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31. 发明授权

EP2726869B1 SOMATIC MUTATIONS IN ATRX IN BRAIN CANCER 有权
标题翻译： ATRX在脑癌中的体细胞突变
公开(公告)号：EP2726869B1
公开(公告)日：2017-08-09
申请号：EP12804757.8
申请日：2012-06-28
申请人： Duke University , The Johns Hopkins University
发明人： YAN, Hai , BIGNER, Darell , VOGELSTEIN, Bert , KINZLER, Kenneth W. , MEEKER, Alan , HRUBAN, Ralph , PAPADAPOULOS, Nickolas , DIAZ, Luis , JIAO, Yuchen
IPC分类号： G01N33/53 , C12Q1/68 , A61K39/00 , A61K31/7105
CPC分类号： C12Q1/6886 , C07K16/40 , C12N15/1137 , C12Q2600/118 , C12Q2600/156 , G01N33/57407
摘要： We determined the sequence of ATRX and DAXX in 447 cancers from various sites. We found mutations most commonly in pediatric glioblastoma multiformae (GBM) (11.1%), adult GBM (6.5%), oligodendrogliomas (7.7%) and medulloblastomas (1.5%); and showed that Alternative Lengthening of Telomeres (ALT), a telomerase-independent telomere maintenance mechanism found in cancers that have not activated telomerase, perfectly correlated with somatic mutations of either gene. In contrast, neuroblastomas, and adenocarcinomas of the ovary, breast, and pancreas were negative for mutations in ATRX and DAXX. Alterations in ATRX or DAXX define a specific molecular pathway that is closely associated with an alternative telomere maintenance function in human cancers.
摘要翻译：我们在来自不同地点的447种癌症中确定了ATRX和DAXX的序列。我们发现小儿胶质母细胞瘤多形性（GBM）（11.1％），成人GBM（6.5％），少突胶质细胞瘤（7.7％）和成神经管细胞瘤（1.5％）中最常见突变; 并表明端粒替代延长（ALT）是一种端粒酶非依赖性端粒维持机制，在未激活端粒酶的癌症中发现，与任一基因的体细胞突变完全相关。相反，神经母细胞瘤和卵巢癌，乳腺癌和胰腺腺癌的ATRX和DAXX突变均为阴性。 ATRX或DAXX的改变定义了与人类癌症中替代的端粒维持功能密切相关的特定分子途径。

32. 发明授权

EP2536854B1 PERSONALIZED TUMOR BIOMARKERS 有权
标题翻译：个性化肿瘤生物标志物
公开(公告)号：EP2536854B1
公开(公告)日：2017-07-19
申请号：EP11745196.3
申请日：2011-02-17
申请人： The Johns Hopkins University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , VELCULESCU, Victor , DIAZ, Luis , LEARY, Rebecca J.
IPC分类号： C12Q1/68 , C12N15/11 , C40B40/06
CPC分类号： C12Q1/6886 , C12Q2600/156
摘要： Clinical management of human cancer is dependent on the accurate monitoring of residual and recurrent tumors. We have developed a method, called personalized analysis of rearranged ends (PARE), which can identify translocations in solid tumors. Analysis of four colorectal and two breast cancers revealed an average of nine rearranged sequences (range 4 to 15) per tumor. Polymerase chain reaction with primers spanning the breakpoints were able to detect mutant DNA molecules present at levels lower than 0.001% and readily identified mutated circulating DNA in patient plasma samples. This approach provides an exquisitely sensitive and broadly applicable approach for the development of personalized biomarkers to enhance the clinical management of cancer patients.
摘要翻译：人类癌症的临床管理依赖于准确监测残留和复发性肿瘤。我们开发了一种称为重排末端的个性化分析（PARE）的方法，可以识别实体瘤中的易位。对四个结直肠癌和两个乳腺癌的分析显示每个肿瘤平均有9个重排序列（范围4-15）。使用跨越断点的引物进行的聚合酶链式反应能够检测到存在的水平低于0.001％的突变DNA分子，并且易于鉴定患者血浆样品中的突变循环DNA。这种方法为开发个性化生物标志物以提高癌症患者的临床管理提供了一种非常灵敏和广泛适用的方法。

33. 发明公开

EP2726869A2 SOMATIC MUTATIONS IN ATRX IN BRAIN CANCER 有权
标题翻译： SOMATISCHE ATRX-MUTATIONEN BEI HIRNKREBS
公开(公告)号：EP2726869A2
公开(公告)日：2014-05-07
申请号：EP12804757.8
申请日：2012-06-28
申请人： Duke University , The Johns Hopkins University
发明人： YAN, Hai , BIGNER, Darell , VOGELSTEIN, Bert , KINZLER, Kenneth W. , MEEKER, Alan , HRUBAN, Ralph , PAPADAPOULOS, Nickolas , DIAZ, Luis , JIAO, Yuchen
IPC分类号： G01N33/53 , C12Q1/68 , A61K39/00 , A61K31/7105
CPC分类号： C12Q1/6886 , C07K16/40 , C12N15/1137 , C12Q2600/118 , C12Q2600/156 , G01N33/57407
摘要： We determined the sequence of ATRX and DAXX in 447 cancers from various sites. We found mutations most commonly in pediatric glioblastoma multiformae (GBM) (11.1%), adult GBM (6.5%), oligodendrogliomas (7.7%) and medulloblastomas (1.5%); and showed that Alternative Lengthening of Telomeres (ALT), a telomerase-independent telomere maintenance mechanism found in cancers that have not activated telomerase, perfectly correlated with somatic mutations of either gene. In contrast, neuroblastomas, and adenocarcinomas of the ovary, breast, and pancreas were negative for mutations in ATRX and DAXX. Alterations in ATRX or DAXX define a specific molecular pathway that is closely associated with an alternative telomere maintenance function in human cancers.
摘要翻译：我们确定了来自各个位点的447例癌症中ATRX和DAXX的序列。我们发现多形性小儿成釉细胞瘤（GBM）（11.1％），成人GBM（6.5％），少突神经胶质瘤（7.7％）和成神经管细胞瘤（1.5％）中最常见的突变; 并且表明，在未激活端粒酶的癌症中发现端粒酶不依赖端粒维持机制的替代延长端粒（ALT）与任一基因的体细胞突变完全相关。相比之下，ATRX和DAXX中的突变，母细胞瘤和卵巢癌，乳腺癌和胰腺癌的腺癌阴性。 ATRX或DAXX中的改变定义了与人类癌症中替代端粒维持功能密切相关的特定分子途径。

34. 发明公开

EP2417270A2 DIGITAL QUANTIFICATION OF DNA METHYLATION 有权
标题翻译： DNA甲基化的定量数字
公开(公告)号：EP2417270A2
公开(公告)日：2012-02-15
申请号：EP10762298.7
申请日：2010-04-06
申请人： The Johns Hopkins University , Case Western Reserve University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth, W. , LI, Meng , DIAZ, Luis , PAPADOPOULOS, Nickolas , MARKOWITZ, Sanford
IPC分类号： C12Q1/68 , C12N15/11 , G01N33/52
CPC分类号： C12Q1/6816 , C12Q1/6886 , C12Q2600/154 , C12Q2565/501 , C12Q2527/125 , C12Q2523/125
摘要： Abnormal DNA methylation can be used as a biomarker in cancer patients. For such purposes, it is important to determine precisely the fraction of methylated molecules in an analyzed sample. A technology we term Methyl-BEAMing achieves this goal. Individual bisulfite-treated DNA molecules can be PCR-amplified within aqueous nanocompartments containing beads, resulting in a population of beads each containing thousands of copies of the template molecule. After hybridization with probes specific for methylated sequences, the beads can be analyzed by flow cytometry. This approach enables detection and enumeration of one methylated molecule in a population of ~5000 unmethylated molecules. Methyl-BEAMing provides digital quantification of rare methylation events and is generally applicable to the assessment of methylated genes in clinical samples.

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