TWI848941B - 組織特異性甲基化標記 - Google Patents

組織特異性甲基化標記 Download PDF

Info

Publication number
TWI848941B
TWI848941B TW108108991A TW108108991A TWI848941B TW I848941 B TWI848941 B TW I848941B TW 108108991 A TW108108991 A TW 108108991A TW 108108991 A TW108108991 A TW 108108991A TW I848941 B TWI848941 B TW I848941B
Authority
TW
Taiwan
Prior art keywords
cancer
tissue
methylation
target sequence
cell
Prior art date
Application number
TW108108991A
Other languages
English (en)
Chinese (zh)
Other versions
TW202010845A (zh
Inventor
煜明 盧
慧君 趙
君賜 陳
蓋萬霞
吉璐
Original Assignee
美商格瑞爾有限責任公司
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by 美商格瑞爾有限責任公司 filed Critical 美商格瑞爾有限責任公司
Publication of TW202010845A publication Critical patent/TW202010845A/zh
Application granted granted Critical
Publication of TWI848941B publication Critical patent/TWI848941B/zh

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6816—Hybridisation assays characterised by the detection means
    • C12Q1/6823—Release of bound markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B15/00—ICT specially adapted for analysing two-dimensional [2D] or three-dimensional [3D] molecular structures, e.g. structural or functional relations or structure alignment
    • G16B15/30—Drug targeting using structural data; Docking or binding prediction
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/154—Methylation markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Pathology (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
TW108108991A 2018-03-15 2019-03-15 組織特異性甲基化標記 TWI848941B (zh)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201862643649P 2018-03-15 2018-03-15
US62/643,649 2018-03-15
US201862769928P 2018-11-20 2018-11-20
US62/769,928 2018-11-20

Publications (2)

Publication Number Publication Date
TW202010845A TW202010845A (zh) 2020-03-16
TWI848941B true TWI848941B (zh) 2024-07-21

Family

ID=67908065

Family Applications (1)

Application Number Title Priority Date Filing Date
TW108108991A TWI848941B (zh) 2018-03-15 2019-03-15 組織特異性甲基化標記

Country Status (11)

Country Link
US (2) US11884966B2 (https=)
EP (1) EP3766076A4 (https=)
JP (2) JP7620803B2 (https=)
CN (2) CN119955906A (https=)
AU (1) AU2019233897B2 (https=)
CA (1) CA3093971A1 (https=)
IL (1) IL277306A (https=)
PH (1) PH12020551712A1 (https=)
SG (1) SG11202008957VA (https=)
TW (1) TWI848941B (https=)
WO (1) WO2019178496A1 (https=)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2019233897B2 (en) 2018-03-15 2024-10-24 Grail, Inc. Tissue-specific methylation marker
KR102103885B1 (ko) * 2019-10-08 2020-04-24 주식회사 레피다인 생물학적 시료의 간 조직 유래 여부를 판별하는 방법
KR102155044B1 (ko) * 2019-10-08 2020-09-11 주식회사 레피다인 생물학적 시료의 간암 조직 기원 여부를 판별하는 방법
EP4083232A4 (en) * 2019-12-26 2024-03-20 Anchordx Medical Co., Ltd. COMBINATION OF DNA METHYLATION BIOMARKERS, AND ITS DETECTION METHOD AND ASSOCIATED KIT
GB2612447B (en) * 2020-04-24 2025-08-13 Univ Cornell Methods for detecting tissue damage, graft versus host disease, and infections using cell-free DNA profiling
JP7646850B2 (ja) 2021-02-09 2025-03-17 エフ． ホフマン－ラ ロシュ アーゲー 核酸中のメチル化の塩基レベル検出のための方法
WO2023144704A1 (en) * 2022-01-25 2023-08-03 Gene Solutions Joint Stock Company Systems and methods for detecting tumor dna in mammalian blood
US20250361549A1 (en) 2022-06-14 2025-11-27 Roche Sequencing Solutions, Inc. Detection of epigenetic cytosine modification
WO2024112741A1 (en) * 2022-11-23 2024-05-30 Salk Institute For Biological Studies Dna methylation barcodes for identifying brain cells
CN117476222B (zh) * 2023-09-28 2024-10-25 上海交通大学医学院附属瑞金医院 一种肠癌肝转移的风险预测方法、系统和电子设备

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TW201418474A (zh) * 2012-09-20 2014-05-16 香港中文大學 來自血漿之胚胎或腫瘤甲基化模式組（ｍｅｔｈｙｌｏｍｅ）之非侵入性測定
US20160017419A1 (en) * 2014-07-18 2016-01-21 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in a dna mixture

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN105243295B (zh) 2010-11-30 2018-08-17 香港中文大学 与癌症相关的遗传或分子畸变的检测
US9732390B2 (en) * 2012-09-20 2017-08-15 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
US20160340740A1 (en) 2014-01-30 2016-11-24 The Regents Of The University Of California Methylation haplotyping for non-invasive diagnosis (monod)
WO2015159292A2 (en) * 2014-04-14 2015-10-22 Yissum Research Development Company Of The Hebrew University Of Jerusalem Ltd. A method and kit for determining the tissue or cell origin of dna
JP6681841B2 (ja) 2014-05-09 2020-04-15 ライフコーデックス アーゲー 特別な細胞タイプに由来するｄｎａの検出とそれに関連する方法
EP2942400A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
CA2951141C (en) 2014-06-04 2021-11-30 Quest Diagnostics Investments Incorporated Methylated markers for colorectal cancer
CA3183545C (en) * 2014-12-12 2026-01-13 Exact Sciences Corporation Compositions and methods for performing methylation detection assays
DK3408407T3 (da) 2016-01-29 2021-02-08 Epigenomics Ag Fremgangsmåder til påvisning af cpg-methylering af tumorafledt dna i blodprøver
CN110168099B (zh) 2016-06-07 2024-06-07 加利福尼亚大学董事会 用于疾病和病症分析的无细胞dna甲基化模式
AU2019233897B2 (en) 2018-03-15 2024-10-24 Grail, Inc. Tissue-specific methylation marker

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TW201418474A (zh) * 2012-09-20 2014-05-16 香港中文大學 來自血漿之胚胎或腫瘤甲基化模式組（ｍｅｔｈｙｌｏｍｅ）之非侵入性測定
US20160017419A1 (en) * 2014-07-18 2016-01-21 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in a dna mixture

Also Published As

Publication number Publication date
CN112534506B (zh) 2025-03-04
KR20210023804A (ko) 2021-03-04
EP3766076A4 (en) 2021-12-29
US11884966B2 (en) 2024-01-30
TW202010845A (zh) 2020-03-16
PH12020551712A1 (en) 2021-06-21
US20240191282A1 (en) 2024-06-13
CN119955906A (zh) 2025-05-09
SG11202008957VA (en) 2020-10-29
JP7620803B2 (ja) 2025-01-24
EP3766076A1 (en) 2021-01-20
AU2019233897A1 (en) 2020-10-22
AU2019233897B2 (en) 2024-10-24
CN112534506A (zh) 2021-03-19
IL277306A (en) 2020-10-29
JP2024156679A (ja) 2024-11-06
WO2019178496A1 (en) 2019-09-19
CA3093971A1 (en) 2019-09-19
JP2021518107A (ja) 2021-08-02
US20190390257A1 (en) 2019-12-26

Similar Documents

Publication Publication Date Title
TWI848941B (zh) 組織特異性甲基化標記
JP7513653B2 (ja) 無細胞ｄｎａについての体細胞起源または生殖系列起源の識別
US20250340951A1 (en) Identification and use of circulating nucleic acid tumor markers
TWI797095B (zh) 腫瘤檢測之方法及系統
ES3037160T3 (en) Methods and processes for non-invasive assessment of genetic variations
ES2772029T3 (es) Métodos y procesos para la evaluación no invasiva de variaciones genéticas
CN115667554A (zh) 通过核酸甲基化分析检测结直肠癌的方法和系统
CN114026646A (zh) 用于评估肿瘤分数的系统和方法
WO2020192680A1 (en) Determining linear and circular forms of circulating nucleic acids
US20230002831A1 (en) Methods and compositions for analyses of cancer
CN116583904A (zh) 用于癌症分类的样品确认
JP2024542067A (ja) コピー数変化を同定するためのシステム及び方法
JP2025124606A (ja) 液体生検アッセイにおける血液腫瘍遺伝子変異量を決定するための方法およびシステム
KR102954537B1 (ko) 조직 특이적 메틸화 마커
WO2023226939A1 (zh) 用于检测结直肠癌淋巴结转移的甲基化生物标记物及其应用
HK40042779B (zh) 组织特异性的甲基化标志物
HK40042779A (en) Tissue-specific methylation marker
US20250069687A1 (en) Characterization of whole genome duplication in a genomic cohort of over 14000 cell free dna samples
WO2025179073A1 (en) Methods and systems for tissue informed differentially methylated region analysis
JP2025535077A (ja) 癌の多数の分析物検出のためのシステムおよび方法
Nikolaidis DNA methylation-assisted diagnosis of lung cancer in bronchial washings