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1. 发明申请

WO2013012927A2 OLIGODENDROGLIOMA DRIVER GENES 审中-公开
标题翻译： OLIGODENDROGLIOMA驱动器基因
公开(公告)号：WO2013012927A2
公开(公告)日：2013-01-24
申请号：PCT/US2012/047211
申请日：2012-07-18
申请人： THE JOHNS HOPKINS UNIVERSITY , DUKE UNIVERSITY , VOGELSTEIN, Bert , KINZLER, Kenneth W. , BETTEGOWDA, Chetan , AGRAWAL, Nishant , PAPADOPOULOS, Nickolas , BIGNER, Darell , YAN, Hai , MCLENDON, Roger
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , BETTEGOWDA, Chetan , AGRAWAL, Nishant , PAPADOPOULOS, Nickolas , BIGNER, Darell , YAN, Hai , MCLENDON, Roger
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6886 , C12Q2600/106 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.
摘要翻译：少突神经胶质瘤是成人中第二常见的恶性脑肿瘤。这些肿瘤通常包含染色体异常，涉及染色体1和染色体1的致晕体融合，导致前者的整个短臂和后者的长臂的损失。为了确定这种改变的分子遗传基础，我们对染色体1p和19q损失进行了7个分离性少突胶质细胞瘤的外切测序。在其他变化中，我们发现在七种病例中的六种中，染色体19q上的CIC（果蝇基因capicua的同系物）被体细胞突变，并且染色体1p上的FUBP1（远上游元件（FUSE）结合蛋白）在两个体系中被体细胞突变的七例。另外27例少突胶质细胞瘤的检查显示有12例和3例分别具有CIC和FUBP1突变的肿瘤，其中58％预计会导致编码蛋白的截短。这些结果表明这些基因在少突胶质细胞的生物学和病理学中的关键作用。

2. 发明授权

EP2734644B1 OLIGODENDROGLIOMA DRIVER GENES 有权
标题翻译： OLIGODENDROGLIOM-TREIBERGENE
公开(公告)号：EP2734644B1
公开(公告)日：2016-12-21
申请号：EP12814956.4
申请日：2012-07-18
申请人： The Johns Hopkins University , Duke University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , BETTEGOWDA, Chetan , AGRAWAL, Nishant , PAPADOPOULOS, Nickolas , BIGNER, Darell , YAN, Hai , MCLENDON, Roger
IPC分类号： C12Q1/68 , A61K39/00
CPC分类号： C12Q1/6886 , C12Q2600/106 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.
摘要翻译：少突胶质瘤是成人中第二常见的恶性脑肿瘤。这些肿瘤通常含有染色体异常，涉及染色体1和染色体1的周期性融合，导致前者的整个短臂和后者的长臂的损失。为了鉴定这一改变的分子遗传基础，我们对染色体1p和19q损失进行了7个分离性少突胶质细胞瘤的外切测序。在其他变化中，我们发现在七种病例中的六种中，染色体19q上的CIC（果蝇基因capicua的同系物）被体细胞突变，并且染色体1p上的FUBP1（远上游元件（FUSE）结合蛋白）在两个体系中被体细胞突变的七例。另外27例少突胶质细胞瘤的检查显示，分别有12例和3例具有CIC和FUBP1突变的肿瘤，其中58％预计会导致编码蛋白的截短。这些结果表明这些基因在少突胶质细胞的生物学和病理学中的关键作用。

3. 发明公开

EP2734644A2 OLIGODENDROGLIOMA DRIVER GENES 有权
标题翻译：少枝胶质细胞驱动性基因
公开(公告)号：EP2734644A2
公开(公告)日：2014-05-28
申请号：EP12814956.4
申请日：2012-07-18
申请人： The Johns Hopkins University , Duke University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , BETTEGOWDA, Chetan , AGRAWAL, Nishant , BIGNER, Darell , YAN, Hai , MCLENDON, Roger ,
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6886 , C12Q2600/106 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.

4. 发明申请

WO2016209703A1 HEAD AND NECK SQUAMOUS CELL CARCINOMA ASSAYS 审中-公开
公开(公告)号：WO2016209703A1
公开(公告)日：2016-12-29
申请号：PCT/US2016/037793
申请日：2016-06-16
申请人： THE JOHNS HOPKINS UNIVERSITY
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , DIAZ, Luis , PAPADOPOULOS, Nickolas , AGRAWAL, Nishant , WANG, Yuxuan , SPRINGER, Simeon
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： We queried DNA from saliva or plasma of 93 HNSCC patients, searching for somatic mutations or human papillomavirus genes, collectively referred to as tumor DNA. When both plasma and saliva were tested, tumor DNA was detected in 96% (95% CI, 84% to 99%) of 47 patients. The fractions of patients with detectable tumor DNA in early- and late-stage disease were 100% (n=10) and 95% (n=37), respectively. Saliva is preferentially enriched for tumor DNA from the oral cavity, whereas plasma is preferentially enriched for tumor DNA from the other sites. Tumor DNA in the saliva and plasma is a valuable biomarker for detection of HNSCC.
摘要翻译：我们从93名HNSCC患者的唾液或血浆中查询DNA，寻找体细胞突变或人乳头瘤病毒基因，统称为肿瘤DNA。当测试血浆和唾液时，检测到47例患者的96％（95％CI，84％至99％）的肿瘤DNA。早期和晚期疾病中可检测肿瘤DNA的患者分数分别为100％（n = 10）和95％（n = 37）。唾液优先从口腔富集肿瘤DNA，而血浆优先从其他部位富集肿瘤DNA。唾液和血浆中的肿瘤DNA是检测HNSCC的有价值的生物标志物。

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