公开(公告)号：EP2726869A4

公开(公告)日：2015-03-11

申请号：EP12804757

申请日：2012-06-28

申请人： UNIV DUKE ,  UNIV JOHNS HOPKINS

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 ,  A61K31/7105 ,  A61K39/00 ,  C12Q1/68

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.

公开(公告)号：EP2607498B1

公开(公告)日：2017-05-03

申请号：EP13160496

申请日：2009-09-03

申请人： UNIV JOHNS HOPKINS ,  UNIV DUKE

发明人： VOGELSTEIN BERT ,  KINZLER KENNETH ,  PARSONS WILLIAMS ,  ZHANG XIAOSONG ,  LIN JIMMY CHENG-HO ,  LEARY REBECCA ,  ANGENENDT PHILIPP ,  PAPADOPOULOS NICKOLAS ,  VELCULESCU VICTOR ,  PARMIGIANI GIOVANNI ,  KARCHIN RACHEL ,  JONES SIAN ,  YAN HAI ,  BIGNER DARELL ,  KUAN CHIEN-TSUN ,  RIGGINS GREGORY

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156

公开(公告)号：EP2734644A4

公开(公告)日：2015-03-18

申请号：EP12814956

申请日：2012-07-18

申请人： UNIV JOHNS HOPKINS ,  UNIV DUKE

发明人： VOGELSTEIN BERT ,  KINZLER KENNETH W ,  BETTEGOWDA CHETAN ,  AGRAWAL NISHANT ,  BIGNER DARELL ,  YAN HAI ,  MCLENDON ROGER

IPC分类号： C12Q1/68

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.

公开(公告)号：EP2861619A4

公开(公告)日：2016-01-27

申请号：EP13800038

申请日：2013-06-07

申请人： UNIV DUKE ,  US GOVERNMENT

发明人： BIGNER DARELL ,  KUAN CHIEN-TSUN ,  SAMPSON JOHN ,  CHOI BRYAN ,  PASTAN IRA H ,  GEDEON PATRICK C

IPC分类号： C07K16/28 ,  A61K39/395 ,  A61P35/00 ,  C12N15/13

CPC分类号： C07K16/2863 ,  A61K2039/505 ,  C07K16/2809 ,  C07K2317/21 ,  C07K2317/31 ,  C07K2317/56 ,  C07K2317/622 ,  C07K2317/92 ,  C12N15/11

公开(公告)号：EP3186399A4

公开(公告)日：2018-07-18

申请号：EP15837033

申请日：2015-08-24

申请人： UNIV DUKE

发明人： YAN HAI ,  HE YIPING ,  YANG RUI ,  DIPLAS BILL H ,  HANSEN LANDON ,  BIGNER DARELL

IPC分类号： C12Q1/68 ,  C12N15/10 ,  C12P19/34

CPC分类号： C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/166

摘要： Methods that rapidly, sensitively, and specifically detect mutations in IDH1/2 and the TERT promoter employ amplification of particular portions of the genes that experience frequent and exquisitely localized mutations. The ability to distinguish between sequences that differ only by one nucleotide and which may be present in very low ratios is essential for such an assay.

公开(公告)号：EP3099776A4

公开(公告)日：2017-10-04

申请号：EP15743712

申请日：2015-01-26

申请人： UNIV DUKE

发明人： YAN HAI ,  BIGNER DARELL ,  KILLELA PATRICK ,  REITMAN ZACHARY

IPC分类号： C12M1/34 ,  C12Q1/68

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/156