CN102144036B - 用于乳腺癌风险评估的遗传变型 - Google Patents

用于乳腺癌风险评估的遗传变型 Download PDF

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CN102144036B
CN102144036B CN200980134453.0A CN200980134453A CN102144036B CN 102144036 B CN102144036 B CN 102144036B CN 200980134453 A CN200980134453 A CN 200980134453A CN 102144036 B CN102144036 B CN 102144036B
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breast cancer
markers
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allele
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CN102144036A (zh
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S·斯达赛
P·苏勒姆
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Decode Genetics ehf
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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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    • G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
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    • 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
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    • G—PHYSICS
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    • G16C—COMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE
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    • G16C20/60—In silico combinatorial chemistry
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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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    • 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
    • C12Q2600/136—Screening for pharmacological compounds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
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    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
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  • Chemical & Material Sciences (AREA)
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  • Proteomics, Peptides & Aminoacids (AREA)
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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
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CN200980134453.0A 2008-07-07 2009-07-03 用于乳腺癌风险评估的遗传变型 Expired - Fee Related CN102144036B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
IS8746 2008-07-07
IS8746 2008-07-07
PCT/IS2009/000008 WO2010004591A2 (en) 2008-07-07 2009-07-03 Genetic variants for breast cancer risk assessment

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CN102144036A CN102144036A (zh) 2011-08-03
CN102144036B true CN102144036B (zh) 2014-07-16

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US (1) US8951735B2 (enExample)
EP (1) EP2313525A2 (enExample)
JP (1) JP2011527565A (enExample)
KR (1) KR20110036608A (enExample)
CN (1) CN102144036B (enExample)
AU (1) AU2009269542A1 (enExample)
CA (1) CA2729934A1 (enExample)
IL (1) IL210504A0 (enExample)
NZ (1) NZ590833A (enExample)
WO (1) WO2010004591A2 (enExample)

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WO2011095999A1 (en) * 2010-02-05 2011-08-11 Decode Genetics Ehf Genetic variants for predicting risk of breast cancer
HK1197085A1 (en) * 2011-06-16 2015-01-02 Decode Genetics Ehf Genetic variants for predicting risk of breast cancer
CN102643905B (zh) * 2012-04-01 2014-06-11 周宏灏 焦磷酸测序法检测他莫昔芬个体化用药基因多态性的试剂盒及方法
WO2014119914A1 (ko) * 2013-02-01 2014-08-07 에스케이텔레콤 주식회사 유전자 서열 기반 개인 마커에 관한 정보를 제공하는 방법 및 이를 이용한 장치
KR101770962B1 (ko) * 2013-02-01 2017-08-24 에스케이텔레콤 주식회사 유전자 서열 기반 개인 마커에 관한 정보를 제공하는 방법 및 이를 이용한 장치
WO2014145705A2 (en) 2013-03-15 2014-09-18 Battelle Memorial Institute Progression analytics system
CN103981273B (zh) * 2014-05-30 2017-01-18 复旦大学附属肿瘤医院 一组评估乳腺癌风险的突变基因群及其检测试剂盒
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
CN105069322B (zh) * 2015-07-24 2018-01-12 上海尔云信息科技有限公司 疾病易感风险预测装置
AU2017218149B2 (en) 2016-02-12 2020-09-03 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
CN105586427B (zh) * 2016-03-10 2020-06-19 厦门艾德生物医药科技股份有限公司 检测人类brca1和brca2基因突变的引物、试剂盒及方法
EP3516081A4 (en) * 2016-09-23 2020-07-29 Memorial Sloan Kettering Cancer Center DETERMINANTS OF CANCER RESPONSE TO IMMUNOTHERAPY
CN106676169B (zh) * 2016-11-15 2021-01-12 上海派森诺医学检验所有限公司 一种用于乳腺癌易感基因brca1和brca2突变检测的杂交捕获试剂盒及其方法
US20200102617A1 (en) * 2017-01-24 2020-04-02 Genetic Technologies Limited Improved Methods For Assessing Risk of Developing Breast Cancer
CN107341347A (zh) * 2017-06-27 2017-11-10 天方创新（北京）信息技术有限公司 基于评分模型对乳腺癌进行风险评分的方法及装置
EP3814521A4 (en) * 2018-06-29 2022-07-27 The Jackson Laboratory SPLICING VARIANTS FOR BREAST CANCER
CN108676890B (zh) * 2018-07-12 2022-01-28 吉林大学 一种女性乳腺恶性肿瘤易感性预测试剂盒及系统
EP4139508A4 (en) * 2020-04-20 2024-08-28 Myriad Genetics, Inc. COMPREHENSIVE POLYGENIC RISK PREDICTION FOR BREAST CANCER
WO2024085660A1 (ko) * 2022-10-18 2024-04-25 제노플랜 인크 질병 발생 위험도 예측 장치 및 방법
WO2024148280A1 (en) 2023-01-06 2024-07-11 Ideaya Biosciences, Inc. Treatment of er+ breast cancer comprising homologous recombination deficiency using parc inhibitor

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Publication number Publication date
CA2729934A1 (en) 2010-01-14
CN102144036A (zh) 2011-08-03
IL210504A0 (en) 2011-03-31
WO2010004591A3 (en) 2010-03-18
AU2009269542A1 (en) 2010-01-14
WO2010004591A2 (en) 2010-01-14
US20110294673A1 (en) 2011-12-01
KR20110036608A (ko) 2011-04-07
EP2313525A2 (en) 2011-04-27
US8951735B2 (en) 2015-02-10
JP2011527565A (ja) 2011-11-04
NZ590833A (en) 2013-01-25

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