JP2016510982A5 - - Google Patents
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- JP2016510982A5 JP2016510982A5 JP2015562104A JP2015562104A JP2016510982A5 JP 2016510982 A5 JP2016510982 A5 JP 2016510982A5 JP 2015562104 A JP2015562104 A JP 2015562104A JP 2015562104 A JP2015562104 A JP 2015562104A JP 2016510982 A5 JP2016510982 A5 JP 2016510982A5
- Authority
- JP
- Japan
- Prior art keywords
- oligonucleotide
- seq
- mutation
- nucleotide
- allele
- 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.)
- Granted
Links
- 108091034117 Oligonucleotide Proteins 0.000 claims description 78
- 125000003729 nucleotide group Chemical group 0.000 claims description 53
- 239000002773 nucleotide Substances 0.000 claims description 50
- 230000035772 mutation Effects 0.000 claims description 43
- 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 claims description 20
- 238000000034 method Methods 0.000 claims description 19
- 102200085790 rs121913281 Human genes 0.000 claims description 19
- 239000000523 sample Substances 0.000 claims description 19
- 108700028369 Alleles Proteins 0.000 claims description 18
- 102200085639 rs104886003 Human genes 0.000 claims description 13
- 102200085641 rs121913273 Human genes 0.000 claims description 13
- 102200085635 rs121913274 Human genes 0.000 claims description 13
- 102200085637 rs121913274 Human genes 0.000 claims description 13
- 102200085788 rs121913279 Human genes 0.000 claims description 13
- 102200085789 rs121913279 Human genes 0.000 claims description 13
- 102200085787 rs121913283 Human genes 0.000 claims description 13
- 102200085791 rs121913286 Human genes 0.000 claims description 13
- 102200085792 rs121913286 Human genes 0.000 claims description 13
- 102220197790 rs397517201 Human genes 0.000 claims description 13
- 102220006545 c.1035C>A Human genes 0.000 claims description 12
- 102220197894 rs121913277 Human genes 0.000 claims description 12
- 239000011541 reaction mixture Substances 0.000 claims description 10
- 101150063858 Pik3ca gene Proteins 0.000 claims description 9
- 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 group 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 claims description 7
- 238000012986 modification Methods 0.000 claims description 3
- 230000004048 modification Effects 0.000 claims description 3
- 239000013610 patient sample Substances 0.000 claims description 3
- 101100190564 Homo sapiens PIK3CA gene Proteins 0.000 claims description 2
- 206010028980 Neoplasm Diseases 0.000 claims description 2
- 201000011510 cancer Diseases 0.000 claims description 2
- 102000039446 nucleic acids Human genes 0.000 description 10
- 108020004707 nucleic acids Proteins 0.000 description 10
- 150000007523 nucleic acids Chemical class 0.000 description 10
- 238000001514 detection method Methods 0.000 description 9
- 108090000623 proteins and genes Proteins 0.000 description 9
- 239000003153 chemical reaction reagent Substances 0.000 description 6
- 230000003321 amplification Effects 0.000 description 4
- 238000006243 chemical reaction Methods 0.000 description 4
- 238000003199 nucleic acid amplification method Methods 0.000 description 4
- 238000003556 assay Methods 0.000 description 3
- 239000000203 mixture Substances 0.000 description 3
- 239000002777 nucleoside Substances 0.000 description 3
- -1 nucleoside triphosphates Chemical class 0.000 description 3
- 102000004169 proteins and genes Human genes 0.000 description 3
- 238000011282 treatment Methods 0.000 description 3
- 239000001226 triphosphate Substances 0.000 description 3
- 235000011178 triphosphate Nutrition 0.000 description 3
- 108020004705 Codon Proteins 0.000 description 2
- 230000015572 biosynthetic process Effects 0.000 description 2
- 239000000872 buffer Substances 0.000 description 2
- 108700026093 human PI3KCA Proteins 0.000 description 2
- 239000003112 inhibitor Substances 0.000 description 2
- 238000003786 synthesis reaction Methods 0.000 description 2
- 238000007844 allele-specific PCR Methods 0.000 description 1
- 230000000295 complement effect Effects 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 102000052116 epidermal growth factor receptor activity proteins Human genes 0.000 description 1
- 108700015053 epidermal growth factor receptor activity proteins Proteins 0.000 description 1
- 102000053900 human PI3KCA Human genes 0.000 description 1
- 230000001939 inductive effect Effects 0.000 description 1
- 238000002372 labelling Methods 0.000 description 1
- YOHYSYJDKVYCJI-UHFFFAOYSA-N n-[3-[[6-[3-(trifluoromethyl)anilino]pyrimidin-4-yl]amino]phenyl]cyclopropanecarboxamide Chemical compound FC(F)(F)C1=CC=CC(NC=2N=CN=C(NC=3C=C(NC(=O)C4CC4)C=CC=3)C=2)=C1 YOHYSYJDKVYCJI-UHFFFAOYSA-N 0.000 description 1
- 230000037361 pathway Effects 0.000 description 1
- 238000011269 treatment regimen Methods 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 238000011144 upstream manufacturing Methods 0.000 description 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201361780017P | 2013-03-13 | 2013-03-13 | |
| US61/780,017 | 2013-03-13 | ||
| PCT/EP2014/054766 WO2014140061A2 (en) | 2013-03-13 | 2014-03-12 | Methods and compositions for detecting mutations in the human pi3kca (pik3ca) gene |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2016510982A JP2016510982A (ja) | 2016-04-14 |
| JP2016510982A5 true JP2016510982A5 (enExample) | 2018-09-06 |
| JP6453781B2 JP6453781B2 (ja) | 2019-01-16 |
Family
ID=50277211
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2015562104A Active JP6453781B2 (ja) | 2013-03-13 | 2014-03-12 | ヒトpi3kca(pik3ca)遺伝子変異検出のための方法及び組成物 |
Country Status (7)
| Country | Link |
|---|---|
| US (2) | US20140272961A1 (enExample) |
| EP (1) | EP2971075B1 (enExample) |
| JP (1) | JP6453781B2 (enExample) |
| CN (2) | CN105229171A (enExample) |
| CA (1) | CA2899712C (enExample) |
| ES (1) | ES2691306T3 (enExample) |
| WO (1) | WO2014140061A2 (enExample) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB201206486D0 (en) * | 2012-04-12 | 2012-05-30 | Sequessome Technology Holdings Ltd | Vesicular formulations and uses thereof |
| WO2018094569A1 (zh) * | 2016-11-22 | 2018-05-31 | 深圳华大基因研究院 | 多肽及其应用 |
| CN109913481B (zh) * | 2019-04-24 | 2020-04-03 | 无锡市第五人民医院 | PIK3CA基因g.179224821G>A突变及其在乳腺癌辅助诊断中的应用 |
| KR102813811B1 (ko) * | 2020-03-27 | 2025-05-30 | 주식회사 젠큐릭스 | Pik3ca 돌연변이 검출용 조성물 및 이를 포함하는 키트 |
| CN111363827A (zh) * | 2020-04-30 | 2020-07-03 | 北京和合医学诊断技术股份有限公司 | 用于检测pik3ca基因突变的引物组及其应用方法 |
| CN114410790B (zh) * | 2022-01-27 | 2024-04-12 | 湖南大学 | 一种用于检测ctDNA的生物传感检测系统及其检测方法 |
Family Cites Families (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| ES2663248T3 (es) * | 2004-03-02 | 2018-04-11 | The Johns Hopkins University | Mutaciones del gen de PIK3CA en cánceres humanos |
| GB2453173A (en) * | 2007-09-28 | 2009-04-01 | Dxs Ltd | Polynucleotide primers |
| JP5624044B2 (ja) * | 2008-10-20 | 2014-11-12 | エフ.ホフマン−ラ ロシュアーゲーF.Hoffmann−La Roche Aktiengesellschaft | 改善されたアレル−特異的増幅 |
| US20100286143A1 (en) * | 2009-04-24 | 2010-11-11 | Dora Dias-Santagata | Methods and materials for genetic analysis of tumors |
| US9238832B2 (en) * | 2009-12-11 | 2016-01-19 | Roche Molecular Systems, Inc. | Allele-specific amplification of nucleic acids |
| EP3246332B1 (en) * | 2010-01-12 | 2019-07-10 | Siemens Healthcare Diagnostics Inc. | Oligonucleotides and methods for detecting pik3ca mutations |
| CN102234685B (zh) * | 2010-04-23 | 2014-08-27 | 益善生物技术股份有限公司 | 一种pik3ca基因突变检测液相芯片 |
| KR101825121B1 (ko) * | 2010-08-13 | 2018-02-06 | 주식회사 파나진 | Pna 기반의 실시간 pcr 클램핑을 이용한 pik3ca 돌연변이 검출 방법 및 키트 |
| JP6050820B2 (ja) * | 2011-09-23 | 2016-12-21 | エフ.ホフマン−ラ ロシュ アーゲーF. Hoffmann−La Roche Aktiengesellschaft | 改良された対立遺伝子特異的pcrのためのg−クランプの使用 |
-
2014
- 2014-03-12 WO PCT/EP2014/054766 patent/WO2014140061A2/en not_active Ceased
- 2014-03-12 EP EP14709926.1A patent/EP2971075B1/en active Active
- 2014-03-12 CN CN201480013282.7A patent/CN105229171A/zh active Pending
- 2014-03-12 ES ES14709926.1T patent/ES2691306T3/es active Active
- 2014-03-12 CA CA2899712A patent/CA2899712C/en active Active
- 2014-03-12 JP JP2015562104A patent/JP6453781B2/ja active Active
- 2014-03-12 CN CN201810088883.4A patent/CN108130373A/zh active Pending
- 2014-03-12 US US14/205,751 patent/US20140272961A1/en not_active Abandoned
-
2016
- 2016-02-05 US US15/017,179 patent/US20160160297A1/en not_active Abandoned
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