IGF::OT::IGF NEXT GENERATION SEQUENCING (NGS) OF ARCHIVED FFPE TISSUE FROM MEN OF AFRICAN DESCENT

IGF::OT::IGF 对非洲人后裔存档 FFPE 组织进行下一代测序 (NGS)

• 批准号: 9369155
• 负责人: Camille C. Ragin
• 金额: $ 2.5万
• 依托单位: FOX CHASE CANCER CENTER
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-09-14 至 2017-09-13
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9369155
• 关键词: African; Archives; Biological Assay; Clinical; DNA; Data; Formalin; Freezing; Genetic Predisposition to Disease; Germ Lines; International; Location; Malignant Neoplasms; Nucleic Acids; Paraffin Embedding; Pilot Projects; Population; RNA; Research; Resources; Sampling; Somatic Mutation; Source; Specimen; Survival Rate; Technology; The Cancer Genome Atlas; Time; Tissues; Variant; Whole Blood; anticancer research; base; cohort; genetic epidemiology; genomic platform; men; mortality; next generation sequencing; population based; transcriptome sequencing; tumor

NGS technologies (e.g., RNAseq, WES, etc.) are used to detect somatic mutations in tumors and to study germ line variation. Most NGS studies use nucleic acids isolated from whole blood or fresh frozen tissue specimens. However, formalin-fixed paraffin-embedded (FFPE) tissues are one of the most widely available clinical specimens, particularly in international settings, where fresh frozen tissue is extremely difficult to obtain. The potential utility of FFPE tissue as a source for NGS would greatly enhance population-based cancer studies, especially in developing and resource-limited regions, where cancer-related mortality rates are much higher and survival rates are poorer compared to the developed regions of the world. These studies can have great utility for understanding genetic susceptibility factors of cancer for populations in the US, who share similar ancestral backgrounds to other populations, globally. This would also contribute to a more comprehensive and unbiased platform for genomic-based cancer research.

NGS技术（例如，RNAseq、WES等）用于检测肿瘤中的体细胞突变和研究生殖系变异。大多数NGS研究使用从全血或新鲜冷冻组织标本中分离的核酸。然而，福尔马林固定石蜡包埋（FFPE）组织是最广泛使用的临床标本之一，特别是在国际环境中，新鲜冷冻组织极难获得。FFPE组织作为NGS来源的潜在效用将大大增强基于人群的癌症研究，特别是在发展中和资源有限的地区，与世界发达地区相比，这些地区的癌症相关死亡率高得多，存活率较差。 这些研究对于了解美国人群的癌症遗传易感性因素具有很大的实用性，这些人群与全球其他人群具有相似的祖先背景。这也将有助于为基于基因组的癌症研究提供一个更全面和公正的平台。