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    MUTATIONS IN PANCREATIC NEOPLASMS
    9.
    发明公开
    MUTATIONS IN PANCREATIC NEOPLASMS 有权
    突变胰腺肿瘤

    公开(公告)号：EP2723896A4

    公开(公告)日：2015-02-18

    申请号：EP12802288

    申请日：2012-06-22

    申请人： UNIV JOHNS HOPKINS

    发明人： VOGELSTEIN BERT ,  KINZLER KENNETH W ,  WU JIAN ,  DIAZ LUIS ,  PAPADOPOULOS NICKOLAS ,  MATTHAEI HANNO ,  HRUBAN RALPH ,  MAITRA ANIRBAN

    IPC分类号： C12Q1/68 ,  C12N15/11

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

    摘要： To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.

    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS
    10.
    发明公开
    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS 有权
    方法和组合物检测和上市的遗传变异

    公开(公告)号：EP1641809A4

    公开(公告)日：2010-05-19

    申请号：EP04752581

    申请日：2004-06-09

    申请人： UNIV JOHNS HOPKINS

    发明人： DRESSMAN DEVIN ,  YAN HAI ,  KINZLER KENNETH W ,  VOGELSTEIN BERT

    IPC分类号： C07H21/04 ,  C12N20060101 ,  C12N15/10 ,  C12Q1/68

    CPC分类号： C12Q1/6858 ,  C07H21/04 ,  C12N15/1075 ,  C12Q1/686 ,  C12Q2565/537 ,  C12Q2563/149 ,  C12Q2563/143

    摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.