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; 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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 已知某些遗传综合征比普通人群更容易影响癌症。 Rothmund-Thomson综合征（RTS）是这些癌症综合征之一，特别使患者患有骨肉瘤（OS），骨肉瘤（OS）是一种发生在儿童和青少年中的原发性骨肿瘤。称为RECQL4的基因中的突变占RT病例的三分之二；但是，对于其他三分之一的患者，尚未发现基因缺陷。我们有兴趣研究RT和相关综合征的患者以及具有非典型OS的患者，以了解OS易感性和发病机理的分子机制。这项研究将允许收集RTS和相关疾病患者及其家人的样本和医疗信息，以及可能具有遗传基础的非典型骨肉瘤患者，以便可以更好地了解分子和遗传研究以更好地了解原发性综合征（RTS），以及对癌症发育的倾向，以及对癌症的倾向，以及分子的倾向。在临床和分子水平上研究罕见的癌症易感综合征（RTS）将为一般人群中癌症（OS）的发病机理提供见解。 具体目标1：收集和分析受RT和相关综合征和非典型OS及其家人的非典型综合征和非典型形式的患者的临床样本。样品将包括血液，组织（正常和肿瘤）以及人体液体，这些样品将为研究人员提供，以进行研究，这将有助于定义和表征导致这些遗传疾病及其癌症倾向的潜在遗传缺陷。具体目标2：收集和分析患有RTS及其相关综合症和非典型OS及其家人的患者的病历。临床信息将允许基因型 - 表型分析与分子研究结合使用。