遗传性癌症易感综合征和葡萄膜黑色素瘤-猫眼课题宝

遗传性癌症易感综合征和葡萄膜黑色素瘤

批准号：

8814292

负责人：

Mohamed H. Abdel-Rahman

金额：

$20.1万

依托单位：

OHIO STATE UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

2014

资助国家：

美国

项目状态：

已结题

起止时间：

2014-12-08 至 2016-11-30

来源：

https://reporter.nih.gov/project-details/8814292

关键词：

3&apos Untranslated Regions Accounting BRCA1 Associated Protein-1 Cancer Etiology Candidate Disease Gene Clinical Clinical Treatment Code Copy Number Polymorphism Custom Cutaneous Melanoma Data Disease Disease model Environmental Risk Factor Epigenetic Process Eye Family Family history of Family member Frequencies Gene Rearrangement General Population Genes Genetic Genetic Counseling Genetic Predisposition to Disease Genetic screening method Genetic study Genome Germ-Line Mutation Goals Health Healthcare Hereditary Malignant Neoplasm Hereditary Neoplastic Syndromes High-Risk Cancer Individual Inherited Intervention Laboratories Lead Ligation Malignant Neoplasms Measures Medical Genetics Mesothelioma Methylation MicroRNAs Molecular Mutation Nevus Ocular Melanoma Online Mendelian Inheritance In Man Ophthalmic examination and evaluation Outcome Pathogenesis Patient risk Patients Phenotype Predisposition Promoter Regions Regulation Renal carcinoma Reporting Risk Screening for cancer Southern Blotting Syndrome Testing Tissues Tumor Tissue Untranslated Regions Uveal Melanoma Variant Work base clinical Diagnosis clinical phenotype clinically significant cohort deep sequencing early onset exome sequencing follow-up gene discovery genetic variant high risk mRNA Expression melanoma novel prevent promoter screening segregation targeted treatment tumor

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中文摘要

翻译

描述（由申请人提供）：葡萄膜黑色素瘤（UM）是黑色素瘤的一种亚型，其特征在于遗传因素而不是环境因素在疾病发病机制中的重要作用，使其成为研究癌症遗传基础的理想模型疾病。我们实验室的长期目标是确定与UM相关的遗传性癌症易感性的基因和机制。为了实现这一点，我们收集了一个大的UM患者的遗传性癌症易感性的高风险队列。迄今为止，我们对该队列的研究支持BAP 1和其他基因的种系失活，解释了UM患者子集中的遗传性癌症综合征。这将通过两个特定目标进行测试，一个专注于BAP 1研究，另一个专注于其他候选基因：目标1：确定具有肿瘤易感综合征（TPDS）临床表型的UM患者中生殖细胞BAP 1失活的机制。目的2：鉴定导致UM遗传易感性的新候选基因。科学和转化影响：结果将包括确定UM患者BAP 1中遗传性生殖系失活的分子机制。这将为有TPDS风险的患者的遗传咨询提供急需的信息，特别是现在这种基因正在被添加到临床基因检测小组中。鉴定与UM遗传易感性相关的其他候选基因将导致我们和其他人进一步研究，以进一步表征这些综合征的临床表型和潜在治疗靶点

英文摘要

DESCRIPTION (provided by applicant): Uveal melanoma (UM) is a subtype of melanoma characterized by the strong contribution of genetic rather than environmental factors in the pathogenesis of the disease, making it an ideal model disease to study the genetic basis of cancer. The long-term goal of our laboratory is to determine the genes and mechanisms responsible for hereditary cancer predisposition associated with UM. To accomplish this, we have collected a large cohort of UM patients with high risk of hereditary cancer predisposition. Our work to date with this cohort supports that germline inactivation of BAP1 and other gene(s), account for the hereditary cancer syndromes in a subset of UM patients. This will be tested with two specific aims, one focused on BAP1 studies and one on other candidate genes: Aim 1: Identify mechanisms of germline BAP1 inactivation in UM patients with clinical phenotype suggestive of tumor predisposition syndrome (TPDS). Aim 2: Identification of novel candidate genes contributing to hereditary predisposition to UM. Scientific and Translational Impact: Outcomes will include identification of molecular mechanisms of heritable germline inactivation in BAP1 in patients with UM. This will provide much needed information for genetic counseling of patients at risk of TPDS, especially now that this gene is being added to clinical genetic testing panels. Identification of additional candidate genes associated with hereditary predisposition to UM will lead to further studies by us and others to further characterize the clinical phenotype and potential targets for therapy of these syndromes

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