Whole Exome Sequencing of Colorectal Cancer Epidemiologic Cohorts

Colorectal cancer is a molecularly heterogeneous disease. Whole Exome Sequencing from patients diagnosed with colorectal cancer in the NHS and HPFS cohorts will extend our understanding of the genetic changes occurring in specific clinical contexts in the disease. This effort has the potential to discover novel recurrently mutated genes and pathways in colorectal cancer that can be functionally validated and give further insights to colorectal cancer pathogenesis. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000.

结直肠癌是一种具有分子异质性的疾病。针对英国国民保健署（NHS）与健康专业人员随访队列（HPFS）中确诊结直肠癌患者的全外显子组测序（Whole Exome Sequencing）数据，将深化我们对该疾病特定临床背景下遗传变异的认知。本研究有望发现结直肠癌中全新的复发性突变基因与信号通路，此类变异可通过功能验证，进而为结直肠癌的发病机制研究提供更深入的见解。所有外显子组测序工作均在哈佛-麻省理工博德研究所完成；样本序列捕获采用安捷伦SureSelect人类全外显子捕获试剂盒v2，测序则在Illumina HiSeq 2000平台上进行。