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1. 发明授权

US11773449B2 Profiling and treatment of hypermutant cancer 有权
公开(公告)号：US11773449B2
公开(公告)日：2023-10-03
申请号：US16643636
申请日：2018-08-31
申请人： The Hospital for Sick Children
发明人： Uri Tabori , Adam Shlien
IPC分类号： C12Q1/6886
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/156
摘要： There is provided a method of profiling a tumour, the method comprising determining a relative proportion for each of 96 mutation types, wherein the 96 mutation types are defined as the six possible sequence changes C>A, C>G, C>T, T>A, T>C, or T>G in the context of each of four possible nucleotides (A, C, G, or T) at the position immediately 5′ to the mutation and each of four possible nucleotides at the position immediately 3′ to the mutation; assigning the tumour, using the determined relative proportion for each of the 96 mutation types, to at least one of eight clusters defined herein; and determining at least one tumour characteristic based on the assignment to a cluster.

2. 发明授权

US10597730B2 Method of diagnosing cancer 有权
公开(公告)号：US10597730B2
公开(公告)日：2020-03-24
申请号：US15875362
申请日：2018-01-19
申请人： The Hospital for Sick Children
发明人： Uri Tabori , Pedro Castelo-Branco
IPC分类号： C12Q1/6886
摘要： A method of diagnosing cancer in a mammal is provided. The method includes the steps of determining in a nucleic acid-containing sample from the mammal the degree of DNA methylation of a target region within the hTERT promoter from the nucleotide at about position −157 to the nucleotide at about position −580, or a corresponding target region in a TERT promoter in a mammal other than a human, to yield a sample methylation signature, determining the baseline degree of DNA methylation of the target region in a control sample to yield a control methylation signature, comparing the sample methylation signature to the control methylation signature and rendering a diagnosis of cancer when there is at least 1.5 times more methylation in the sample methylation signature as compared to the control methylation signature. Methods of determining tumour grade and progression, predicting survival and determining whether or not a mammal is a candidate for telomerase-targeted or demethylation therapy are also provided.

3. 发明申请

US20180245161A1 Method of Diagnosing Cancer 审中-公开
公开(公告)号：US20180245161A1
公开(公告)日：2018-08-30
申请号：US15875362
申请日：2018-01-19
申请人： The Hospital for Sick Children
发明人： Uri Tabori , Pedro Castelo-Branco
IPC分类号： C12Q1/6886
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/154 , C12Q2600/16
摘要： A method of diagnosing cancer in a mammal is provided. The method includes the steps of determining in a nucleic acid-containing sample from the mammal the degree of DNA methylation of a target region within the hTERT promoter from the nucleotide at about position −157 to the nucleotide at about position −580, or a corresponding target region in a TERT promoter in a mammal other than a human, to yield a sample methylation signature, determining the baseline degree of DNA methylation of the target region in a control sample to yield a control methylation signature, comparing the sample methylation signature to the control methylation signature and rendering a diagnosis of cancer when there is at least 1.5 times more methylation in the sample methylation signature as compared to the control methylation signature. Methods of determining tumour grade and progression, predicting survival and determining whether or not a mammal is a candidate for telomerase-targeted or demethylation therapy are also provided.

4. 发明授权

US09896732B2 Method of diagnosing cancer comprising detection of the methylation signature in the hTERT promoter 有权
公开(公告)号：US09896732B2
公开(公告)日：2018-02-20
申请号：US14403802
申请日：2013-05-24
申请人： The Hospital for Sick Children
发明人： Uri Tabori , Pedro Castelo-Branco
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/154 , C12Q2600/16
摘要： A method of diagnosing cancer in a mammal is provided. The method includes the steps of determining in a nucleic acid-containing sample from the mammal the degree of DNA methylation of a target region within the hTERT promoter from the nucleotide at about position −157 to the nucleotide at about position −580, or a corresponding target region in a TERT promoter in a mammal other than a human, to yield a sample methylation signature, determining the baseline degree of DNA methylation of the target region in a control sample to yield a control methylation signature, comparing the sample methylation signature to the control methylation signature and rendering a diagnosis of cancer when there is at least 1.5 times more methylation in the sample methylation signature as compared to the control methylation signature. Methods of determining tumor grade and progression, predicting survival and determining whether or not a mammal is a candidate for telomerase-targeted or demethylation therapy are also provided.

5. 发明申请

US20150232941A1 METHOD OF DIAGNOSING CANCER COMPRISING DETECTION OF THE METHYLATION SIGNATURE IN THE HTERT PROMOTER 有权
标题翻译：诊断包含检测甲基化突变体中甲基化标记的癌症的方法
公开(公告)号：US20150232941A1
公开(公告)日：2015-08-20
申请号：US14403802
申请日：2013-05-24
申请人： The Hospital for Sick Children
发明人： Uri Tabori , Pedro Castelo-Branco
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/154 , C12Q2600/16
摘要： A method of diagnosing cancer in a mammal is provided. The method includes the steps of determining in a nucleic acid-containing sample from the mammal the degree of DNA methylation of a target region within the hTERT promoter from the nucleotide at about position −157 to the nucleotide at about position −580, or a corresponding target region in a TERT promoter in a mammal other than a human, to yield a sample methylation signature, determining the baseline degree of DNA methylation of the target region in a control sample to yield a control methylation signature, comparing the sample methylation signature to the control methylation signature and rendering a diagnosis of cancer when there is at least 1.5 times more methylation in the sample methylation signature as compared to the control methylation signature. Methods of determining tumour grade and progression, predicting survival and determining whether or not a mammal is a candidate for telomerase-targeted or demethylation therapy are also provided.
摘要翻译：提供了一种诊断哺乳动物癌症的方法。该方法包括以下步骤：在来自哺乳动物的含核酸样品中确定hTERT启动子内的靶区域的DNA甲基化程度，从约-157位核苷酸到约-580位的核苷酸，或相应的在人类以外的哺乳动物中的TERT启动子中的靶区域，以产生样品甲基化特征，确定对照样品中靶区域的DNA甲基化的基线程度以产生对照甲基化特征，将样品甲基化特征与当与对照甲基化特征相比，当样品甲基化特征中的甲基化为至少1.5倍时，控制甲基化特征并进行诊断。还提供了确定肿瘤等级和进展，预测存活并确定哺乳动物是否是端粒酶靶向或去甲基化疗法的候选者的方法。

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