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Method of screening for colorectal cancer

机译:结肠直肠癌的筛查方法

摘要

The present invention relates to a method of determining one or more probabilities of respective classifications of a large intestine neoplasm in an individual, said method comprising assessing the methylation status of a DNA region selected from: (i) the region, including 2kb upstream of the transcription start site, defined by at least one of Hg19 coordinates chr7:50344378...50472798; and (ii) the gene region, including 2kb upstream of IKZF1 and optionally further comprising assessing the methylation status of at least one DNA region selected from: (i) the region, including 2kb upstream of the transcription start site, defined by at least one of Hg19 coordinates: (2) chr12:24962958..25102393; (3) chr6:391739..411443; (4) chr12:52400748..52409671; and (5) chr6:163834097..163834982; or (ii) the gene region, including 2kb upstream of at least one of: (2) BCAT1, (3) IRF4, (4) GRASP and (5) CAHM in a blood-derived sample from said individual, wherein a level of methylation of at least one of the DNA regions of group (i) and/or (ii) relative to corresponding measured levels of methylation from a population of individuals with known neoplastic categories of corresponding large intestine neoplasms is used to determine one or more probabilities of respective classifications of said large intestine neoplasm of said individual into one or more neoplastic categories selected from adenoma, stage I, stage II, stage III, and stage IV categories or into one or more aggregates of fewer than five of said neoplastic categories.
机译:本发明涉及一种确定个体中大肠肿瘤的各个分类的一个或多个概率的方法,所述方法包括评估选自以下区域的DNA区域的甲基化状态:(i)包括该区域上游2kb的区域。转录起始位点,由至少一个Hg19坐标chr7:50344378 ... 50472798定义; (ii)该基因区域,包括IKZF1上游的2kb,并且任选地还包括评估至少一个DNA区域的甲基化状态,该DNA区域选自:(i)该区域,包括转录起始位点的上游2kb的,由至少一个定义Hg19坐标:(2)chr12:24962958..25102393; (3)chr6:391739..411443; (4)chr12:52400748..52409671;和(5)chr6:163834097..163834982;或(ii)基因区域,其包括来自所述个体的血液样品中至少以下之一的上游的2kb:(2)BCAT1,(3)IRF4,(4)GRASP和(5)CAHM,其中(i)和/或(ii)组中至少一个DNA区域相对于来自具有相应大肠肿瘤的已知肿瘤类别的个体群体的相应测得的甲基化水平的甲基化被用于确定一种或多种概率所述个体的所述大肠肿瘤的各自分类分为选自腺瘤,I期,II期,III期和IV期类别的一种或多种赘生性类别,或分为少于五个所述赘生物类别的一种或多种聚集体。

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