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)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (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) CN112534506B (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
JP7620803B2 (ja) 2018-03-15 2025-01-24 グレイル インコーポレイテッド 組織特異的メチル化マーカー
KR102155044B1 (ko) * 2019-10-08 2020-09-11 주식회사 레피다인 생물학적 시료의 간암 조직 기원 여부를 판별하는 방법
KR102103885B1 (ko) * 2019-10-08 2020-04-24 주식회사 레피다인 생물학적 시료의 간 조직 유래 여부를 판별하는 방법
JP2023516525A (ja) * 2019-12-26 2023-04-20 広州市基准医療有限公司 Ｄｎａメチル化バイオマーカーの組み合わせ、検出方法および試薬キット
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
EP4291677A2 (en) 2021-02-09 2023-12-20 F. Hoffmann-La Roche AG Methods for base-level detection of methylation in nucleic acids
WO2023144704A1 (en) * 2022-01-25 2023-08-03 Gene Solutions Joint Stock Company Systems and methods for detecting tumor dna in mammalian blood
EP4540408A1 (en) 2022-06-14 2025-04-23 F. Hoffmann-La Roche AG 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
MX349568B (es) 2010-11-30 2017-08-03 Univ Hong Kong Chinese Deteccion de aberraciones geneticas o moleculares asociadas con el cancer.
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
CN106232833A (zh) 2014-01-30 2016-12-14 加利福尼亚大学董事会 用于非侵入性诊断的甲基化单体型分析(monod)
EP3132055A2 (en) * 2014-04-14 2017-02-22 Yissum Research and Development Company of the Hebrew University of Jerusalem Ltd. A method and kit for determining the tissue or cell origin of dna
WO2015169947A1 (en) 2014-05-09 2015-11-12 Lifecodexx Ag Detection of dna that originates from a specific cell-type and related methods
EP2942400A1 (en) * 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
JP6722659B2 (ja) 2014-06-04 2020-07-15 クエスト ダイアグノスティクス インベストメンツ インコーポレイテッド 結腸直腸癌のためのメチル化マーカー
ES2879964T3 (es) * 2014-12-12 2021-11-23 Exact Sciences Dev Co Llc Composiciones y métodos para realizar ensayos de detección de metilación
CN109312404A (zh) 2016-01-29 2019-02-05 表观基因组股份有限公司 用于检测血液样品中肿瘤来源DNA的CpG甲基化的方法
JP2019521673A (ja) 2016-06-07 2019-08-08 ザ リージェンツ オブ ザ ユニヴァーシティー オブ カリフォルニア 疾患および状態の分析のためのセルフリーｄｎａメチル化パターン
JP7620803B2 (ja) 2018-03-15 2025-01-24 グレイル インコーポレイテッド 組織特異的メチル化マーカー

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

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