样本将提供给研究人员，以进行研究，帮助确定和描述导致这些遗传性疾病及其癌症倾向的潜在遗传缺陷。具体目标二：收集和分析RTS相关综合征和非典型OS患者及其家属的病历。临床信息将允许结合分子研究进行基因型-表型分析。