CA2770716A1 - Methods, primers, probes and kits useful for the detection of braf mutations - Google Patents
Methods, primers, probes and kits useful for the detection of braf mutations Download PDFInfo
- Publication number
- CA2770716A1 CA2770716A1 CA2770716A CA2770716A CA2770716A1 CA 2770716 A1 CA2770716 A1 CA 2770716A1 CA 2770716 A CA2770716 A CA 2770716A CA 2770716 A CA2770716 A CA 2770716A CA 2770716 A1 CA2770716 A1 CA 2770716A1
- Authority
- CA
- Canada
- Prior art keywords
- braf
- seq
- sample
- sequence
- primer
- Prior art date
- Legal status (The legal status 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 status listed.)
- Abandoned
Links
- 239000000523 sample Substances 0.000 title claims abstract description 94
- 230000035772 mutation Effects 0.000 title claims abstract description 84
- 238000000034 method Methods 0.000 title claims abstract description 55
- 238000001514 detection method Methods 0.000 title claims description 18
- 101000984753 Homo sapiens Serine/threonine-protein kinase B-raf Proteins 0.000 claims abstract description 110
- 102100027103 Serine/threonine-protein kinase B-raf Human genes 0.000 claims abstract description 109
- 102200055464 rs113488022 Human genes 0.000 claims abstract description 38
- 102220197820 rs121913227 Human genes 0.000 claims abstract description 36
- 102200055469 rs121913377 Human genes 0.000 claims abstract description 27
- 102220014069 rs121913378 Human genes 0.000 claims abstract description 15
- 230000003321 amplification Effects 0.000 claims description 66
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 66
- 206010028980 Neoplasm Diseases 0.000 claims description 53
- 238000006243 chemical reaction Methods 0.000 claims description 36
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 31
- 150000007523 nucleic acids Chemical class 0.000 claims description 19
- 238000000137 annealing Methods 0.000 claims description 15
- 230000014509 gene expression Effects 0.000 claims description 12
- 102000039446 nucleic acids Human genes 0.000 claims description 12
- 108020004707 nucleic acids Proteins 0.000 claims description 12
- 102220198068 rs113488022 Human genes 0.000 claims description 12
- 108090000623 proteins and genes Proteins 0.000 claims description 9
- 108091034117 Oligonucleotide Proteins 0.000 claims description 6
- 206010027480 Metastatic malignant melanoma Diseases 0.000 claims description 5
- 208000021039 metastatic melanoma Diseases 0.000 claims description 5
- 239000012188 paraffin wax Substances 0.000 claims description 3
- 239000008280 blood Substances 0.000 claims description 2
- 210000004369 blood Anatomy 0.000 claims description 2
- 239000013615 primer Substances 0.000 claims 26
- 108091032973 (ribonucleotides)n+m Proteins 0.000 claims 7
- 108020004999 messenger RNA Proteins 0.000 claims 6
- 239000003155 DNA primer Substances 0.000 claims 4
- 101150048834 braF gene Proteins 0.000 claims 3
- WSFSSNUMVMOOMR-UHFFFAOYSA-N Formaldehyde Chemical group O=C WSFSSNUMVMOOMR-UHFFFAOYSA-N 0.000 claims 2
- 108020004711 Nucleic Acid Probes Proteins 0.000 claims 2
- 230000000973 chemotherapeutic effect Effects 0.000 claims 2
- 239000002853 nucleic acid probe Substances 0.000 claims 2
- 210000001519 tissue Anatomy 0.000 description 19
- 210000004027 cell Anatomy 0.000 description 17
- 230000004083 survival effect Effects 0.000 description 14
- 201000001441 melanoma Diseases 0.000 description 13
- 239000012634 fragment Substances 0.000 description 12
- 206010009944 Colon cancer Diseases 0.000 description 11
- 108020004414 DNA Proteins 0.000 description 9
- 102000053602 DNA Human genes 0.000 description 9
- 201000011510 cancer Diseases 0.000 description 9
- 208000029742 colonic neoplasm Diseases 0.000 description 9
- 238000012360 testing method Methods 0.000 description 9
- 230000008859 change Effects 0.000 description 7
- 229920002477 rna polymer Polymers 0.000 description 7
- 238000011269 treatment regimen Methods 0.000 description 7
- 201000010099 disease Diseases 0.000 description 6
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 6
- 208000001333 Colorectal Neoplasms Diseases 0.000 description 5
- 102000004169 proteins and genes Human genes 0.000 description 5
- 238000011282 treatment Methods 0.000 description 5
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 4
- 206010051922 Hereditary non-polyposis colorectal cancer syndrome Diseases 0.000 description 4
- 102000004232 Mitogen-Activated Protein Kinase Kinases Human genes 0.000 description 4
- 238000002123 RNA extraction Methods 0.000 description 4
- 238000004458 analytical method Methods 0.000 description 4
- 238000011948 assay development Methods 0.000 description 4
- 238000011161 development Methods 0.000 description 4
- 238000003752 polymerase chain reaction Methods 0.000 description 4
- 238000003556 assay Methods 0.000 description 3
- 230000015556 catabolic process Effects 0.000 description 3
- 230000009089 cytolysis Effects 0.000 description 3
- 238000000605 extraction Methods 0.000 description 3
- 210000001035 gastrointestinal tract Anatomy 0.000 description 3
- 230000002068 genetic effect Effects 0.000 description 3
- 230000003211 malignant effect Effects 0.000 description 3
- 239000003550 marker Substances 0.000 description 3
- 238000002360 preparation method Methods 0.000 description 3
- HEDRZPFGACZZDS-UHFFFAOYSA-N Chloroform Chemical compound ClC(Cl)Cl HEDRZPFGACZZDS-UHFFFAOYSA-N 0.000 description 2
- 108091026890 Coding region Proteins 0.000 description 2
- 108091029523 CpG island Proteins 0.000 description 2
- 238000007399 DNA isolation Methods 0.000 description 2
- 102100034157 DNA mismatch repair protein Msh2 Human genes 0.000 description 2
- 101001134036 Homo sapiens DNA mismatch repair protein Msh2 Proteins 0.000 description 2
- 230000005723 MEK inhibition Effects 0.000 description 2
- 229910015837 MSH2 Inorganic materials 0.000 description 2
- 206010027476 Metastases Diseases 0.000 description 2
- 208000032818 Microsatellite Instability Diseases 0.000 description 2
- 102100024193 Mitogen-activated protein kinase 1 Human genes 0.000 description 2
- 101100381978 Mus musculus Braf gene Proteins 0.000 description 2
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 2
- 108700020796 Oncogene Proteins 0.000 description 2
- ISWSIDIOOBJBQZ-UHFFFAOYSA-N Phenol Chemical compound OC1=CC=CC=C1 ISWSIDIOOBJBQZ-UHFFFAOYSA-N 0.000 description 2
- 238000010240 RT-PCR analysis Methods 0.000 description 2
- IQFYYKKMVGJFEH-XLPZGREQSA-N Thymidine Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 IQFYYKKMVGJFEH-XLPZGREQSA-N 0.000 description 2
- OIRDTQYFTABQOQ-KQYNXXCUSA-N adenosine Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O OIRDTQYFTABQOQ-KQYNXXCUSA-N 0.000 description 2
- 210000004100 adrenal gland Anatomy 0.000 description 2
- 230000004075 alteration Effects 0.000 description 2
- 210000003192 autonomic ganglia Anatomy 0.000 description 2
- 210000003445 biliary tract Anatomy 0.000 description 2
- 238000001574 biopsy Methods 0.000 description 2
- 210000001124 body fluid Anatomy 0.000 description 2
- 239000010839 body fluid Substances 0.000 description 2
- 210000000481 breast Anatomy 0.000 description 2
- 231100000504 carcinogenesis Toxicity 0.000 description 2
- 210000003169 central nervous system Anatomy 0.000 description 2
- 230000006378 damage Effects 0.000 description 2
- 238000003745 diagnosis Methods 0.000 description 2
- 230000000694 effects Effects 0.000 description 2
- 210000003238 esophagus Anatomy 0.000 description 2
- 210000001508 eye Anatomy 0.000 description 2
- 210000004602 germ cell Anatomy 0.000 description 2
- 230000003394 haemopoietic effect Effects 0.000 description 2
- 239000003112 inhibitor Substances 0.000 description 2
- 210000002429 large intestine Anatomy 0.000 description 2
- 238000007834 ligase chain reaction Methods 0.000 description 2
- 210000004185 liver Anatomy 0.000 description 2
- 210000004072 lung Anatomy 0.000 description 2
- 210000003563 lymphoid tissue Anatomy 0.000 description 2
- 206010061289 metastatic neoplasm Diseases 0.000 description 2
- 239000000203 mixture Substances 0.000 description 2
- 210000000653 nervous system Anatomy 0.000 description 2
- 208000002154 non-small cell lung carcinoma Diseases 0.000 description 2
- 239000002751 oligonucleotide probe Substances 0.000 description 2
- 231100000590 oncogenic Toxicity 0.000 description 2
- 230000002246 oncogenic effect Effects 0.000 description 2
- 210000001672 ovary Anatomy 0.000 description 2
- 210000000496 pancreas Anatomy 0.000 description 2
- 230000000144 pharmacologic effect Effects 0.000 description 2
- 230000001817 pituitary effect Effects 0.000 description 2
- 102000054765 polymorphisms of proteins Human genes 0.000 description 2
- 238000001556 precipitation Methods 0.000 description 2
- 210000002307 prostate Anatomy 0.000 description 2
- 239000012266 salt solution Substances 0.000 description 2
- 230000019491 signal transduction Effects 0.000 description 2
- 210000003491 skin Anatomy 0.000 description 2
- 210000000813 small intestine Anatomy 0.000 description 2
- 210000004872 soft tissue Anatomy 0.000 description 2
- 210000002784 stomach Anatomy 0.000 description 2
- 210000001685 thyroid gland Anatomy 0.000 description 2
- 208000029729 tumor suppressor gene on chromosome 11 Diseases 0.000 description 2
- KKVYYGGCHJGEFJ-UHFFFAOYSA-N 1-n-(4-chlorophenyl)-6-methyl-5-n-[3-(7h-purin-6-yl)pyridin-2-yl]isoquinoline-1,5-diamine Chemical compound N=1C=CC2=C(NC=3C(=CC=CN=3)C=3C=4N=CNC=4N=CN=3)C(C)=CC=C2C=1NC1=CC=C(Cl)C=C1 KKVYYGGCHJGEFJ-UHFFFAOYSA-N 0.000 description 1
- DWRXFEITVBNRMK-UHFFFAOYSA-N Beta-D-1-Arabinofuranosylthymine Natural products O=C1NC(=O)C(C)=CN1C1C(O)C(O)C(CO)O1 DWRXFEITVBNRMK-UHFFFAOYSA-N 0.000 description 1
- 206010006187 Breast cancer Diseases 0.000 description 1
- 208000026310 Breast neoplasm Diseases 0.000 description 1
- 239000002126 C01EB10 - Adenosine Substances 0.000 description 1
- 208000005623 Carcinogenesis Diseases 0.000 description 1
- 201000009030 Carcinoma Diseases 0.000 description 1
- 102000016736 Cyclin Human genes 0.000 description 1
- 108050006400 Cyclin Proteins 0.000 description 1
- 102100021147 DNA mismatch repair protein Msh6 Human genes 0.000 description 1
- 206010061818 Disease progression Diseases 0.000 description 1
- 206010061819 Disease recurrence Diseases 0.000 description 1
- 108010067770 Endopeptidase K Proteins 0.000 description 1
- 102100030013 Endoribonuclease Human genes 0.000 description 1
- 101710199605 Endoribonuclease Proteins 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 102000003974 Fibroblast growth factor 2 Human genes 0.000 description 1
- 108090000379 Fibroblast growth factor 2 Proteins 0.000 description 1
- 230000037057 G1 phase arrest Effects 0.000 description 1
- 108091092584 GDNA Proteins 0.000 description 1
- 101000968658 Homo sapiens DNA mismatch repair protein Msh6 Proteins 0.000 description 1
- KZSNJWFQEVHDMF-BYPYZUCNSA-N L-valine Chemical compound CC(C)[C@H](N)C(O)=O KZSNJWFQEVHDMF-BYPYZUCNSA-N 0.000 description 1
- 206010058467 Lung neoplasm malignant Diseases 0.000 description 1
- 241000124008 Mammalia Species 0.000 description 1
- 108060004795 Methyltransferase Proteins 0.000 description 1
- 238000012408 PCR amplification Methods 0.000 description 1
- 102000035195 Peptidases Human genes 0.000 description 1
- 108091005804 Peptidases Proteins 0.000 description 1
- 239000004365 Protease Substances 0.000 description 1
- BFDMCHRDSYTOLE-UHFFFAOYSA-N SC#N.NC(N)=N.ClC(Cl)Cl.OC1=CC=CC=C1 Chemical compound SC#N.NC(N)=N.ClC(Cl)Cl.OC1=CC=CC=C1 BFDMCHRDSYTOLE-UHFFFAOYSA-N 0.000 description 1
- 101710113029 Serine/threonine-protein kinase Proteins 0.000 description 1
- 208000024770 Thyroid neoplasm Diseases 0.000 description 1
- 208000025865 Ulcer Diseases 0.000 description 1
- KZSNJWFQEVHDMF-UHFFFAOYSA-N Valine Natural products CC(C)C(N)C(O)=O KZSNJWFQEVHDMF-UHFFFAOYSA-N 0.000 description 1
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 1
- 230000004913 activation Effects 0.000 description 1
- 208000009956 adenocarcinoma Diseases 0.000 description 1
- 229960005305 adenosine Drugs 0.000 description 1
- 238000011256 aggressive treatment Methods 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- IQFYYKKMVGJFEH-UHFFFAOYSA-N beta-L-thymidine Natural products O=C1NC(=O)C(C)=CN1C1OC(CO)C(O)C1 IQFYYKKMVGJFEH-UHFFFAOYSA-N 0.000 description 1
- 239000000090 biomarker Substances 0.000 description 1
- 230000000903 blocking effect Effects 0.000 description 1
- 239000000872 buffer Substances 0.000 description 1
- 230000036952 cancer formation Effects 0.000 description 1
- 238000004113 cell culture Methods 0.000 description 1
- 230000030833 cell death Effects 0.000 description 1
- 230000010261 cell growth Effects 0.000 description 1
- 230000004663 cell proliferation Effects 0.000 description 1
- 230000001413 cellular effect Effects 0.000 description 1
- 210000001072 colon Anatomy 0.000 description 1
- 238000004440 column chromatography Methods 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 230000000875 corresponding effect Effects 0.000 description 1
- 238000006731 degradation reaction Methods 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 238000013461 design Methods 0.000 description 1
- 239000003599 detergent Substances 0.000 description 1
- 238000002405 diagnostic procedure Methods 0.000 description 1
- 239000012470 diluted sample Substances 0.000 description 1
- 230000009266 disease activity Effects 0.000 description 1
- 230000005750 disease progression Effects 0.000 description 1
- 230000003828 downregulation Effects 0.000 description 1
- 230000007717 exclusion Effects 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 210000002950 fibroblast Anatomy 0.000 description 1
- 230000018661 fibroblast growth factor production Effects 0.000 description 1
- ZDXPYRJPNDTMRX-UHFFFAOYSA-N glutamine Natural products OC(=O)C(N)CCC(N)=O ZDXPYRJPNDTMRX-UHFFFAOYSA-N 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
- 230000006872 improvement Effects 0.000 description 1
- 230000006698 induction Effects 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 238000005342 ion exchange Methods 0.000 description 1
- 238000002955 isolation Methods 0.000 description 1
- 238000011901 isothermal amplification Methods 0.000 description 1
- 238000002372 labelling Methods 0.000 description 1
- 201000005202 lung cancer Diseases 0.000 description 1
- 208000020816 lung neoplasm Diseases 0.000 description 1
- 210000002751 lymph Anatomy 0.000 description 1
- 210000001165 lymph node Anatomy 0.000 description 1
- 208000019420 lymphoid neoplasm Diseases 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 210000002752 melanocyte Anatomy 0.000 description 1
- 239000012528 membrane Substances 0.000 description 1
- 230000001394 metastastic effect Effects 0.000 description 1
- 230000011987 methylation Effects 0.000 description 1
- 238000007069 methylation reaction Methods 0.000 description 1
- 230000000116 mitigating effect Effects 0.000 description 1
- 238000010369 molecular cloning Methods 0.000 description 1
- 239000003147 molecular marker Substances 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 230000010309 neoplastic transformation Effects 0.000 description 1
- 230000005853 oncogenic activation Effects 0.000 description 1
- 230000005298 paramagnetic effect Effects 0.000 description 1
- 230000007170 pathology Effects 0.000 description 1
- 239000013610 patient sample Substances 0.000 description 1
- 238000002205 phenol-chloroform extraction Methods 0.000 description 1
- 210000002381 plasma Anatomy 0.000 description 1
- 230000008569 process Effects 0.000 description 1
- 238000004393 prognosis Methods 0.000 description 1
- 230000000750 progressive effect Effects 0.000 description 1
- 230000002285 radioactive effect Effects 0.000 description 1
- 230000001105 regulatory effect Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 239000011347 resin Substances 0.000 description 1
- 229920005989 resin Polymers 0.000 description 1
- 230000004044 response Effects 0.000 description 1
- 230000000452 restraining effect Effects 0.000 description 1
- 150000003839 salts Chemical class 0.000 description 1
- 238000007423 screening assay Methods 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 150000003384 small molecules Chemical class 0.000 description 1
- 239000007787 solid Substances 0.000 description 1
- 230000001225 therapeutic effect Effects 0.000 description 1
- 229940104230 thymidine Drugs 0.000 description 1
- 201000002510 thyroid cancer Diseases 0.000 description 1
- 230000009466 transformation Effects 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 230000004614 tumor growth Effects 0.000 description 1
- 230000036269 ulceration Effects 0.000 description 1
- 238000007473 univariate analysis Methods 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
- 239000004474 valine Substances 0.000 description 1
- 238000005406 washing Methods 0.000 description 1
Classifications
-
- 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
- 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
-
- 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
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- 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
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Immunology (AREA)
- Analytical Chemistry (AREA)
- Genetics & Genomics (AREA)
- Pathology (AREA)
- Physics & Mathematics (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Hospice & Palliative Care (AREA)
- Oncology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Paints Or Removers (AREA)
Applications Claiming Priority (7)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US23305409P | 2009-08-11 | 2009-08-11 | |
| US61/233,054 | 2009-08-11 | ||
| US23707809P | 2009-08-26 | 2009-08-26 | |
| US61/237,078 | 2009-08-26 | ||
| US30179010P | 2010-02-05 | 2010-02-05 | |
| US61/301,790 | 2010-02-05 | ||
| PCT/US2010/044997 WO2011019704A2 (en) | 2009-08-11 | 2010-08-10 | Methods, primers, probes and kits useful for the detection of braf mutations |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2770716A1 true CA2770716A1 (en) | 2011-02-17 |
Family
ID=43586772
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2770716A Abandoned CA2770716A1 (en) | 2009-08-11 | 2010-08-10 | Methods, primers, probes and kits useful for the detection of braf mutations |
Country Status (12)
| Country | Link |
|---|---|
| US (1) | US20140248614A1 (enExample) |
| EP (1) | EP2464751B1 (enExample) |
| JP (1) | JP2013501523A (enExample) |
| KR (1) | KR20120099630A (enExample) |
| CN (1) | CN102575295B (enExample) |
| AR (1) | AR077844A1 (enExample) |
| AU (1) | AU2010282632A1 (enExample) |
| CA (1) | CA2770716A1 (enExample) |
| IL (1) | IL218021A0 (enExample) |
| NZ (1) | NZ598166A (enExample) |
| TW (1) | TW201111517A (enExample) |
| WO (1) | WO2011019704A2 (enExample) |
Families Citing this family (18)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP6153758B2 (ja) * | 2012-04-20 | 2017-06-28 | アークレイ株式会社 | 多型検出用プローブ、多型検出方法、薬効判定方法及び多型検出用キット |
| US10077474B2 (en) | 2012-05-29 | 2018-09-18 | Abbott Molecular, Inc. | Method of designing primers, method of detecting single nucleotide polymorphisms (SNPs), method of distinguishing SNPs, and related primers, detectable oligonucleotides, and kits |
| CN102816851A (zh) * | 2012-08-29 | 2012-12-12 | 苏州旷远生物分子技术有限公司 | 用于检测braf基因v600e突变的引物、探针、试剂盒及方法 |
| CN102876784B (zh) * | 2012-09-13 | 2014-11-19 | 周宏灏 | 焦磷酸测序法检测B-raf基因多态性的试剂盒及方法 |
| EP2711432A1 (en) * | 2012-09-21 | 2014-03-26 | Genomica S.A.U. | Method for detection of BRAF and PI3K mutations |
| EP3473250B1 (en) | 2012-12-27 | 2022-08-17 | Quest Diagnostics Investments Incorporated | Ddr2 mutations as targetable features of melanoma or basal cell carcinoma |
| CN103103269B (zh) * | 2013-01-18 | 2015-07-15 | 陕西佰美基因股份有限公司 | 一种基于探针熔解技术准确检测braf基因突变的方法 |
| JP2016512041A (ja) * | 2013-03-15 | 2016-04-25 | アボツト・モレキユラー・インコーポレイテツド | 多重対立遺伝子の検出 |
| KR101378920B1 (ko) * | 2013-04-18 | 2014-03-27 | 주식회사 현일바이오 | Ｂｒａｆ 돌연변이의 선택적 검출 방법 및 이를 이용한 키트 |
| US20160108479A1 (en) * | 2013-08-14 | 2016-04-21 | Qiagen Mansfield, Inc. | Compositions and methods for multiplex analysis of nras and braf nucleic acids |
| CN104017887A (zh) * | 2014-06-18 | 2014-09-03 | 广州好芝生物科技有限公司 | 人类braf基因突变检测引物对和探针及其试剂盒 |
| CA2954689A1 (en) * | 2014-07-11 | 2016-01-14 | Expression Pathology, Inc. | Srm/mrm assay for the serine/threonine-protein kinase b-raf (braf) |
| CN105400900A (zh) * | 2015-12-29 | 2016-03-16 | 杭州迪安生物技术有限公司 | 焦磷酸测序技术检测braf基因v600e微量突变试剂盒及其应用 |
| CN105861691A (zh) * | 2016-05-06 | 2016-08-17 | 北京晋祺生物科技有限公司 | 一种braf基因突变检测的引物组合物、试剂盒及方法 |
| US12364776B2 (en) | 2017-06-29 | 2025-07-22 | Korea Advanced Institute Of Science And Technology | Ganglioglioma-induced animal model and a method for diagnosing and treating ganglioglioma and related diseases |
| KR20190038464A (ko) * | 2017-09-29 | 2019-04-08 | (재)록원바이오융합연구재단 | Ras/braf 돌연변이 검출용 조성물 및 이를 포함하는 키트 |
| CN109161594A (zh) * | 2018-08-17 | 2019-01-08 | 中山大学达安基因股份有限公司 | 一种检测braf基因突变的方法及其试剂盒 |
| WO2022119423A1 (ko) * | 2020-12-04 | 2022-06-09 | 주식회사 제노픽스 | 폐암 유전자 돌연변이 초고감도 선택적 증폭 방법 및 이를 위한 조성물 |
Family Cites Families (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2004337120A (ja) * | 2003-05-19 | 2004-12-02 | Chang Gung Univ | 膀胱癌再発検査方法 |
| US7745125B2 (en) * | 2004-06-28 | 2010-06-29 | Roche Molecular Systems, Inc. | 2′-terminator related pyrophosphorolysis activated polymerization |
| CN101487051B (zh) * | 2009-02-24 | 2011-07-20 | 广州益善生物技术有限公司 | Braf基因突变的检测探针、液相芯片及其检测方法 |
-
2010
- 2010-08-10 NZ NZ598166A patent/NZ598166A/en not_active IP Right Cessation
- 2010-08-10 CN CN201080045765.7A patent/CN102575295B/zh not_active Expired - Fee Related
- 2010-08-10 JP JP2012524782A patent/JP2013501523A/ja active Pending
- 2010-08-10 KR KR1020127004699A patent/KR20120099630A/ko not_active Ceased
- 2010-08-10 CA CA2770716A patent/CA2770716A1/en not_active Abandoned
- 2010-08-10 WO PCT/US2010/044997 patent/WO2011019704A2/en not_active Ceased
- 2010-08-10 EP EP10808619.0A patent/EP2464751B1/en not_active Not-in-force
- 2010-08-10 AU AU2010282632A patent/AU2010282632A1/en not_active Abandoned
- 2010-08-11 TW TW099126740A patent/TW201111517A/zh unknown
- 2010-08-11 AR ARP100102935A patent/AR077844A1/es unknown
-
2012
- 2012-02-09 IL IL218021A patent/IL218021A0/en unknown
-
2014
- 2014-02-27 US US14/192,414 patent/US20140248614A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| WO2011019704A3 (en) | 2011-07-07 |
| CN102575295A (zh) | 2012-07-11 |
| EP2464751A4 (en) | 2013-07-03 |
| KR20120099630A (ko) | 2012-09-11 |
| AU2010282632A1 (en) | 2012-03-08 |
| IL218021A0 (en) | 2012-04-30 |
| AR077844A1 (es) | 2011-09-28 |
| NZ598166A (en) | 2014-03-28 |
| TW201111517A (en) | 2011-04-01 |
| EP2464751A2 (en) | 2012-06-20 |
| EP2464751B1 (en) | 2017-05-24 |
| CN102575295B (zh) | 2016-02-17 |
| JP2013501523A (ja) | 2013-01-17 |
| WO2011019704A2 (en) | 2011-02-17 |
| US20140248614A1 (en) | 2014-09-04 |
| HK1172931A1 (zh) | 2013-05-03 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| EP2464751B1 (en) | Methods, primers, probes and kits useful for the detection of braf mutations | |
| US8728763B2 (en) | Methods, primers, probes and kits useful for the detection of BRAF mutations | |
| US9982304B2 (en) | ARID1A and PPP2R1A mutations in cancer | |
| BRPI0709396A2 (pt) | propagação de células primárias | |
| JP2010528585A (ja) | 癌の診断および治療におけるｂ−ｒａｆｄｎａ変異の有用性 | |
| US20090192045A1 (en) | Molecular staging of stage ii and iii colon cancer and prognosis | |
| CN107949642A (zh) | 用于筛选实体瘤的组合物和方法 | |
| US10774389B2 (en) | Alternative splice variant patterns of human telomerase reverse transcriptase (hTERT) in thyroid tumors to distinguish benign from malignant | |
| Rogers et al. | Differentiating pancreatic lesions by microarray and QPCR analysis of pancreatic juice RNAs | |
| WO2012152811A1 (en) | Molecular markers in prostate cancer | |
| US20220162710A1 (en) | Composition for diagnosis or prognosis prediction of glioma, and method for providing information related thereto | |
| US9534256B2 (en) | Methods and compositions for correlating genetic markers with risk of aggressive prostate cancer | |
| Hunt | Understanding the genotype of follicular thyroid tumors | |
| US20210215698A1 (en) | Urinary DNA Detection For Urothelial Cancer | |
| US11542559B2 (en) | Methylation-based biomarkers in breast cancer screening, diagnosis, or prognosis | |
| JP2012524537A (ja) | 肉腫の予後分子署名およびその使用 | |
| KR101174369B1 (ko) | 유방암 진단용 바이오마커 및 유방암 진단제 | |
| Bennani et al. | Mutation analysis of BRAF exon 15 and KRAS codons 12 and 13 in Moroccan patients with colorectal cancer | |
| KR20240095538A (ko) | 미소위성체 마커 | |
| EP2505665A1 (en) | Cancer markers | |
| EP2978861A2 (en) | Unbiased dna methylation markers define an extensive field defect in histologically normal prostate tissues associated with prostate cancer: new biomarkers for men with prostate cancer | |
| Luévano-González et al. | Analysis of DNA mismatch repair proteins expression and BRAF V600E mutation in a subset of early-and late-onset colorectal carcinoma patients in Mexico | |
| HK1172931B (en) | Methods, primers, probes and kits useful for the detection of braf mutations | |
| EP2334809B1 (en) | Molecular markers in prostate cancer | |
| US20050164229A1 (en) | Methods for in vitro detection of cancers by highlighting allelic imbalances in insertion-deletion markers |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20150810 |
|
| FZDE | Discontinued |
Effective date: 20180413 |