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    • 5. 发明申请
    • METHODS AND MATERIALS FOR DETECTING COLORECTAL CANCER AND ADENOMA
    • 检测大肠癌和腺瘤的方法和材料
    • WO2011126768A3
    • 2012-02-23
    • PCT/US2011029982
    • 2011-03-25
    • MAYO FOUNDATIONZOU HONGZHIAHLQUIST DAVID A
    • ZOU HONGZHIAHLQUIST DAVID A
    • C12Q1/68C12N15/12
    • C12Q1/6886C12Q2600/112C12Q2600/154C12Q2600/156C12Q2600/158
    • The present invention provides methods and materials related to the detection of colorectal neoplasm-specific markers (e.g., markers associated with colorectal cancer, markers associated with adenoma) in or associated with a subject's stool sample. In particular, the present invention provides methods and materials for identifying mammals (e.g., humans) having a colorectal neoplasm by detecting the presence and level of indicators of colorectal neoplasia such as, for example, long DNA (e.g., quantified by Alu PCR) and the presence and level of tumor-associated gene alterations (e.g., mutations in KRAS, APC, melanoma antigen gene, p53, BRAF, BAT26, PIK3CA) or epigenetic alterations (e.g., DNA methylation) (e.g., CpG methylation) (e.g., CpG methylation in coding or regulatory regions of bmp-3, bmp-4, SFRP2, vimentin, septin9, ALX4, EYA4, TFPI2, NDRG4, FOXE1) in DNA from a stool sample obtained from the mammal.
    • 本发明提供与检测对象粪便样品中或与对象粪便样品相关的结肠直肠肿瘤特异性标志物(例如与结直肠癌相关的标志物,与腺瘤相关的标志物)有关的方法和材料。 具体而言,本发明提供了用于通过检测结肠直肠瘤形成指标例如长DNA(例如,通过Alu PCR定量)的指标的存在和水平来鉴定具有结肠直肠肿瘤的哺乳动物(例如,人)的方法和材料, (例如,KRAS,APC,黑素瘤抗原基因,p53,BRAF,BAT26,PIK3CA中的突变)或表观遗传改变(例如DNA甲基化)(例如CpG甲基化)(例如CpG 甲基化在来自哺乳动物获得的粪便样品的DNA中的bmp-3,bmp-4,SFRP2,波形蛋白,septin9,ALX4,EYA4,TFPI2,NDRG4,FOXE1)的编码区或调节区中。
    • 6. 发明申请
    • METHODS AND MATERIALS FOR DETECTING COLORECTAL CANCER AND ADENOMA
    • 检测彩色癌和腺癌的方法和材料
    • WO2011126768A9
    • 2012-04-05
    • PCT/US2011029982
    • 2011-03-25
    • MAYO FOUNDATIONZOU HONGZHIAHLQUIST DAVID A
    • ZOU HONGZHIAHLQUIST DAVID A
    • C12Q1/68C12N15/12
    • C12Q1/6886C12Q2600/112C12Q2600/154C12Q2600/156C12Q2600/158
    • The present invention provides methods and materials related to the detection of colorectal neoplasm-specific markers (e.g., markers associated with colorectal cancer, markers associated with adenoma) in or associated with a subject's stool sample. In particular, the present invention provides methods and materials for identifying mammals (e.g., humans) having a colorectal neoplasm by detecting the presence and level of indicators of colorectal neoplasia such as, for example, long DNA (e.g., quantified by Alu PCR) and the presence and level of tumor-associated gene alterations (e.g., mutations in KRAS, APC, melanoma antigen gene, p53, BRAF, BAT26, PIK3CA) or epigenetic alterations (e.g., DNA methylation) (e.g., CpG methylation) (e.g., CpG methylation in coding or regulatory regions of bmp-3, bmp-4, SFRP2, vimentin, septin9, ALX4, EYA4, TFPI2, NDRG4, FOXE1) in DNA from a stool sample obtained from the mammal.
    • 本发明提供与检测与受试者粪便样品相关的结肠直肠肿瘤特异性标志物(例如,与结肠直肠癌相关的标志物,与腺瘤相关的标志物)相关的方法和材料。 特别地,本发明提供了通过检测结肠直肠瘤形成指标(例如长DNA(例如,通过Alu PCR定量))的存在和水平来鉴定具有结肠直肠肿瘤的哺乳动物(例如,人)的方法和材料,以及 肿瘤相关基因改变(例如,KRAS,APC,黑素瘤抗原基因,p53,BRAF,BAT26,PIK3CA中的突变)或表观遗传改变(例如,DNA甲基化)(例如,CpG甲基化)(例如,CpG 在来自哺乳动物的粪便样品的DNA中,bmp-3,bmp-4,SFRP2,波形蛋白,septin9,ALX4,EYA4,TFPI2,NDRG4,FOXE1的编码或调节区中的甲基化)。
    • 7. 发明申请
    • METHYLATION ASSAY
    • 甲基化测定
    • WO2012067830A2
    • 2012-05-24
    • PCT/US2011058997
    • 2011-11-02
    • EXACT SCIENCES CORPZOU HONGZHILIDGARD GRAHAM PDOMANICO MICHAEL JALLAWI HATIM
    • ZOU HONGZHILIDGARD GRAHAM PDOMANICO MICHAEL JALLAWI HATIM
    • C12Q1/68
    • C12Q1/6886C12Q1/6827C12Q2600/154C12Q2521/301C12Q2523/125C12Q2561/109
    • A method for detecting a methylated genomic locus is provided. In certain embodiments, the method comprises: a) treating a nucleic acid sample that contains both unmethylated and methylated copies of a genomic locus with an agent that modifies cytosine to uracil to produce a treated nucleic acid; b) amplifying a product from the treated nucleic acid using a first primer and a second primer, wherein the first primer hybridizes to a site in the locus that contain methylcytosines and the amplifying preferentially amplifies the methylated copies of the genomic locus, to produce an amplified sample; and c) detecting the presence of amplified methylated copies of the genomic locus in the amplified sample using a flap assay that employs an invasive oligonucleotide having a 3' terminal G or C nucleotide that corresponds to a site of methylation in the genomic locus.
    • 提供了一种检测甲基化基因组座位的方法。 在某些实施方案中,所述方法包括:a)将含有基因组座位的非甲基化和甲基化拷贝的核酸样品用修饰胞嘧啶至尿嘧啶的试剂处理以产生经处理的核酸; b)使用第一引物和第二引物扩增来自经处理的核酸的产物,其中第一引物与含有甲基胞嘧啶的位点的位点杂交,并且扩增优先扩增基因组基因座的甲基化拷贝,以产生扩增的 样品; 和c)使用采用具有对应于基因组基因座中的甲基化位点的3'末端G或C核苷酸的侵入性寡核苷酸的皮瓣测定来检测扩增样品中扩增的基因组座位的扩增的甲基化拷贝的存在。