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WO2008142521A3 - Functional assay to investigate unclassified sequence variants of mismatch repair genes - Google Patents

Functional assay to investigate unclassified sequence variants of mismatch repair genes Download PDF

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Publication number
WO2008142521A3
WO2008142521A3 PCT/IB2008/001218 IB2008001218W WO2008142521A3 WO 2008142521 A3 WO2008142521 A3 WO 2008142521A3 IB 2008001218 W IB2008001218 W IB 2008001218W WO 2008142521 A3 WO2008142521 A3 WO 2008142521A3
Authority
WO
WIPO (PCT)
Prior art keywords
mismatch repair
investigate
sequence variants
functional assay
repair genes
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/IB2008/001218
Other languages
French (fr)
Other versions
WO2008142521A2 (en
Inventor
Wind Niels De
Mark Drost
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.)
Leids Universitair Medisch Centrum LUMC
Original Assignee
Leids Universitair Medisch Centrum LUMC
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Leids Universitair Medisch Centrum LUMC filed Critical Leids Universitair Medisch Centrum LUMC
Publication of WO2008142521A2 publication Critical patent/WO2008142521A2/en
Publication of WO2008142521A3 publication Critical patent/WO2008142521A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C12Q1/683—Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]

Landscapes

  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

The present invention relates to methods of conducting in vitro functional mismatch repair assays, in order to detect whether a mismatch repair gene from a test subject, is incapable of functioning, when the mismatch repair gene comprises a mutation. Such assays are of use in detecting whether or not a subject may be predisposed or have an increased risk of developing cancer, such as hereditary nonpolyposis colorectal cancer (HNPCC).
PCT/IB2008/001218 2007-05-17 2008-05-15 Functional assay to investigate unclassified sequence variants of mismatch repair genes Ceased WO2008142521A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GB0709445.1 2007-05-17
GB0709445A GB0709445D0 (en) 2007-05-17 2007-05-17 Functional assay to investigate unclassified sequence variants of mismatch repair genes

Publications (2)

Publication Number Publication Date
WO2008142521A2 WO2008142521A2 (en) 2008-11-27
WO2008142521A3 true WO2008142521A3 (en) 2009-02-26

Family

ID=38234576

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2008/001218 Ceased WO2008142521A2 (en) 2007-05-17 2008-05-15 Functional assay to investigate unclassified sequence variants of mismatch repair genes

Country Status (2)

Country Link
GB (1) GB0709445D0 (en)
WO (1) WO2008142521A2 (en)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11773449B2 (en) 2017-09-01 2023-10-03 The Hospital For Sick Children Profiling and treatment of hypermutant cancer

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
FI20115709A0 (en) * 2011-07-01 2011-07-01 Helsingin Yliopisto A method for the diagnosis of hereditary cancers

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2005123961A2 (en) * 2004-06-14 2005-12-29 Ambry Genetics Corporation Approaches to identifying mutations associated with hereditary nonpolyposis colorectal cancer

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2005123961A2 (en) * 2004-06-14 2005-12-29 Ambry Genetics Corporation Approaches to identifying mutations associated with hereditary nonpolyposis colorectal cancer

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
IYER RAVI R ET AL: "DNA mismatch repair: functions and mechanisms.", CHEMICAL REVIEWS FEB 2006, vol. 106, no. 2, February 2006 (2006-02-01), pages 302 - 323, XP002507091, ISSN: 0009-2665 *
KARIOLA R ET AL: "Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome", HUMAN MOLECULAR GENETICS 20020515 GB, vol. 11, no. 11, 15 May 2002 (2002-05-15), pages 1303 - 1310, XP002507088, ISSN: 0964-6906 *
NIELSEN FINN CILIUS ET AL: "Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA.", ONCOGENE, vol. 23, no. 7, 19 February 2004 (2004-02-19), pages 1457 - 1468, XP002507090, ISSN: 0950-9232 *
NYSTROM-LAHTI M ET AL: "Functional analysis of MLHI mutations linked to hereditary nonpolyposis colon cancer", GENES CHROMOSOMES AND CANCER 2002 US, vol. 33, no. 2, 2002, pages 160 - 167, XP002507087, ISSN: 1045-2257 *
WANG H ET AL: "Mismatch repair in human nuclear extracts. Quantitative analyses of excision of nicked circular mismatched DNA substrates, constructed by a new technique employing synthetic oligonucleotides", JOURNAL OF BIOLOGICAL CHEMISTRY 20020719 US, vol. 277, no. 29, 19 July 2002 (2002-07-19), pages 26136 - 26142, XP002507089, ISSN: 0021-9258 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11773449B2 (en) 2017-09-01 2023-10-03 The Hospital For Sick Children Profiling and treatment of hypermutant cancer

Also Published As

Publication number Publication date
GB0709445D0 (en) 2007-06-27
WO2008142521A2 (en) 2008-11-27

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