Title:
COMPOUNDS AND METHODS FOR ASSESSMENT OF MICROSATELLITE INSTABILITY (MSI) STATUS
Document Type and Number:
WIPO Patent Application WO2006042854
Kind Code:
A3
Abstract:
The present invention provides a method for assessment of the Microsatellite Instability (MSI) status of medically relevant conditions associated with MSI phenotype such as e.g. neoplastic lesions. The method is based on the analysis of a monomorphic T25 (CAT25) mononucleotide repeat located in 5 the 3'-UTR of the Caspase 2 (CASP2) gene. Based on the determination of the length of the named mononucleotide repeat the presence or absence of MSI may be assessed. Determination of the length is performed in a single PCR procedure. Alternatively an enhanced assessment could be performed by combining the CAT25 marker with further markers such as BAT25 and 10 BAT26 in a single multiplex PCR process.
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Inventors:
FINDEISEN PETER (DE)
MERX SABINE (DE)
KLOOR MATTHIAS (DE)
VON KNEBEL DOEBERITZ MAGNUS (DE)
MERX SABINE (DE)
KLOOR MATTHIAS (DE)
VON KNEBEL DOEBERITZ MAGNUS (DE)
Application Number:
PCT/EP2005/055375
Publication Date:
June 15, 2006
Filing Date:
October 19, 2005
Export Citation:
Assignee:
MTM LAB AG (DE)
FINDEISEN PETER (DE)
MERX SABINE (DE)
KLOOR MATTHIAS (DE)
VON KNEBEL DOEBERITZ MAGNUS (DE)
FINDEISEN PETER (DE)
MERX SABINE (DE)
KLOOR MATTHIAS (DE)
VON KNEBEL DOEBERITZ MAGNUS (DE)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2001029262A2 | 2001-04-26 |
Foreign References:
| EP0640828A1 | 1995-03-01 | |||
| EP1340819A1 | 2003-09-03 |
Other References:
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THORSTENSEN L ET AL: "WNT1 inducible signaling pathway protein 3, WISP-3, a novel target gene in colorectal carcinomas with microsatellite instability.", GASTROENTEROLOGY. DEC 2001, vol. 121, no. 6, December 2001 (2001-12-01), pages 1275 - 1280, XP002337304, ISSN: 0016-5085
SUTTER C ET AL: "Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system", MOLECULAR AND CELLULAR PROBES, ACADEMIC PRESS, LONDON, GB, vol. 13, no. 2, April 1999 (1999-04-01), pages 157 - 165, XP004450201, ISSN: 0890-8508
LOGETTE EMMANUELLE ET AL: "The human caspase-2 gene: Alternative promoters, pre-mRNA splicing and AUG usage direct isoform-specific expression.", ONCOGENE, vol. 22, no. 6, 13 February 2003 (2003-02-13), pages 935 - 946, XP002337305, ISSN: 0950-9232
DATABASE Geneseq [online] 15 July 2002 (2002-07-15), "Human spliced transcript detection oligonucleotide SEQ ID NO:8521.", XP002337351, retrieved from EBI accession no. GSN:ABN35773 Database accession no. ABN35773
"ABI PRISM 310 Genetic Analyser-The measure of enabling technology.", PRODUCT BULLETIN, 2002, pages 1 - 6, XP002337306, Retrieved from the Internet
"ABI PRISM 3100 Genetic analyser", PRODUCT BROCHURE FROM APPLIED BIOSYSTEMS, 2001, pages 1 - 8, XP002337307, Retrieved from the Internet
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DATABASE GENBANK [online] 17 December 2003 (2003-12-17), "Homo sapiens caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) (CASP2), transcript variant 1, mRNA.", XP002373466, retrieved from NCBI Database accession no. NM_032982.2
DATABASE GENBANK [online] 5 October 2003 (2003-10-05), "Homo sapiens caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) (CASP2), transcript variant 1, mRNA.", XP002337350, retrieved from NCBI Database accession no. NM_032982.1
BANERJEA AYAN ET AL: "Colorectal cancers with microsatellite instability display mRNA expression signatures characteristic of increased immunogenicity.", MOLECULAR CANCER [ELECTRONIC RESOURCE]. 6 AUG 2004, vol. 3, no. 1, 6 August 2004 (2004-08-06), pages 21(1) - 21(11), XP002337308, ISSN: 1476-4598
TAKEUCHI SEISHO ET AL: "Frameshift mutations in caspase-5 and other target genes in leukemia and lymphoma cell lines having microsatellite instability.", LEUKEMIA RESEARCH, vol. 27, no. 4, April 2003 (2003-04-01), pages 359 - 361, XP002337320, ISSN: 0145-2126
FINDEISEN PETER ET AL: "T-25 repeat in the 3 ' untranslated region of the CASP2 gene: A sensitive and specific marker for microsatellite instability in colorectal cancer", CANCER RESEARCH, vol. 65, no. 18, September 2005 (2005-09-01), pages 8072 - 8078, XP002373166, ISSN: 0008-5472
THORSTENSEN L ET AL: "WNT1 inducible signaling pathway protein 3, WISP-3, a novel target gene in colorectal carcinomas with microsatellite instability.", GASTROENTEROLOGY. DEC 2001, vol. 121, no. 6, December 2001 (2001-12-01), pages 1275 - 1280, XP002337304, ISSN: 0016-5085
SUTTER C ET AL: "Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system", MOLECULAR AND CELLULAR PROBES, ACADEMIC PRESS, LONDON, GB, vol. 13, no. 2, April 1999 (1999-04-01), pages 157 - 165, XP004450201, ISSN: 0890-8508
LOGETTE EMMANUELLE ET AL: "The human caspase-2 gene: Alternative promoters, pre-mRNA splicing and AUG usage direct isoform-specific expression.", ONCOGENE, vol. 22, no. 6, 13 February 2003 (2003-02-13), pages 935 - 946, XP002337305, ISSN: 0950-9232
DATABASE Geneseq [online] 15 July 2002 (2002-07-15), "Human spliced transcript detection oligonucleotide SEQ ID NO:8521.", XP002337351, retrieved from EBI accession no. GSN:ABN35773 Database accession no. ABN35773
"ABI PRISM 310 Genetic Analyser-The measure of enabling technology.", PRODUCT BULLETIN, 2002, pages 1 - 6, XP002337306, Retrieved from the Internet
"ABI PRISM 3100 Genetic analyser", PRODUCT BROCHURE FROM APPLIED BIOSYSTEMS, 2001, pages 1 - 8, XP002337307, Retrieved from the Internet
DATABASE Geneseq [online] 2 July 2002 (2002-07-02), "Human gene specific PCR primer #866.", XP002337352, retrieved from EBI accession no. GSN:ABK66778 Database accession no. ABK66778
DATABASE Geneseq [online] 26 July 2002 (2002-07-26), "Human caspase 2 antisense inhibitor oligonucleotide #36.", XP002337353, retrieved from EBI accession no. GSN:ABN74858 Database accession no. ABN74858
DATABASE Geneseq [online] 20 November 2003 (2003-11-20), "Human MDZ7 scanning oligonucleotide SEQ ID 5326.", XP002337354, retrieved from EBI accession no. GSN:ADB04340 Database accession no. ADB04340
DATABASE GENBANK [online] 17 December 2003 (2003-12-17), "Homo sapiens caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) (CASP2), transcript variant 1, mRNA.", XP002373466, retrieved from NCBI Database accession no. NM_032982.2
DATABASE GENBANK [online] 5 October 2003 (2003-10-05), "Homo sapiens caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) (CASP2), transcript variant 1, mRNA.", XP002337350, retrieved from NCBI Database accession no. NM_032982.1
BANERJEA AYAN ET AL: "Colorectal cancers with microsatellite instability display mRNA expression signatures characteristic of increased immunogenicity.", MOLECULAR CANCER [ELECTRONIC RESOURCE]. 6 AUG 2004, vol. 3, no. 1, 6 August 2004 (2004-08-06), pages 21(1) - 21(11), XP002337308, ISSN: 1476-4598
TAKEUCHI SEISHO ET AL: "Frameshift mutations in caspase-5 and other target genes in leukemia and lymphoma cell lines having microsatellite instability.", LEUKEMIA RESEARCH, vol. 27, no. 4, April 2003 (2003-04-01), pages 359 - 361, XP002337320, ISSN: 0145-2126
FINDEISEN PETER ET AL: "T-25 repeat in the 3 ' untranslated region of the CASP2 gene: A sensitive and specific marker for microsatellite instability in colorectal cancer", CANCER RESEARCH, vol. 65, no. 18, September 2005 (2005-09-01), pages 8072 - 8078, XP002373166, ISSN: 0008-5472
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