THE MOLECULAR BASIS OF FAMILIAL CANCER PREDISPOSITION SYNDROMES

家族性癌症易感综合症的分子基础

• 批准号: 7605901
• 负责人: Sharon E. Plon
• 金额: $ 0.09万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-02-15 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605901
• 关键词: Affect; Animal Model; Bloom Syndrome; Body Fluids; Breast; Clinical; Colon Carcinoma; Computer Retrieval of Information on Scientific Projects Database; Data; Development; Disease; Family member; Funding; General Population; Genetic; Genetic Materials; Genotype; Grant; Hereditary Malignant Neoplasm; Human; Inborn Genetic Diseases; Institution; Malignant Neoplasms; Malignant neoplasm of ovary; Medical Records; Molecular; Molecular Genetics; Mutation; Normal tissue morphology; Pathogenesis; Patients; Phenotype; Predisposition; Purpose; Rare Diseases; Relative (related person); Research; Research Personnel; Resources; Rothmund-Thomson syndrome; Sampling; Source; Syndrome; United States National Institutes of Health; Xerodermas; Yeasts; abstracting; base; insight; 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. ABSTRACT Certain genetic syndromes are known to predispose affected patients to cancer more than the general population. For some of these disorders, the genetic defect has been characterized in humans; in others, studies in yeast or animal models are providing early answers regarding the genetic basis for disease. There are still many rare inherited disorders that are far from being characterized at the genetic level. For these disorders, primary data needs to be gathered at the clinical level. Because they are rare disorders worldwide, accumulating affected patients and their relatives in order to study their genetic material becomes a difficult task. This study would allow the collection of samples from patients and their family members so that molecular and genetic studies can be conducted to better understand both the primary syndrome and the predisposition toward cancer development. HYPOTHESIS Studying rare cancer predisposition syndromes both at the clinical and molecular level will provide insight into the pathogenesis of cancer in the general population. SPECIFIC AIMS 1. Collect and alaynze clinical samples from both patients affected by a familial cancer syndrome and their family members. Familial cancer syndromes include examples such as familial colon cancer, familial breast-ovarian cancer, ataxiatelangiectasia, Bloom's syndrome, xeroderma pigmentosa, and Rothmund-Thomson Syndrome (RTS). Samples would include bood, 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. 2. Collect and analyze medical records from both patients affected by a familial cancer syndrome and 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。 抽象的 已知某些遗传综合征比普通人群更容易影响癌症。 对于其中一些疾病，遗传缺陷在人类中是特征的。在其他情况下，酵母或动物模型的研究正在提供有关疾病遗传基础的早期答案。 仍然有许多罕见的遗传性疾病在遗传水平上远没有表征。 对于这些疾病，主要数据需要在临床水平上收集。 由于它们在全球范围内是罕见的疾病，因此积累了受影响的患者及其亲戚，以研究其遗传物质成为一项艰巨的任务。 这项研究将允许从患者及其家人那里收集样本，以便可以进行分子和遗传研究，以更好地了解原发性综合征和癌症发展的倾向。 假设 在临床和分子水平上研究罕见的癌症易感综合征将提供对普通人群癌症发病机理的见解。 具体目标 1。来自两名受家族癌综合征及其家人影响的患者的收集和Alaynze临床样本。 家族性癌症综合征包括家族性结肠癌，家族性乳腺癌癌，ataxiatelangiectia，Bloom's综合征，Xeroderma cipmentosa和Rothmund-Thomson综合征（RTS）。 样品将包括BOOD，组织（正常和肿瘤）和体液，这些样品将为研究人员提供研究，以进行研究，这将有助于定义和表征导致这些遗传性疾病及其对癌症倾向的潜在遗传缺陷。 2。收集和分析受家庭癌症综合症及其家人影响的两名患者的医疗记录。 临床信息将允许基因型 - 表型分析与分子研究结合使用。