WO1995016792A1 - Methode pour le diagnostic de cancers - Google Patents
Methode pour le diagnostic de cancers Download PDFInfo
- Publication number
- WO1995016792A1 WO1995016792A1 PCT/IB1994/000414 IB9400414W WO9516792A1 WO 1995016792 A1 WO1995016792 A1 WO 1995016792A1 IB 9400414 W IB9400414 W IB 9400414W WO 9516792 A1 WO9516792 A1 WO 9516792A1
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- dna
- mutations
- gene
- detection
- deletions
- Prior art date
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Classifications
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- 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
-
- 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
- C12Q2600/156—Polymorphic or mutational markers
Definitions
- the present invention relates to a method for diagnosing and / or monitoring the development of various types of cancer after a chemotherapy treatment or after an operation.
- the aim of this invention therefore consists in providing a method for diagnosing cancers which is on the one hand more precise and more reliable and on the other hand which is easier to perform and does not involve an invasive test on patients.
- the method for diagnosing and / or monitoring the development of cancers comprises the analysis of deoxyribonucleic acid (DNA) present in the blood plasma. It has now been shown that patients with various cancer diseases have increased levels of DNA in the blood plasma.
- the diagnostic method according to the invention is therefore based on the detection of gene mutations in this plasma DNA, blood plasma being a human material much more easily accessible than biopsies of tumors for example. Thus, mutations of oncogenes are frequently demonstrated in many types of malignant tumors, and among them mutations in the ras gene are particularly significant.
- the method can be applied to any gene modification specific to the DNA of cancer cells, such as mutations or deletions of ras, APC, DCC, P53 genes, etc. or any oncogene or antioncogen (tumor suppressing gene) or modifications of microsa ⁇ tellites. It has even been observed that different mutations of the ras genes detected in the DNA of the blood plasma could be absent in the DNA of the peripheral blood cells or in the case of certain leukemic patients of the bone marrow, which tends to confirm the greater reliability of the method according to the invention in comparison with known diagnostic methods.
- the diagnostic method according to the invention consists in extracting DNA from the blood plasma, in purifying and amplifying this DNA, then in determining the gene mutations or deletions therein, this in principle. compares between the blood plasma of a presumed sick person and that of healthy people.
- the scope of the present invention extends to any technique for extracting, purifying and amplifying DNA from blood plasma; similarly, any method of determining gene mutations can be used.
- Example 1 Diagnosis of colon cancer by detection of mutations in the K-ras gene.
- Blood samples (20-30 ml) from 15 patients with different stages of colorectal adenocarcinoma were taken from heparin, these patients having received no anti-cancer medication during this period. Thirteen of the 15 patients then underwent surgical removal of the tumor; similarly, a total of about 400 ml of blood was also taken from healthy people to isolate DNA from the plasma.
- the DNA was extracted from tumors and blood cells using standard techniques which are well known.
- the plasma is first subjected to treatments with phenol, ether and choloroform. After dialysis against SSC (0.15 M sodium chloride, 0.015 M trisodium citrate), the product is passed through a Concanavalin A-Sepharose column in order to remove the polysaccharides, then it is centrifuged in a gradient of CS2SO .
- the DNA thus extracted and purified (10 to 100 ng) was then subjected to a PCR amplification of the first exon of the K-ras gene in a volume of 100 ⁇ l.
- the amplimers were 5'-GACTGAATATAAACTTGTGGTAGT-3 'and 5' -CTATTGTTGGATCATATTCGTCC-3 '.
- the amplifications were carried out in a buffer containing 50 mM of KC1, 10 mM of Tris-MCI at pH 0.3, 200 mM of each nucleotide, 1.8 mM of MgCl2 0, 2 ⁇ M of each precursor and 2.5 units of " AmpliTaq "DNA polymerase. 35 cycles were performed for DNA from tumors and blood cells and 45 cycles for DNA from plasma (94 ° C for 1 min., 59 ° C for 1.5 min., 72 ° C for 1 min., the last cycle being extended by 7 min at 72 ° C).
- PCR products were placed in equal quantities on "Zeta-probe" membranes (Bio-Rad, Hercules, CA) and hybridized with specific oligonucleotides for mutant or wild-type K-ras.
- the oligonucleotides were labeled with 32P ddATP (Amersham, GB).
- the final washing of the membranes was carried out in a solution containing 3M tetramethylamonnium chloride, 50 mM Tris-HCl at pH 8.0 and 0.2 mM EDTA and 0.1 % SDS at 58 ° C for 1 hour.
- the DNA is subjected to PCR amplification with amplimers complementary to the normal GLY sequences or mutated ALA, VAL, SER, ASP or CYS.
- the amplifiers specific to the mutations have 3 ′ terminations complementary to the mutations at the specific point.
- the Taq I polymerase enzyme Perkin-Elmer Cetus, CH, has no 3 'exonuclease activity and is therefore unable to amplify DNA if the mismatch of a single base is located at terminal 3 'to amplify it.
- Each PCR was carried out in a volume of 40 ⁇ l of a solution containing 50 mM of KC1, 10 mM of Tris-HCl at pH 8.3, 2 mM of each nucleotide, 0.7 mM MgC12, 0.2 mM of each precursor and 1 unit of "AmpliTaq" DNA polymerase. Thirty-five cycles were performed (94 ° C for 1 min., Annealing at 55-62 ° C for 2 min., Extension at 72 ° C for 1 min,). The last cycle was extended by 7 min. at 72 ° C. Each reaction was initiated with the "hot-start" technique.
- the amplimers used were: 5 '-ACTTGTGGTAGTTGGAGCTGG-3' for wild K-ras (recoration at 55 ° C), 5 '-ACTTGTGGTAGTTGGAGCTGC-3' for the mutant ALA 12 (renaturation at 62 ° C),
- reaction products were analyzed by electrophoresis in a 0.8% polyacrylamide gel.
- Example 2 Diagnosis of cancers due to myeloid disorders by detection of mutations in the N-ras gene.
- MDS myelodysplastic syndrome
- AML acute myeloblastic leukemia
- the DNA of the blood cells and of the marrow was isolated by treatment with Proteinase K (Merck, DE) in the presence of SDS, then extraction with phenol, precipitation with ethanol and gradient of CS2SO4.
- the plasma DNA was extracted as described in Example 1.
- the DNA (10-100 ng) was amplified in a volume of 100 ⁇ l.
- the amplimers used (Oncogene Science, NY, USA) were 5'-GACTGAGTACAAACTGGTGG-3 'and
- the results of the analyzes obtained confirm that the DNA of sick patients had one or more mutations in codon 12 (GLY in CYS or ASP) or codon 13 (GLY in CYS) of the N-ras gene, whereas all of these mutations could not be identified in the DNA of blood cells, or even in that of the bone marrow.
- the analysis of the DNA of the blood plasma can constitute a method of diagnosis and of monitoring the evolution of a cancerous disease which is more practical, less traumatic ( simple blood sampling from the patient) and sometimes even more reliable than known methods involving the taking of a biopsy.
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- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Physics & Mathematics (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Hospice & Palliative Care (AREA)
- Biophysics (AREA)
- Oncology (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
Description
Claims
Priority Applications (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US08/663,230 US5952170A (en) | 1993-12-16 | 1994-12-13 | Method for diagnosing cancers |
GB9612528A GB2299166B (en) | 1993-12-16 | 1994-12-13 | Cancer diagnosis by detection of gene mutations in the DNA fro blood plasma |
AU10756/95A AU1075695A (en) | 1993-12-16 | 1994-12-13 | Method for diagnosing cancer |
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CH3761/93-3 | 1993-12-16 | ||
CH03761/93A CH686982A5 (fr) | 1993-12-16 | 1993-12-16 | Méthode pour le diagnostic de cancers. |
Publications (1)
Publication Number | Publication Date |
---|---|
WO1995016792A1 true WO1995016792A1 (fr) | 1995-06-22 |
Family
ID=4262936
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
PCT/IB1994/000414 WO1995016792A1 (fr) | 1993-12-16 | 1994-12-13 | Methode pour le diagnostic de cancers |
Country Status (5)
Country | Link |
---|---|
US (1) | US5952170A (fr) |
AU (1) | AU1075695A (fr) |
CH (1) | CH686982A5 (fr) |
GB (1) | GB2299166B (fr) |
WO (1) | WO1995016792A1 (fr) |
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US5670325A (en) * | 1996-08-14 | 1997-09-23 | Exact Laboratories, Inc. | Method for the detection of clonal populations of transformed cells in a genomically heterogeneous cellular sample |
US5741650A (en) * | 1996-01-30 | 1998-04-21 | Exact Laboratories, Inc. | Methods for detecting colon cancer from stool samples |
DE19736691A1 (de) * | 1997-08-22 | 1999-02-25 | Michael Prof Dr Med Giesing | Verfahren zur Charakterisierung und Identifizierung disseminierter und metastasierter Krebszellen |
EP0929694A1 (fr) * | 1996-03-15 | 1999-07-21 | The Penn State Research Foundation | Detection d'acide nucleique extracellulaire lie a des tumeurs dans le plasma ou le serum sanguin a l'aide d'essais d'amplification d'acide nucleique |
US5928870A (en) * | 1997-06-16 | 1999-07-27 | Exact Laboratories, Inc. | Methods for the detection of loss of heterozygosity |
US5952178A (en) * | 1996-08-14 | 1999-09-14 | Exact Laboratories | Methods for disease diagnosis from stool samples |
US6020137A (en) * | 1996-08-14 | 2000-02-01 | Exact Laboratories, Inc. | Methods for the detection of loss of heterozygosity |
US6100029A (en) * | 1996-08-14 | 2000-08-08 | Exact Laboratories, Inc. | Methods for the detection of chromosomal aberrations |
WO2000066783A2 (fr) * | 1999-05-04 | 2000-11-09 | Ortho-Clinical Diagnostics, Inc. | Capture rapide et efficace d'adn dans un prelevement sans recours a un reactif de lyse cellulaire |
US6146828A (en) * | 1996-08-14 | 2000-11-14 | Exact Laboratories, Inc. | Methods for detecting differences in RNA expression levels and uses therefor |
US6203993B1 (en) | 1996-08-14 | 2001-03-20 | Exact Science Corp. | Methods for the detection of nucleic acids |
WO2001042504A2 (fr) * | 1999-12-07 | 2001-06-14 | The Penn State Research Foundation | Detection d'acide nucleique extracellulaire associe aux tumeurs dans le plasma et le serum sanguins |
US6280947B1 (en) | 1999-08-11 | 2001-08-28 | Exact Sciences Corporation | Methods for detecting nucleotide insertion or deletion using primer extension |
US6291163B1 (en) * | 1996-08-28 | 2001-09-18 | The Johns Hopkins University School Of Medicine | Method for detecting cell proliferative disorders |
US6300077B1 (en) | 1996-08-14 | 2001-10-09 | Exact Sciences Corporation | Methods for the detection of nucleic acids |
US6511805B1 (en) | 1996-03-15 | 2003-01-28 | The Penn State Research Foundation | Methods for detecting papillomavirus DNA in blood plasma and serum |
US7252946B2 (en) | 2004-01-27 | 2007-08-07 | Zoragen, Inc. | Nucleic acid detection |
US7262006B1 (en) | 2000-05-01 | 2007-08-28 | Ortho-Clinical Diagnostics, Inc. | Rapid and efficient capture of DNA from sample without using cell lysing reagent |
WO2009021149A1 (fr) * | 2007-08-07 | 2009-02-12 | The Penn State Research Foundation | Détection d'acides nucléiques extracellulaires associés à une tumeur dans le plasma ou le sérum sanguin |
US9109256B2 (en) | 2004-10-27 | 2015-08-18 | Esoterix Genetic Laboratories, Llc | Method for monitoring disease progression or recurrence |
US9777314B2 (en) | 2005-04-21 | 2017-10-03 | Esoterix Genetic Laboratories, Llc | Analysis of heterogeneous nucleic acid samples |
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---|---|---|---|---|
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US6844152B1 (en) * | 2000-09-15 | 2005-01-18 | Promega Corporation | Detection of microsatellite instability and its use in diagnosis of tumors |
US20020058265A1 (en) * | 2000-09-15 | 2002-05-16 | Promega Corporation | Detection of microsatellite instability and its use in diagnosis of tumors |
US6924358B2 (en) | 2001-03-05 | 2005-08-02 | Agensys, Inc. | 121P1F1: a tissue specific protein highly expressed in various cancers |
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US20030191073A1 (en) | 2001-11-07 | 2003-10-09 | Challita-Eid Pia M. | Nucleic acid and corresponding protein entitled 161P2F10B useful in treatment and detection of cancer |
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US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
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US20050266405A1 (en) * | 2002-03-08 | 2005-12-01 | Kopreski Michael S | Analysis of apoptotic bodies in bodily fluids |
US7727720B2 (en) | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
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US20060183128A1 (en) * | 2003-08-12 | 2006-08-17 | Epigenomics Ag | Methods and compositions for differentiating tissues for cell types using epigenetic markers |
EP2583981A3 (fr) | 2004-05-28 | 2013-07-31 | Agensys, Inc. | Anticorps et molécules correspondantes se liant aux protéines PSCA |
CA2584784A1 (fr) * | 2004-10-22 | 2006-05-04 | Promega Corporation | Methodes et ensembles pour detecter des mutations |
RU2413735C2 (ru) | 2005-03-31 | 2011-03-10 | Эдженсис, Инк. | Антитела и родственные молекулы, связывающиеся с белками 161p2f10b |
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US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
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US20090023138A1 (en) * | 2007-07-17 | 2009-01-22 | Zila Biotechnology, Inc. | Oral cancer markers and their detection |
US8583380B2 (en) | 2008-09-05 | 2013-11-12 | Aueon, Inc. | Methods for stratifying and annotating cancer drug treatment options |
WO2010048691A1 (fr) * | 2008-10-28 | 2010-05-06 | British Columbia Cancer Agency Branch | Test de génotypage multiplex permettant la détection de mutations dans le gène k-ras |
US20100317534A1 (en) * | 2009-06-12 | 2010-12-16 | Board Of Regents, The University Of Texas System | Global germ line and tumor microsatellite patterns are cancer biomarkers |
US8825412B2 (en) | 2010-05-18 | 2014-09-02 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US20110177512A1 (en) * | 2010-01-19 | 2011-07-21 | Predictive Biosciences, Inc. | Method for assuring amplification of an abnormal nucleic acid in a sample |
US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
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US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
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US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
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US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
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US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
EP2619329B1 (fr) | 2010-09-24 | 2019-05-22 | The Board of Trustees of The Leland Stanford Junior University | Capture directe, amplification et séquençage d'adn cible à l'aide d'amorces immobilisées |
KR101891847B1 (ko) | 2010-11-30 | 2018-08-24 | 더 차이니즈 유니버시티 오브 홍콩 | 암과 연관된 유전적 또는 분자적 이상들의 검출 |
US10131947B2 (en) | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
US8756020B2 (en) | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
BR112013020220B1 (pt) | 2011-02-09 | 2020-03-17 | Natera, Inc. | Método para determinar o estado de ploidia de um cromossomo em um feto em gestação |
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Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4871838A (en) * | 1985-07-23 | 1989-10-03 | The Board Of Rijks Universiteit Leiden | Probes and methods for detecting activated ras oncogenes |
WO1993022456A1 (fr) * | 1992-04-27 | 1993-11-11 | Trustees Of Dartmouth College | Detection de sequences geniques dans des liquides biologiques |
Family Cites Families (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
ATE164629T1 (de) * | 1990-01-04 | 1998-04-15 | Univ Johns Hopkins | In menschlichen kolorektalkarzinomen fehlendes gen |
CA2156920A1 (fr) * | 1993-02-24 | 1994-09-01 | Stephen N. Thibodeau | Instabilite genomique specifique a la tumeur, indicateur de pronostique |
US7326778B1 (en) * | 1993-05-05 | 2008-02-05 | The John Hopkins University | Mutator gene and hereditary non-polyposis colorectal cancer |
US5702886A (en) * | 1994-10-05 | 1997-12-30 | The Johns Hopkins University | Chromosome I8Q loss and prognosis in colorectal cancer |
-
1993
- 1993-12-16 CH CH03761/93A patent/CH686982A5/fr not_active IP Right Cessation
-
1994
- 1994-12-13 GB GB9612528A patent/GB2299166B/en not_active Expired - Lifetime
- 1994-12-13 AU AU10756/95A patent/AU1075695A/en not_active Abandoned
- 1994-12-13 US US08/663,230 patent/US5952170A/en not_active Expired - Lifetime
- 1994-12-13 WO PCT/IB1994/000414 patent/WO1995016792A1/fr active Application Filing
Patent Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4871838A (en) * | 1985-07-23 | 1989-10-03 | The Board Of Rijks Universiteit Leiden | Probes and methods for detecting activated ras oncogenes |
WO1993022456A1 (fr) * | 1992-04-27 | 1993-11-11 | Trustees Of Dartmouth College | Detection de sequences geniques dans des liquides biologiques |
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Also Published As
Publication number | Publication date |
---|---|
GB2299166B (en) | 1998-04-15 |
CH686982A5 (fr) | 1996-08-15 |
AU1075695A (en) | 1995-07-03 |
GB2299166A (en) | 1996-09-25 |
US5952170A (en) | 1999-09-14 |
GB9612528D0 (en) | 1996-08-14 |
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