WO2010004589A3 - Genetic variants predictive of cancer risk in humans - Google Patents

Genetic variants predictive of cancer risk in humans Download PDF

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Publication number
WO2010004589A3
WO2010004589A3 PCT/IS2009/000006 IS2009000006W WO2010004589A3 WO 2010004589 A3 WO2010004589 A3 WO 2010004589A3 IS 2009000006 W IS2009000006 W IS 2009000006W WO 2010004589 A3 WO2010004589 A3 WO 2010004589A3
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WO
WIPO (PCT)
Prior art keywords
risk
genetic variants
humans
cancer risk
predictive
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.)
Ceased
Application number
PCT/IS2009/000006
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French (fr)
Other versions
WO2010004589A2 (en
Inventor
Simon Stacey
Patrick Sulem
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Decode Genetics ehf
Original Assignee
Decode Genetics ehf
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Filing date
Publication date
Application filed by Decode Genetics ehf filed Critical Decode Genetics ehf
Priority to US13/002,605 priority Critical patent/US20120122698A1/en
Priority to AU2009269540A priority patent/AU2009269540A1/en
Priority to CA2729931A priority patent/CA2729931A1/en
Priority to EP09787618A priority patent/EP2313523A2/en
Publication of WO2010004589A2 publication Critical patent/WO2010004589A2/en
Publication of WO2010004589A3 publication Critical patent/WO2010004589A3/en
Priority to IL210503A priority patent/IL210503A0/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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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
    • C12Q2600/106—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
    • C12Q2600/136—Screening for pharmacological compounds
    • 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
    • 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
    • C12Q2600/172—Haplotypes

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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

The present invention discloses genetic variants that have been found to be predictive of risk of particular forms of cancer, in particular basal cell carcinoma and cutaneous melanoma. The invention provides methods of predicting risk of developing such cancers, and other methods pertaining to risk management of cancer utilizing such risk variants. The invention furthermore provides kits and computer systems for use in such methods.
PCT/IS2009/000006 2008-07-07 2009-07-03 Genetic variants predictive of cancer risk in humans Ceased WO2010004589A2 (en)

Priority Applications (5)

Application Number Priority Date Filing Date Title
US13/002,605 US20120122698A1 (en) 2008-07-07 2009-07-03 Genetic Variants Predictive of Cancer Risk in Humans
AU2009269540A AU2009269540A1 (en) 2008-07-07 2009-07-03 Genetic variants predictive of cancer risk in humans
CA2729931A CA2729931A1 (en) 2008-07-07 2009-07-03 Genetic variants predictive of cancer risk in humans
EP09787618A EP2313523A2 (en) 2008-07-07 2009-07-03 Genetic variants predictive of cancer risk in humans
IL210503A IL210503A0 (en) 2008-07-07 2011-01-06 Genetic variants predictive of cancer risk in humans

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
IS8745 2008-07-07
IS8745 2008-07-07

Publications (2)

Publication Number Publication Date
WO2010004589A2 WO2010004589A2 (en) 2010-01-14
WO2010004589A3 true WO2010004589A3 (en) 2010-03-25

Family

ID=41055324

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IS2009/000006 Ceased WO2010004589A2 (en) 2008-07-07 2009-07-03 Genetic variants predictive of cancer risk in humans

Country Status (6)

Country Link
US (1) US20120122698A1 (en)
EP (1) EP2313523A2 (en)
AU (1) AU2009269540A1 (en)
CA (1) CA2729931A1 (en)
IL (1) IL210503A0 (en)
WO (1) WO2010004589A2 (en)

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US8338109B2 (en) 2006-11-02 2012-12-25 Mayo Foundation For Medical Education And Research Predicting cancer outcome
CA2725978A1 (en) 2008-05-28 2009-12-03 Genomedx Biosciences, Inc. Systems and methods for expression-based discrimination of distinct clinical disease states in prostate cancer
US10407731B2 (en) 2008-05-30 2019-09-10 Mayo Foundation For Medical Education And Research Biomarker panels for predicting prostate cancer outcomes
US9495515B1 (en) 2009-12-09 2016-11-15 Veracyte, Inc. Algorithms for disease diagnostics
US10236078B2 (en) 2008-11-17 2019-03-19 Veracyte, Inc. Methods for processing or analyzing a sample of thyroid tissue
US9074258B2 (en) 2009-03-04 2015-07-07 Genomedx Biosciences Inc. Compositions and methods for classifying thyroid nodule disease
US8669057B2 (en) 2009-05-07 2014-03-11 Veracyte, Inc. Methods and compositions for diagnosis of thyroid conditions
WO2010131268A1 (en) * 2009-05-11 2010-11-18 Decode Genetics Ehf Genetic variants for basal cell carcinoma, squamous cell carcinoma and cutaneous melanoma
US10446272B2 (en) 2009-12-09 2019-10-15 Veracyte, Inc. Methods and compositions for classification of samples
US20130267443A1 (en) 2010-11-19 2013-10-10 The Regents Of The University Of Michigan ncRNA AND USES THEREOF
US10513737B2 (en) 2011-12-13 2019-12-24 Decipher Biosciences, Inc. Cancer diagnostics using non-coding transcripts
ES3015226T3 (en) 2012-08-16 2025-04-30 Veracyte Sd Inc Prostate cancer prognosis using biomarkers
US9679104B2 (en) 2013-01-17 2017-06-13 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US9792405B2 (en) 2013-01-17 2017-10-17 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US10068054B2 (en) 2013-01-17 2018-09-04 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US10847251B2 (en) 2013-01-17 2020-11-24 Illumina, Inc. Genomic infrastructure for on-site or cloud-based DNA and RNA processing and analysis
US10691775B2 (en) 2013-01-17 2020-06-23 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
GB2523495A (en) 2013-01-17 2015-08-26 Edico Genome Corp Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US11976329B2 (en) 2013-03-15 2024-05-07 Veracyte, Inc. Methods and systems for detecting usual interstitial pneumonia
US9760686B2 (en) 2014-04-10 2017-09-12 International Business Machines Corporation Balanced ultraviolet light exposure recommendations
US12297505B2 (en) 2014-07-14 2025-05-13 Veracyte, Inc. Algorithms for disease diagnostics
CN114606309A (en) 2014-11-05 2022-06-10 威拉赛特公司 Diagnostic system and method using machine learning and high-dimensional transcription data
EP3329491A2 (en) 2015-03-23 2018-06-06 Edico Genome Corporation Method and system for genomic visualization
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US20170270245A1 (en) 2016-01-11 2017-09-21 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing
US10068183B1 (en) 2017-02-23 2018-09-04 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on a quantum processing platform
EP3414691A1 (en) 2016-02-12 2018-12-19 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
US11414708B2 (en) 2016-08-24 2022-08-16 Decipher Biosciences, Inc. Use of genomic signatures to predict responsiveness of patients with prostate cancer to post-operative radiation therapy
AU2018210695B2 (en) 2017-01-20 2024-07-18 The University Of British Columbia Molecular subtyping, prognosis, and treatment of bladder cancer
WO2018165600A1 (en) 2017-03-09 2018-09-13 Genomedx Biosciences, Inc. Subtyping prostate cancer to predict response to hormone therapy
CN107043821A (en) * 2017-04-26 2017-08-15 成都中创清科医学检验所有限公司 Primer and detection method for detecting the related SNP site of cutaneum carcinoma neurological susceptibility
US11078542B2 (en) 2017-05-12 2021-08-03 Decipher Biosciences, Inc. Genetic signatures to predict prostate cancer metastasis and identify tumor aggressiveness
US11217329B1 (en) 2017-06-23 2022-01-04 Veracyte, Inc. Methods and systems for determining biological sample integrity
AU2018310987A1 (en) 2017-08-04 2020-02-27 Decipher Biosciences, Inc. Use of immune cell-specific gene expression for prognosis of prostate cancer and prediction of responsiveness to radiation therapy
CN109680075B (en) * 2019-01-11 2020-12-04 山东农业大学 A method for purification of Belgian furred rabbits based on genotype selection
CN114005488A (en) * 2021-11-30 2022-02-01 深圳明灏生物科技有限公司 Gene detection system integrating extraction and detection
WO2023172848A1 (en) 2022-03-08 2023-09-14 Illumina, Inc. Multi-pass software-accelerated genomic read mapping engine

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Patent Citations (1)

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Non-Patent Citations (5)

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Title
GUDBJARTSSON DANIEL F ET AL: "ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma", NATURE GENETICS, NATURE PUBLISHING GROUP, NEW YORK, US, vol. 40, no. 7, 1 July 2008 (2008-07-01), pages 886 - 891, XP002518142, ISSN: 1061-4036 *
STACEY SIMON N ET AL: "Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits", NATURE GENETICS, vol. 40, no. 11, November 2008 (2008-11-01), pages 1313 - 1318, XP002545915, ISSN: 1061-4036 *
SULEM PATRICK ET AL: "Genetic determinants of hair, eye and skin pigmentation in Europeans", NATURE GENETICS, NATURE PUBLISHING GROUP, NEW YORK, US, vol. 39, no. 12, 1 December 2007 (2007-12-01), pages 1443 - 1452, XP002518141, ISSN: 1061-4036 *
YIN J ET AL: "Multiple single nucleotide polymorphisms on human chromosome 19q13.2-3 associate with risk of basal cell carcinoma", CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION, PHILADELPHIA, PA, vol. 11, no. 11, 1 November 2002 (2002-11-01), pages 1449 - 1453, XP002261348, ISSN: 1055-9965 *
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Also Published As

Publication number Publication date
WO2010004589A2 (en) 2010-01-14
EP2313523A2 (en) 2011-04-27
US20120122698A1 (en) 2012-05-17
IL210503A0 (en) 2011-03-31
CA2729931A1 (en) 2010-01-14
AU2009269540A1 (en) 2010-01-14

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