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    • 63. 发明公开
    • DIAGNOSIS AND RISK STRATIFICATION OF BLADDER CANCER
    • 诊断RISIKOSTRATIFIZIERUNG VON BLASENKREBS
    • EP2909631A1
    • 2015-08-26
    • EP13783627.6
    • 2013-10-16
    • Randox Laboratories Ltd.
    • RUDDOCK, Mark W.REID, Cherith N.WILLIAMSON, Kate E.EMMERT-STREIB, FrankLAMONT, John V.FITZGERALD, Peter
    • G01N33/574
    • G16B20/00G01N33/57407G01N33/57484G01N2333/4737G01N2333/4742G01N2333/475G01N2333/485G01N2333/523G01N2333/525G01N2333/5406G01N2333/5412G01N2333/5421G01N2333/545G01N2333/55G01N2333/70578G01N2333/70596G01N2333/7151G01N2333/7452G01N2333/928G01N2333/96433G01N2333/96494G01N2333/988G01N2400/00G16B40/00G16H50/30
    • The invention provides a method of defining the likelihood of a subject having bladder cancer, comprising the steps of: (A) assessing the subject's likelihood of having bladder cancer by: i. identifying at least one sub-population group appropriate to the subject; ii. determining the level of one or more biomarkers selected according to the sub-population group in a sample obtained from the subject; iii. inputting each of the biomarker values into an algorithm to produce an output value; and iv. correlating the output value with the likelihood of the subject having bladder cancer, wherein the sub-population group is selected according to smoking habits, gender, presence/absence of stone disease, history of benign prostate enlargement (BPE) or prescription of anti-hypertensive, anti-platelet and/or anti-ulcer medication, and (B) determining the subject's stratified risk level of serious disease by: v. determining the level of one or more biomarkers specific for one or more risk classifiers defined using Random Forest Classifiers (RFC), logistic regression or another appropriate systems biology or statistical approach in a sample obtained from the subject, vi. inputting each of the biomarker values into an algorithm or algorithms to produce an output value; and vii. correlating the output value with a stratified risk level of underlying serious disease, wherein the likelihood of having bladder cancer is combined with the stratified risk level of having serious disease, wherein the risk of having bladder cancer and/or serious disease is categorised as: high-risk bladder cancer requiring immediate cystoscopy; low-risk bladder cancer requiring urgent cystoscopy; high-risk control requiring close evaluation and further investigation; or low-risk control requiring primary care monitoring.
    • 本发明提供了一种定义患有膀胱癌的受试者的可能性的方法,包括以下步骤:(A)通过以下步骤评估受试者患有膀胱癌的可能性:i。 识别适合于该受试者的至少一个亚群体组; II。 确定从所述受试者获得的样品中根据所述亚群体组选择的一种或多种生物标志物的水平; III。 将每个生物标记值输入到算法中以产生输出值; 和iv。 将输出值与患有膀胱癌的患者的可能性相关联,其中根据吸烟习惯,性别,存在/不存在石头疾病,良性前列腺增生病史(BPE)或抗高血压药物处方选择亚群体组 ,抗血小板和/或抗溃疡药物,和(B)通过以下方式确定受试者的严重疾病分层风险水平:v。确定一个或多个特定于使用随机森林分类器定义的风险分类器的生物标志物的水平 RFC),逻辑回归或从该主题获得的样本中的其他适当的系统生物学或统计学方法,vi。 将每个生物标记值输入算法或算法以产生输出值; 和vii。 将输出值与潜在严重疾病的分层风险水平相关联,其中膀胱癌的可能性与具有严重疾病的分层风险水平相结合,其中具有膀胱癌和/或严重疾病的风险被分类为:高 膀胱癌需要立即膀胱镜检查; 需要紧急膀胱镜检查的低危膀胱癌; 高风险控制需要进行密切的评估和进一步的调查; 或需要初级保健监测的低风险控制。
    • 68. 发明公开
    • METHOD FOR ASSESSING MYELODYSPLASTIC SYNDROME OR MYELOID TUMOR PREDISPOSITION, POLYPEPTIDE AND ANTIBODY THEREFOR, AND CANDIDATE SCREENING METHOD FOR THERAPEUTIC DRUG OR PROPHYLACTIC DRUG THEREFOR
    • 评估方法倾向骨髓增生异常综合征或骨髓瘤,多肽抗体THEREFOR和候选筛选方法,治疗或预防ACTIVE
    • EP2757153A4
    • 2015-07-15
    • EP12820708
    • 2012-08-02
    • UNIV TOKYO
    • OGAWA SEISHISANADA MASASHIYOSHIDA KENICHI
    • C12N15/09C07K14/47C07K16/18C12Q1/68G01N33/15G01N33/50G01N33/68
    • C12Q1/6886C07K14/47C07K16/18C07K16/30C12Q2600/136C12Q2600/156C12Q2600/158G01N33/57407G01N33/57426
    • [Problem] To provide a method for assessing myelodysplastic syndrome or myeloid tumor predisposition, on the basis of a genetic diagnos-is using massively parallel sequencing technology, as well as a peptide and antibody therefor, and a method for screening for candidate therapeutic drugs or prophylactic drugs for myelodysplastic syndrome or myeloid tumor. [Solution] A method for assessing whether or not there is a predisposition for the occurrence of myelodysplastic syndrome or myeloid tumor, wherein the method comprises a step for using a sample that includes a subject's hu-man genes and detecting a mutation in at least one gene from among the U2AF35 gene, the ZRSR2 gene, the SFRS2 gene, or the SF3B1 gene. The assessment is that there is a predisposition for the occurrence of myelodys-plastic syndrome or myeloid tumor when at least one of the following is de-tected: a substitution from S to F or Y at amino acid 34 of a protein trans-lated from the U2AF35 gene; a substitution from Q to R or P at amino acid 157 of a protein translated from the U2AF35 gene; any inactivating mutation of a protein translated from the ZRSR2 gene, a substitution from P to H, L, or R at amino acid 95 of a protein translated from the SFRS2 gene; or a sub-stitution from K to E at amino acid 700, a substitution from E to D at amino acid 622, a substitution from H to Q or D at amino acid 662, or a substitution from K to N, T, E, or R at amino acid 666 of a protein translated from the SF3B1 gene. Conversely, if these are not detected, the possibility that there is no predisposition may be indirectly assessed.
    • [问题]为了提供assesing骨髓增生异常综合征或骨髓肿瘤易感性,遗传的基础上的方法DIAGNOS-使用大规模平行测序技术,以及肽和抗体为此,和一种方法用于筛选候选治疗药物或 预防药物为骨髓增生异常综合征或骨髓瘤。 [解决方法]一种assesing是否存在用于骨髓增生异常综合征或骨髓瘤的发生,worin该方法包括一个步骤,用于在至少一个使用样品做了包括对象的HU-人基因并检测突变的倾向性的方法 基因从U2AF35基因,该基因ZRSR2,所述SFRS2基因或基因SF3B1之间。 该评估是thatthere为myelodys塑料综合征或骨髓肿瘤的发生的倾向当下列中的至少一个被去保护下:从S到F或Y在蛋白质的氨基酸34的取代由反式迟来 所述U2AF35基因; 自Q至R或P在从所述基因翻译的U2AF35的蛋白质​​的氨基酸157的取代; 的蛋白质的任何失活突变从ZRSR2基因翻译,从P到H,L,或者R在从所述基因翻译的SFRS2的蛋白质的氨基酸95的取代; 或选自K的取代至E在氨基酸700,从向在氨基酸622的取代,以D,选自H的取代至Q或D氨基酸662,或从K至N,T,E取代, 或R在从SF3B1基因翻译的蛋白质的氨基酸666。 相反地​​,如果没有检测到论文的可能性thatthere没有倾向可以间接地评估。