SG11201408113QA - Mutational analysis of plasma dna for cancer detection - Google Patents
Mutational analysis of plasma dna for cancer detectionInfo
- Publication number
- SG11201408113QA SG11201408113QA SG11201408113QA SG11201408113QA SG11201408113QA SG 11201408113Q A SG11201408113Q A SG 11201408113QA SG 11201408113Q A SG11201408113Q A SG 11201408113QA SG 11201408113Q A SG11201408113Q A SG 11201408113QA SG 11201408113Q A SG11201408113Q A SG 11201408113QA
- Authority
- SG
- Singapore
- Prior art keywords
- lllll
- international
- hong kong
- sar
- llll
- Prior art date
Links
- 206010028980 Neoplasm Diseases 0.000 title abstract 5
- 201000011510 cancer Diseases 0.000 title abstract 4
- 238000001514 detection method Methods 0.000 title abstract 2
- 230000000869 mutational effect Effects 0.000 title abstract 2
- 206010069754 Acquired gene mutation Diseases 0.000 abstract 1
- 239000012472 biological sample Substances 0.000 abstract 1
- 238000012544 monitoring process Methods 0.000 abstract 1
- 230000008520 organization Effects 0.000 abstract 1
- 238000012216 screening Methods 0.000 abstract 1
- 210000002966 serum Anatomy 0.000 abstract 1
- 230000037439 somatic mutation Effects 0.000 abstract 1
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- 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
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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- 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
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- 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
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- B—PERFORMING OPERATIONS; TRANSPORTING
- B01—PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
- B01J—CHEMICAL OR PHYSICAL PROCESSES, e.g. CATALYSIS OR COLLOID CHEMISTRY; THEIR RELEVANT APPARATUS
- B01J19/00—Chemical, physical or physico-chemical processes in general; Their relevant apparatus
- B01J19/0046—Sequential or parallel reactions, e.g. for the synthesis of polypeptides or polynucleotides; Apparatus and devices for combinatorial chemistry or for making molecular arrays
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- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
- C12N15/1034—Isolating an individual clone by screening libraries
- C12N15/1065—Preparation or screening of tagged libraries, e.g. tagged microorganisms by STM-mutagenesis, tagged polynucleotides, gene tags
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- 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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- 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6853—Nucleic acid amplification reactions using modified primers or templates
- C12Q1/6855—Ligating adaptors
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
- G01N33/574—Immunoassay; Biospecific binding assay; Materials therefor for cancer
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- 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
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- 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
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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
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- C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
- C12Q2525/10—Modifications characterised by
- C12Q2525/191—Modifications characterised by incorporating an adaptor
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- C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
- C12Q2535/122—Massive parallel sequencing
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- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
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- C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
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- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
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- C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio
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- C12Q2539/107—Representational Difference Analysis [RDA]
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
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- C12Q2600/00—Oligonucleotides characterized by their use
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- C12Q2600/00—Oligonucleotides characterized by their use
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Abstract
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 27 December 2013 (27.12.2013) WIPOIPCT (10) International Publication Number WO 2013/190441 A3 (51) International Patent Classification: C12Q 1/68 (2006.01) (21) International Application Number: (22) International Filing Date: (25) Filing Language: (26) Publication Language: PCT/IB2013/054898 14 June 2013 (14.06.2013) English English (30) Priority Data: 61/662,878 61/682,725 61/695,795 61/711,172 13/801,748 21 June 2012 (21.06.2012) US 13 August 2012 (13.08.2012) US 31 August 2012 (31.08.2012) US 8 October 2012 (08.10.2012) US 13 March 2013 (13.03.2013) US (71) Applicant: THE CHINESE UNIVERSITY OF HONG KONG [CN/CN]; Knowledge Transfer Office, Shatin, New Territories, Hong Kong, SAR (CN). (72) Inventor; and (71) Applicant CHIU, : Wai, Kwun, Rossa [AU/CN]; House 31, Double Haven, 52 Ma Lok Path, Shatin, New Territor ies, Hong Kong (CN). (72) Inventors: LO, Yuk-Ming, Dennis; 4th Floor, 7King Tak Street, Homantin Kowloon, Hong Kong (SAR) (CN). CHAN, Kwan, Chee; Flat A, 13/F, Block 34, Broadway Street, Mei Foo Sun Chuen, Kowloon, Hong Kong SAR (CN). JIANG, Peiyong; Flat 7. 1st floor of Block B, Kwong Lam Court, Nos 62-66 Siu Lek Yuen Road, Shatin New Territories, Hong Kong SAR (CN). (74) Agent: GRIFFITH HACK & CO; Level 10, 161 Collins Street, Melbourne, Victoria 3000 (AU). (81) Designated States (unless otherwise indicated, for every kind of national protection available)'. AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (84) Designated States (unless otherwise indicated, for every kind of regional protection available)'. ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, [Continued on next page] (54) Title: MUTATIONAL ANALYSIS OF PLASMA DNA FOR CANCER DETECTION Receive one or mare sequenced tags for each of a plurality of D.N A fragTaeDts m a biological >amaic of the ss;bjecl genomic positions for tlie ^tqu-Jiiced i; (57) Abstract: A frequency of somatic mutations in biological sample a (e.g., plasma or serum) of a subject undergoing screening or monitoring for cancer, can be compared with that in the constitutional DNA of the same subject. A parameter can derived from these frequencies and used to determine a classi fication of a level of cancer. False positives can be filtered out by requiring any variant locus to have at least a specified number of variant sequence reads (tags), thereby providing a more accurate parameter. The relative frequencies for different variant loci can be analyzed to determine level of heterogeneity a of tumors in a patient. Determine a first n N sequence h? rhe co a sequence variant retain s tutiona^ genome WO 2013/190441 A3 I lllll llllllll II llllll III lllll lllll III III III lllll lllll lllll lllll llll lllll lllllll llll llll llll EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Published: — with international search report (Art. 21(3)) — before the expiration of the time limit for amending the claims and to be republished in the event of receipt of amendments (Rule 48.2(h)) (88) Date of publication of the international search report: 27 February 2014
Applications Claiming Priority (6)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201261662878P | 2012-06-21 | 2012-06-21 | |
US201261682725P | 2012-08-13 | 2012-08-13 | |
US201261695795P | 2012-08-31 | 2012-08-31 | |
US201261711172P | 2012-10-08 | 2012-10-08 | |
US13/801,748 US11261494B2 (en) | 2012-06-21 | 2013-03-13 | Method of measuring a fractional concentration of tumor DNA |
PCT/IB2013/054898 WO2013190441A2 (en) | 2012-06-21 | 2013-06-14 | Mutational analysis of plasma dna for cancer detection |
Publications (1)
Publication Number | Publication Date |
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SG11201408113QA true SG11201408113QA (en) | 2015-01-29 |
Family
ID=52274459
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
SG11201408113QA SG11201408113QA (en) | 2012-06-21 | 2013-06-14 | Mutational analysis of plasma dna for cancer detection |
SG10201808217WA SG10201808217WA (en) | 2012-06-21 | 2013-06-14 | Mutational analysis of plasma dna for cancer detection |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
SG10201808217WA SG10201808217WA (en) | 2012-06-21 | 2013-06-14 | Mutational analysis of plasma dna for cancer detection |
Country Status (19)
Country | Link |
---|---|
US (3) | US11261494B2 (en) |
EP (3) | EP3456843B1 (en) |
JP (4) | JP6371280B2 (en) |
KR (5) | KR101884909B1 (en) |
CN (3) | CN113151474A (en) |
AU (4) | AU2013278994C1 (en) |
CA (2) | CA3080937A1 (en) |
DK (2) | DK3456843T3 (en) |
EA (2) | EA202092900A3 (en) |
ES (2) | ES2894479T3 (en) |
HK (3) | HK1204013A1 (en) |
HU (1) | HUE056915T2 (en) |
IL (5) | IL311127A (en) |
MX (3) | MX360264B (en) |
PT (1) | PT3456843T (en) |
SG (2) | SG11201408113QA (en) |
TW (4) | TWI636255B (en) |
WO (1) | WO2013190441A2 (en) |
ZA (1) | ZA201409281B (en) |
Cited By (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US11168370B2 (en) | 2015-02-10 | 2021-11-09 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening |
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US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
KR20130113447A (en) | 2010-09-24 | 2013-10-15 | 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 | Direct capture, amplification and sequencing of target dna using immobilized primers |
EP3225697A3 (en) | 2010-12-30 | 2017-11-22 | Foundation Medicine, Inc. | Optimization of multigene analysis of tumor samples |
US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
US20150011396A1 (en) | 2012-07-09 | 2015-01-08 | Benjamin G. Schroeder | Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing |
US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
EP3591073B1 (en) | 2012-09-04 | 2021-12-01 | Guardant Health, Inc. | Methods to detect rare mutations and copy number variation |
US20160040229A1 (en) | 2013-08-16 | 2016-02-11 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
US10876152B2 (en) | 2012-09-04 | 2020-12-29 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
CN113337604A (en) | 2013-03-15 | 2021-09-03 | 莱兰斯坦福初级大学评议会 | Identification and use of circulating nucleic acid tumor markers |
US9822408B2 (en) | 2013-03-15 | 2017-11-21 | Nugen Technologies, Inc. | Sequential sequencing |
CN105849264B (en) | 2013-11-13 | 2019-09-27 | 纽亘技术公司 | For identifying the composition and method that repeat sequencing reading |
EP3524694B1 (en) | 2013-12-28 | 2020-07-15 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
RU2717641C2 (en) * | 2014-04-21 | 2020-03-24 | Натера, Инк. | Detection of mutations and ploidy in chromosomal segments |
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