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WO2003042409A3 - Mutation de la ligne germinale dans le promoteur genique de la caderine e et methode de diagnostic d'identification d'une sensibilite accrue a la carcinome gastrique - Google Patents

Mutation de la ligne germinale dans le promoteur genique de la caderine e et methode de diagnostic d'identification d'une sensibilite accrue a la carcinome gastrique Download PDF

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Publication number
WO2003042409A3
WO2003042409A3 PCT/IT2002/000729 IT0200729W WO03042409A3 WO 2003042409 A3 WO2003042409 A3 WO 2003042409A3 IT 0200729 W IT0200729 W IT 0200729W WO 03042409 A3 WO03042409 A3 WO 03042409A3
Authority
WO
WIPO (PCT)
Prior art keywords
caderine
promoter
gastric carcinoma
finding
sought
Prior art date
Application number
PCT/IT2002/000729
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English (en)
Italian (it)
Other versions
WO2003042409A8 (fr
WO2003042409A2 (fr
Inventor
Mauro Magnani
Francesco Graziano
Annamaria Ruzzo
Original Assignee
Univ Degli Studi Urbino
Mauro Magnani
Francesco Graziano
Annamaria Ruzzo
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 Univ Degli Studi Urbino, Mauro Magnani, Francesco Graziano, Annamaria Ruzzo filed Critical Univ Degli Studi Urbino
Priority to AU2002358976A priority Critical patent/AU2002358976A1/en
Publication of WO2003042409A2 publication Critical patent/WO2003042409A2/fr
Publication of WO2003042409A3 publication Critical patent/WO2003042409A3/fr
Publication of WO2003042409A8 publication Critical patent/WO2003042409A8/fr

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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
    • C12Q2600/156—Polymorphic or mutational markers

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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

L'invention concerne une méthode de diagnostic permettant d'identifier un polymorphisme génétique qui débouche sur une prédisposition accrue à l'apparition de carcinome gastrique. Selon cette méthode, on recherche la présence d'un polymorphisme possible au niveau du nucléotide 160 du promoteur du gène de la cadérine E. Ce polymorphisme implique la substitution nucléotidique de C (cytosine) par A (adénine) et l'amplification obtenue par la réaction de polymérase en chaîne permet de rechercher une méthode permettant l'amplification automatique du fragment génique à rechercher. Au cours de la technique de polymérase en chaîne, on utilise deux paires d'oligonucléotides A et B constitués de séquences de base spécifiques du gène de la cadérine E et soutenant la séquence d'intérêt au cours de deux réactions séparées.
PCT/IT2002/000729 2001-11-16 2002-11-15 Mutation de la ligne germinale dans le promoteur genique de la caderine e et methode de diagnostic d'identification d'une sensibilite accrue a la carcinome gastrique WO2003042409A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2002358976A AU2002358976A1 (en) 2001-11-16 2002-11-15 Germ line mutation in the promoter of e-caderine and diagnostic method for finding a greater susceptibility to gastric carcinoma

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
IT2001TO001077A ITTO20011077A1 (it) 2001-11-16 2001-11-16 Mutazioni della linea germinale nel promotore del gene della e-caderina e metodo di diagnosi per individuare una maggiore suscettibilita' a
ITTO01A001077 2001-11-16

Publications (3)

Publication Number Publication Date
WO2003042409A2 WO2003042409A2 (fr) 2003-05-22
WO2003042409A3 true WO2003042409A3 (fr) 2003-12-18
WO2003042409A8 WO2003042409A8 (fr) 2004-04-08

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IT2002/000729 WO2003042409A2 (fr) 2001-11-16 2002-11-15 Mutation de la ligne germinale dans le promoteur genique de la caderine e et methode de diagnostic d'identification d'une sensibilite accrue a la carcinome gastrique

Country Status (3)

Country Link
AU (1) AU2002358976A1 (fr)
IT (1) ITTO20011077A1 (fr)
WO (1) WO2003042409A2 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101106014B1 (ko) * 2008-12-04 2012-01-17 차의과학대학교 산학협력단 1번 염색체로부터 유래된 단일염기다형을 포함하는 폴리뉴클레오티드, 이를 포함하는 마이크로어레이 및 진단키트, 및 이를 이용한 분석방법

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999020168A2 (fr) * 1997-10-17 1999-04-29 University Of Otago Mutations de lignee germinale dans le gene de la e-cadherine et procede de detection d'une predisposition au cancer

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999020168A2 (fr) * 1997-10-17 1999-04-29 University Of Otago Mutations de lignee germinale dans le gene de la e-cadherine et procede de detection d'une predisposition au cancer

Non-Patent Citations (14)

* Cited by examiner, † Cited by third party
Title
BECKER K.-F. ET AL.: "SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN E-CADHERIN GENE", HUMAN GENETICS, vol. 96, no. 6, 1995, pages 739 - 740, XP000979504 *
BERX G. ET AL.: "E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers", EMBO JOURNAL, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 14, no. 24, 1995, pages 6107 - 6115, XP002204447, ISSN: 0261-4189 *
BERX GEERT ET AL: "Mutations of the human E-cadherin (CDH1) gene.", HUMAN MUTATION, vol. 12, no. 4, 1998, pages 226 - 237, XP009017827, ISSN: 1059-7794 *
BUSSEMAKERS M.J.G. ET AL.: "TRANSCRIPTIONAL REGULATION OF THE HUMAN E-CADHERIN GENE IN HUMAN PROSTATE CANCER CELL LINES: CHARACTERIZATION OF THE E-CADHERIN GENE PROMOTOR", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 203, no. 2, 15 September 1994 (1994-09-15), pages 1284 - 1290, XP002941271, ISSN: 0006-291X *
DEBRUYNE P ET AL: "The role of the E-cadherin/catenin complex in gastrointestinal cancer.", ACTA GASTRO-ENTEROLOGICA BELGICA. BELGIUM 1999 OCT-DEC, vol. 62, no. 4, October 1999 (1999-10-01), pages 393 - 402, XP009017828, ISSN: 0001-5644 *
GUILFORD P. ET AL.: "E-cadherin germline mutations in familial gastric cancer.", NATURE (LONDON), vol. 392, no. 6674, 26 March 1998 (1998-03-26), pages 402 - 405, XP002255108, ISSN: 0028-0836 *
GUILFORD P.: "E-cadherin downregulation in cancer: Fuel on the fire?", MOLECULAR MEDICINE TODAY, vol. 5, no. 4, April 1999 (1999-04-01), pages 172 - 177, XP001155310, ISSN: 1357-4310 *
HUMAR B. ET AL.: "Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer.", ONCOGENE, vol. 21, no. 53, 21 November 2002 (2002-11-21), pages 8192 - 8195, XP002255113, ISSN: 0950-9232 *
HUMAR B. ET AL.: "Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.", HUMAN MUTATION, vol. 19, no. 5, 2002, 2002, pages 518 - 525, XP009017719, ISSN: 1059-7794 *
IKONEN T. ET AL.: "Association of E-cadherin germ-line alterations with prostate cancer.", CLINICAL CANCER RESEARCH, vol. 7, no. 11, November 2001 (2001-11-01), pages 3465 - 3471, XP002255110, ISSN: 1078-0432 *
LI L.-C. ET AL.: "A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities.", CANCER RESEARCH, vol. 60, no. 4, 15 February 2000 (2000-02-15), pages 873 - 876, XP002255107, ISSN: 0008-5472 *
MATSUMURA T. ET AL.: "Frequent down-regulation of E-cadherin by genetic and epigenetic changes in the malignant progression of hepatocellular carcinomas.", CLINICAL CANCER RESEARCH, vol. 7, no. 3, March 2001 (2001-03-01), pages 594 - 599, XP002255111, ISSN: 1078-0432 *
RICHARDS F.M. ET AL.: "Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.", HUMAN MOLECULAR GENETICS, vol. 8, no. 4, April 1999 (1999-04-01), pages 607 - 610, XP002255109, ISSN: 0964-6906 *
WU M.-S. ET AL.: "Association of the -160 C->A promoter polymorphism of E-cadherin gene with gastric carcinoma risk.", CANCER, vol. 94, no. 5, 1 March 2002 (2002-03-01), pages 1443 - 1448, XP002255112, ISSN: 0008-543X *

Also Published As

Publication number Publication date
ITTO20011077A1 (it) 2003-05-16
WO2003042409A8 (fr) 2004-04-08
AU2002358976A1 (en) 2003-05-26
WO2003042409A2 (fr) 2003-05-22

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