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1. WO2020063964 - SECOND GENERATION SEQUENCING-BASED METHOD FOR DETECTING MICROSATELLITE STABILITY AND GENOME CHANGES BY MEANS OF PLASMA

Publication Number WO/2020/063964
Publication Date 02.04.2020
International Application No. PCT/CN2019/109036
International Filing Date 29.09.2019
IPC
C12Q 1/68 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
C12N 15/11 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
11DNA or RNA fragments; Modified forms thereof
G16B 30/00 2019.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30ICT specially adapted for sequence analysis involving nucleotides or amino acids
G16H 50/30 2018.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
30for calculating health indices; for individual health risk assessment
CPC
C12N 15/11
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
11DNA or RNA fragments; Modified forms thereof
C12Q 1/68
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
G16B 30/00
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30ICT specially adapted for sequence analysis involving nucleotides or amino acids
G16H 50/30
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
30for calculating health indices; for individual health risk assessment
Applicants
  • 广州燃石医学检验所有限公司 GUANGZHOU BURNING ROCK DX CO., LTD. [CN]/[CN]
Inventors
  • 汉雨生 HAN, Yusheng
  • 刘成林 LIU, Chenglin
  • 张之宏 ZHANG, Zhihong
  • 张周 ZHANG, Zhou
  • 段飞蝶 DUAN, Feidie
Agents
  • 北京市柳沈律师事务所 LIU, SHEN & ASSOCIATES
Priority Data
201811149011.029.09.2018CN
201811149015.929.09.2018CN
Publication Language Chinese (ZH)
Filing Language Chinese (ZH)
Designated States
Title
(EN) SECOND GENERATION SEQUENCING-BASED METHOD FOR DETECTING MICROSATELLITE STABILITY AND GENOME CHANGES BY MEANS OF PLASMA
(FR) PROCÉDÉ BASÉ SUR UN SÉQUENÇAGE DE SECONDE GÉNÉRATION POUR LA DÉTECTION DE LA STABILITÉ DES MICROSATELLITES ET DE MODIFICATIONS DU GÉNOME GRÂCE AU PLASMA
(ZH) 一种基于二代测序的通过血浆检测微卫星稳定状态和基因组变化的方法
Abstract
(EN)
On the one hand, disclosed in the present invention are a biomarker combination, a kit for detecting same, and use thereof in microsatellite instability (MSI) detection in a plasma sample, non-invasive diagnosis for cancers, preferably rectal cancer (such as intestinal cancer), gastric cancer and endometrial cancer, prognosis evaluation, and selection of treatment regimens or genetic screening. On the other hand, the present invention provides a second generation sequencing-based method for detecting microsatellite instability (MSI) and disease-related genetic mutation by means of plasma, a device for implementing the method, and particularly the use of the detection method in non-invasive diagnosis for cancers, preferably rectal cancer (such as intestinal cancer), gastric cancer and endometrial cancer, prognosis evaluation, and selection of treatment regimens or genetic screening. The present application first provides a plasma MSI detection method, which is capable of determining the microsatellite (MS) state of a sample with high accuracy and sensitivity.
(FR)
La présente invention concerne, d'une part, une combinaison de biomarqueurs, un kit pour leur détection, l'utilisation de celui-ci dans la détection de l'instabilité des microsatellites (MSI) dans un échantillon de plasma, le diagnostic non invasif des cancers, de préférence du cancer rectal (par exemple du cancer intestinal), du cancer gastrique et du cancer de l'endomètre, l'évaluation du pronostic et la sélection de schémas thérapeutique ou le criblage génétique. La présente invention concerne, d'autre part, un procédé basé sur un séquençage de seconde génération pour la détection de l'instabilité des microsatellites (MSI) et d'une mutation génétique associée à une maladie grâce au plasma, un dispositif pour la mise en œuvre du procédé et, en particulier, l'utilisation du procédé de détection dans le diagnostic non invasif des cancers, de préférence du cancer rectal (par exemple du cancer intestinal), du cancer gastrique et du cancer de l'endomètre, l'évaluation du pronostic et la sélection de schémas thérapeutiques ou le criblage génétique. La présente invention concerne d'abord un procédé de détection de la MSI dans le plasma, permettant de déterminer l'état des microsatellites (MS) d'un échantillon avec une précision et une sensibilité élevées.
(ZH)
一方面,本发明公开了生物标志物组合,检测其的试剂盒,及其在血浆样本中的微卫星不稳定(MSI)检测和癌症,优选结直肠癌(例如肠癌)、胃癌或子宫内膜癌的无创诊断,预后评估,治疗方案的选择或遗传筛查中的用途。另一方面,本发明提供了一种基于二代测序,通过血浆检测微卫星不稳定(MSI)和疾病相关基因变异的方法,实施该方法的设备,尤其是该检测方法在癌症,优选结直肠癌(例如肠癌)、胃癌或子宫内膜癌患者的无创诊断,预后评估,选择治疗方案或遗传筛查中的用途。本申请首次提供了血浆MSI检测方法,可以以高准确度高灵敏度判断样本的微卫星(MS)状态。
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