威尔士癌症生物库中结直肠癌队列的临床分析:结果和基因筛选的研究

L. Spary, Katie DeLoyde, H. Roberts, F. Martin, Chi Pooi Lee, R. Butler, M. Mason, Geraldine A. Thomas, A. Parry-Jones, R. Adams
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引用次数: 0

摘要

在过去的12年里,威尔士癌症生物银行(WCB)已经同意了2000多名结直肠癌(CRC)患者。从这些病人身上,我们收集了临床数据,并对他们的癌症历程进行了跟踪。对这些患者的临床资料进行了分析,以确定疾病等级和预后之间的相关性。在一个由407名患者组成的小队列中,WCB对患者原发肿瘤样本进行了遗传分析,鉴定并表征了KRAS、NRAS、BRAF、PIK3CA和TP53基因的突变。大多数同意WCB的结直肠癌患者为男性,平均年龄69岁,接受手术作为其疾病的主要治疗方法。病理和无病生存数据证实,病情越严重,预后越差。在一个亚组患者中探讨原发肿瘤的异质性。对KRAS和TP53基因的分析证实,超过40%的CRC患者在其原发肿瘤中携带这些基因突变。由于测试的样本量有限,大多数突变在无病生存方面没有显着差异,然而,BRAF基因的突变确实显示出疾病特异性生存的降低,与已发表的数据一致。诊断为
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical Analysis of the Colorectal Cohort within the Wales Cancer Biobank: A Study of Outcomes and Genetic Screening
Over the last 12 years, the Wales Cancer Biobank (WCB) has consented to more than 2000 patients with colorectal cancer (CRC). From these patients, clinical data has been collected and patients have been followed through their cancer journey. Clinical data from these patients have been analyzed to identify any correlation between disease grade and outcome. In a small cohort, consisting of 407 patients, WCB has performed genetic analysis on patient primary tumor samples, identifying and characterizing mutations in the KRAS, NRAS, BRAF, PIK3CA and TP53 genes. The majority of patients with CRC who were consented to WCB were male with a mean age of 69 years and received surgery as the primary treatment for their disease. Pathology and disease-free survival data confirmed worse prognoses associated with more advanced disease. Heterogeneity within the primary tumor was explored in a subgroup of patients. Analysis of the KRAS and TP53 genes confirmed that more than 40% of CRC patients who were tested, harbored a genetic mutation within these genes in their primary tumor. Due to the limited sample size tested, most mutations did not show significant differences in disease-free survival, however, mutation of the BRAF gene did show a decrease in the disease specific survival, in keeping with the published data. Analysis of the patients diagnosed with
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