Parisot John P, Thorne Heather, Fellowes Andrew, Doig Ken, Lucas Mark, McNeil John J, Doble Brett, Dobrovic Alexander, John Thomas, James Paul A, Lipton Lara, Ashley David, Hayes Theresa, McMurrick Paul, Richardson Gary, Lorgelly Paula, Fox Stephen B, Thomas David M
Division of Cancer Research, Peter MacCallum Cancer Centre, 7 St Andrews Place, East Melbourne VIC 3002, Australia.
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville VIC 3010, Australia.
J Pers Med. 2015 Oct 29;5(4):354-69. doi: 10.3390/jpm5040354.
"Cancer 2015" is a longitudinal and prospective cohort. It is a phased study whose aim was to pilot recruiting 1000 patients during phase 1 to establish the feasibility of providing a population-based genomics cohort. Newly diagnosed adult patients with solid cancers, with residual tumour material for molecular genomics testing, were recruited into the cohort for the collection of a dataset containing clinical, molecular pathology, health resource use and outcomes data. 1685 patients have been recruited over almost 3 years from five hospitals. Thirty-two percent are aged between 61-70 years old, with a median age of 63 years. Diagnostic tumour samples were obtained for 90% of these patients for multiple parallel sequencing. Patients identified with somatic mutations of potentially "actionable" variants represented almost 10% of those tumours sequenced, while 42% of the cohort had no mutations identified. These genomic data were annotated with information such as cancer site, stage, morphology, treatment and patient outcomes and health resource use and cost. This cohort has delivered its main objective of establishing an upscalable genomics cohort within a clinical setting and in phase 2 aims to develop a protocol for how genomics testing can be used in real-time clinical decision-making, providing evidence on the value of precision medicine to clinical practice.
“癌症2015”是一个纵向的前瞻性队列研究。这是一项分阶段研究，其目标是在第一阶段试点招募1000名患者，以确定建立一个基于人群的基因组队列的可行性。新诊断的患有实体癌且有用于分子基因组检测的残留肿瘤材料的成年患者被纳入该队列，以收集包含临床、分子病理学、卫生资源使用和结局数据的数据集。在近3年的时间里，从5家医院招募了1685名患者。32%的患者年龄在61至70岁之间，中位年龄为63岁。90%的这些患者获得了诊断性肿瘤样本用于多重平行测序。被鉴定出具有潜在“可操作”变异的体细胞突变的患者占测序肿瘤患者的近10%，而42%的队列患者未鉴定出突变。这些基因组数据用癌症部位、分期、形态、治疗、患者结局以及卫生资源使用和成本等信息进行注释。该队列已实现其在临床环境中建立一个可扩大规模的基因组队列的主要目标，并且在第二阶段旨在制定一个关于基因组检测如何用于实时临床决策的方案，为精准医学在临床实践中的价值提供证据。
