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1. SELF-CONCEPT IN THE DANISH HNPCC COHORT Helle Vendel Petersen, Mary Jane Esplen, Steen Ladelund, Christina Carlsson, Inge Bernstein, Mef Nilbert,Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Copenhagen, Denmark
2. DIFFERENTIAL REGULATION OF WNT PATHWAY IN COLORECTAL CANCERS WITH OR WITHOUT MUTATOR PHENOTYPE P. Ortega1; A. Morán 1; C. Frías 1; C. de Juan 1;T. Fernández-Marcelo 1); S. Hernández2; J.A. López-Asenjo 2; A. Sánchez-Pernaute 2; A.J. Torres 2; P. Iniesta 1; M. Benito 1 1Departamento de Bioquímica y Biología Molecular II, Universidad Complutense, and 2Hospital Clínico San Carlos, 28040-Madrid (Spain)
3. MTHFR 677 C>T AND 1298 A>C POLYMORPHISMS AND THE AGE OF ONSET OF COLORECTAL CANCER IN HNPCC RJ Scott, SG Reeves, C Meldrum, C Groombridge, AD Spigelman, J Suchy, G Kurzawski, J Lubinski, P McElduff University of Newcastle, Division of Genetics, Hunter Area Pathology Service, Newcastle, Australia
4. MICRORNA-21 (MIR-21) POST-TRANSCRIPTIONALLY DOWNREGULATES ONCOGENE PLAG1 IN DNA MISMATCH REPAIR DEFECTIVE COLORECTAL CANCER Qian Mei, Hongli Yan, Xue Geng, Yuzhao Wang, Shuhan Sun The Department of Medical Genetics, the Second Military Medical University, Xiangyin Road, Shanghai, China
5. GERMLINE EPIMUTATIONS OF MLH1 AND P16 GENES IN SELECTED PATIENTS WITH SUSPECTED HEREDITARY GASTROINTESTINAL CANCER IN CHINESE Yimei Fan, Puyuan Wu, Jinyun Chen, Wenwen Guo, Heiying Jin, Nong Xiao, Jiayi Wu, Lu Ke, Xiaodong Huang, Yaping Wang Department of Medical Genetics, Medical School, Nanjing University and Jiangsu Key Laboratory of Molecular Medicine, Nanjing, China
6. KNOWLEDGE ABOUT HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; MUTATION CARRIERS AND PHYSICIANS AT EQUAL LEVELS Christina Carlsson, Katarina Domanska, Pär-Ola Bendahl, Mef Nilbert Institute of Clinical Science, Department of Oncology, Lund, Sweden
7. A PROSPECTIVE SINGLE BLINDED RANDOMIZED TRIAL OF POLYETHYLENE GLYCOL-ELECTROLYTE SOLUTION VS. SODIUM PHOSPHATE AS A BOWEL PREPARATION FOR COLONOSCOPY IN LYNCH SYNDROME GENE CARRIERS MWJ van Vugt - van Pinxteren, MH van Kouwen, MGH van Oijen, FM Nagengast Department of Gastroenterology, UMC St. Radboud Nijmegen, The Netherlands
8. THE RESULTS OF ROUTINE MICROSATELLITE INSTABILITY-ANALYSIS IN COLORECTAL CANCER PATIENTS < 70 YEARS. M.G.F. van Lier, A. Wagner, W.N.M. Dinjens, E.J. Kuipers, M.E. van Leerdam, E.W. Steyerberg Erasmus MC, University Medical Center, Rotterdam, The Netherlands
9. A COMPARATIVE STUDY OF QUANTITATIVE IMMUNOHISTOCHEMISTRY AND QUANTUM DOT IMMUNOHISTOCHEMISTRY FOR MISMATCH REPAIR PROTEINS IN LYNCH SYNDROME Emma Barrow, D Gareth Evans, Ray McMahon, James Hill, Richard Byers Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
10. QUANTITATIVE MULTIPLEX QUANTUM DOT IMMUNOHISTOCHEMISTRY FOR MISMATCH REPAIR PROTEINS IN COLORECTAL CANCER: A NOVEL METHODOLOGY Emma Barrow, D Gareth Evans, Ray McMahon, James Hill, Richard Byers Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
11. LYNCH SYNDROME IN ROSARIO, ARGENTINA: 3 YEARS EXPERIENCE. Co-authors: Enrique Spirandelli1, Sergio Chialina1, Florencia Spirandelli2,Fernando Serra2, Ariel Naves", Claudio Settecase2, Juan Carlos Moreno2, Gustavo Castellani2, Gustavo Botti2, Ana Maria Moriena2, Luciana Spirandelli2 . 2 integrantes del Servicio de Coloproctologia del Hospital Español-.1STEM SRL." Instituto de Histopatologia jefe del servicio de Coloproctologia Hospital Español de Rosario
12. NO ASSOCIATION BETWEEN MUTYH AND MSH6 GERMLINE MUTATIONS IN 64 HNPCC PATIENTS Verena Steinke1 , Nils Rahner1, Monika Morak2; Gisela Keller3, Hans K. Schackert4,Heike Görgens4,Wolff Schmiegel5, Brigitte Royer-Pokora6, Wolfgang Dietmaier7, Matthias Kloor8, Christoph Engel9, Peter Propping1, Stefan Aretz1 and The German HNPCC consortium 1Institute of Human Genetics, University of Bonn, Bonn, Germany; 2Institute of Human Genetics, Ludwig-Maximilians-University, Munich, Germany, and Center of Medical Genetics, Munich, Germany; 3Department of Pathology, Munich University of Technology, Munich, Germany; 4Department of Surgical Research, Technische Universität Dresden, Dresden, Germany; 5Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany; 6Institute of Human Genetics, Heinrich Heine University, Duesseldorf, Germany; 7Department of Pathology, University of Regensburg, Regensburg, Germany; 8Institute of Molecular Pathology, University of Heidelberg, Heidelberg, Germany; 9Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
13. UTILITY OF THE IMMUNOCHEMICAL EXPRESSION PROFILE IN THE IDENTIFICATION OF PATIENTS WITH LYNCH'S SYNDROME Alcaraz E, Alenda C, Payá A, Pérez L, Jover R, Rojas E, Soto JL, Castillejo A, Barberá VM. Hospital General Universitario Alicante, Alicante, Spain
14. RISK OF ENDOMETRIAL CANCER IN WOMEN DIAGNOSED WITH A LYNCH SYNDROME-RELATED COLORECTAL CARCINOMA Andreas Obermair1, Mark Clendenning2, Danny Youlden3, Joanne Young2, Mark Jenkins4. 1Gynaecological Oncology, Royal Brisbane and Women's Hospital, Herston,Australia; 2Familial Cancer Laboratory, Queensland Institute of Medical Research, Herston, Australia; 3Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Fortitude Valley, Australia; 4Centre for Molecular, Environmental, Genetic & Analytic Epidemiology, The University of Melbourne, Melbourne, Australia.
15. USEFULNESS OF THE IMMUNOHISTOCHEMICAL EXPRESSION PROFILE IN THE IDENTIFICATION OF PATIENTS WITH LYNCH'S SYNDROME Alcaraz E, Payá A, Pérez L, Jover R, Rojas E, Soto JL, Castillejo A, Barberá VM, Guillén C, Alenda C Hospital General Universitario Alicante, Alicante, Spain
16. TUMOR SPECTRUM IN FAMILIES WITH HEREDITARY NON-POLYPOSIS COLORECTAL CANCER Jenny von Salomé, Artur Pogosean, Annika Lindblom Karolinska Institute, Stockholm, Sweden
17. ASSESSMENT OF ROUTINE ANALYSIS OF MICROSATELLITE INSTABILITY BY DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY Liu Yanqun, Eu Kong Weng Singapore General Hospital, Dept. of Colorectal Surgery, Singapore General Hospital, Singapore
18. IS UPTAKE OF GENETIC TESTING FOR COLORECTAL CANCER INFLUENCED BY KNOWLEDGE OF INSURANCE IMPLICATIONS? Louise A Keogh, David M. Studdert, Judith Maskiell, Finlay Macrae, D. James St John, Clara Gaff, Mary Anne Young, Melissa C. Southey, Graham G. Giles, Doreen Rosenthal, John L. Hopper, Mark A. Jenkins Key Centre for Women's health in Society, The University of Melbourne, Carlton, Australia
19. CLINICOPATHOLOGICAL FEATURES OF GASTRIC CANCERS IN JAPANESE LYNCH SYNDROME FAMILY. -IS SURVEILLANCE GASTROSCOPY IS USEFUL FOR AFFECTED INDIVIDUALS IN JAPAN? Hitoshi Takeuchi1, Hideki Aoki1, Hitoshi Nakagawa1, Takashi Kanazawa1, Hiroshi Murata1, Takashi Arata1, Kunitoshi Shigeyasu1, Kiyoto Takehara1, and Nagahide Matsubara2 1 Department of Surgery, Iwakuni Clinical Center, 2 Department of Gastroenterological Surgery, Japanese Red Cross Society, Himeji Hospital, Iwakuni-city, Japan
20. THE CLINICOPATHOLOGICAL AND MOLECULAR FEATURES OF MICROSATELLITE INSTABILITY-LOW COLORECTAL CANCER Kiwamu Akagi, Shin-ichi Asaka, Yoji Nishimura, Kensei Yamaguchi, Tsutomu Ishikubo, Toshimasa Yatsuoka, Yoichi Tanaka Saitama Cancer Center, Saitama, Japan
21. PREVENTION OF ENDOMETRIAL TUMOURS, A RANDOMISED CONTROL TRIAL OF THE EFFECT OF THE MIRENA INTRAUTERINE SYSTEM (IUS) WITH SURVEILLANCE, VERSUS SURVEILLANCE ALONE, ON THE DEVELOPMENT OF ATYPICAL ENDOMETRIAL HYPERPLASIA (AEH) AND CARCINOMA (EC) IN WOMEN WITH LYNCH SYNDROME AGED 35-65Y. Professor Shirley Hodgson1, Peter Sasieni2, Victoria Murday3, Yorkhill Hospital, Glasgow; Eamonn Sheridan, Leeds General Infirmary, Leeds 1 St Georges, University of London; 2 Queen Mary University of London; 3 Yorkhill Hospital, Glasgow; Eamonn Sheridan, Leeds General Infirmary, Leeds
22. STUDIES OF COLORECTAL CANCER SUSCEPTIBILTY LOCI AT 8q24 AND 9p24 IN HYPERPLASTIC POLYPOSIS AND SERRATED PATHWAY CARCINOMAS OF THE COLON Daniel D. Buchanan, Mark A Jenkins, Diane McKeone, Michael D Walsh, David D Duggan, Kevin Sweet, Musa Drini, Dallas English, Graham Giles, John L Hopper, Michael Gattas, Minh Bui, James Dowty, Aedan Roberts, Mark Clendenning, Rhiannon Walters, Sven Arnold, Alasdair Young, Bruce Young, Derek Nancarrow, Amanda B Spurdle, Darshana Daftary, Jack Goldblatt, Jill George, Graeme K Suthers, Kerry Phillips, Graeme P Young, Elizabeth Chow, Susan Parry, Sonja Woodall, Amanda Muir, Michael Field, Sian Greening, Michael O Woods, Jane Green, Matthew Kalady, Steven Gallinger, Banford Younghusband, Annika Lindblom, Albert de la Chapelle, Finlay Macrae, Jeremy R Jass, Joanne P Young. Queensland Institute of Medical Research, Herston, Australia
23. MONONUCLEOTIDE PRECEDES DINUCLEOTIDE INSTABILITY DURING COLORECTAL TUMOUR DEVELOPMENT IN LYNCH SYNDROME PATIENTS Ferreira A.M.1, 4, Westers H.1, Niessen R.C.1, Wu Y.1, Olderode-Berends M.1, van der Sluis T.2, Reuvekamp P.T.W.1, Seruca R.4, Hollema H.2, Kleibeuker J.H.3, Sijmons R.H.1, Hofstra R.M.W.1 Departments of 1Genetics, 2Pathology, 3Gastroenterology, UMCG, University of Groningen, Groningen, the Netherlands. 4Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
24. MINOR" MISMATCH REPAIR GENES INVOLVEMENT IN GENETIC PREDISPOSITION TO LYNCH SYNDROME. Duraturo F., Liccardo R., Cavallo A., De Rosa M., Izzo P. Dep. of Medical Biochemistry and Biothecnology, University of Naples Federico II, Naples, Italy
25. SOMATIC BRAF-MUTATION IN THE TUMOUR OF A YOUNG HNPCC-PATIENT WITH PATHOGENIC MSH2 GERMLINE MUTATION - A MODIFYER OF THE AGE OF ONSET? Monika Morak 1,2, Gisela Keller 3, Martina Kerscher1, Andreas Laner2, Elke Holinski-Feder 1,2 and the German HNPCC Consortium University Hospital of the Ludwig-Maximilians-University and MGZ - Center of Medical Genetics, Munich, Germany
26. INDUCTION OF HERITABLE METHYLATION IN ONE OF THIRTEEN HNPCC-CASES WITH MLH1 PROMOTER METHYLATION IN BLOOD Monika Morak 1,2, Gisela Keller 3, Holger Vogelsang 4, Nils Rahner 5, Hans Konrad Schackert 6, Brigitte Royer-Pokora 7, Karsten Schulmann 8, Elke Holinski-Feder 1,2 and the German HNPCC Consortium University Hospital of the Ludwig-Maximilians-University, Campus Innenstadt and MGZ - Center of Medical Genetics, Munich, Germany
27. cDNA ANALYSES IN PATIENTS SUSPECTED OF HEREDITATY NON POLYPOSIS COLORACTAL CANCER Monika Morak1,2, Susanne Keinath1, Trisari Maßdorf1, Elke Holinski-Feder1,2 and the German HNPCC Consortium University Hospital of the Ludwig-Maximilians-University, Campus Innenstadt and MGZ - Center of Medical Genetics, Munich, Germany
28. MICROSATELLITE INSTABILITY FOR LYNCH SYNDROME DIAGNOSIS IN CHILE: A MULTICENTRIC STUDY Carolina A. Ríos1, Jorge Muñoz1, Leonardo Espindola2, Juan Ignacio Vergara2, Mario Abedrapo3, Claudio Muñoz3, Yamile Corredoira4, Jaime Contreras5, Isabel Castro6, Mónica Acuña1, Lucía Cifuentes1. 1Laboratorio de Epidemiología Genética, Facultad de Medicina, Universidad de Chile. 2Servicio de Cirugía, Hospital Militar de Santiago. 3Servicio de Cirugía, Hospital Clínico Universidad de Chile. 4Departamento de Anatomía Patológica, Hospital Clínico San Borja Arriarán, Campus Centro, Facultad de Medicina, Uiversidad de Chile. 5Departamento de Cirugía, Hospital Clínico San Borja Arriarán, Campus Centro, Facultad de Medicina, Universidad de Chile. 6Escuela de Tecnología Médica, Facultad de Medicina, Universidad de Chile. Santiago, Chile
29. IDENTIFICATION OF THE MLH1 AND MSH2 GENES MUTATIONS IN GREEK COLORECTAL CANCER PATIENTS Georgia Thodi, Fostira Florentia, Sandaltzopoulos Raphael, Yannoukakos Drakoulis National Center of Scientific Research "Demokritos", Athens, Greece
30. SURGEONS'S DECISION ANALYSIS IN LYNCH SYNDROME: BILATERAL SYNCHRONOUS CANCER AND A FIRM RECOMMENDATION BY THE FAMILIAL CANCER CLINIC ARE THE MAIN FACTORS DIRECTING TOWARD SUB TOTAL COLECTOMY Zohar Levi, Paul Rozen1 M.B., B.S., Franklin Grief 2 MD, Rabin Medical Center, Pethach Tikva, Israel
31. MSH6 & I-1307K MUTATION IN A YOUNG ARABIC PATIENT WITH EARLY CRC Zohar Levi, Paul Rosen, Miri Roth, Inbal Barnes Keidar,Yaron Niv Rabin Medical Center, Pethach Tikva, Israel
32. PATIENT PREFERENCES FOR RISK MANAGEMENT STRATEGIES IN WOMEN WITH LYNCH SYNDROME Charlotte C. Sun, Susan K. Peterson, Kristin White, Beatty Watts, Molly Daniels, Stephanie Boyd-Rogers, Kathleen Schmeler, Diane C. Bodurka, Karen H. Lu Univ. Texas M. D. Anderson Cancer Center, Houston, Texas, USA
33. FUNCTIONAL CHARACTERIZATION OF THE MUTL HOMOLOG 1 (MLH1) -93 G>A PROMOTER POLYMORPHISM Bharati Bapat, Sheron Perera, Miralem Mrkonjic, James Rawson Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Department of Lab Medicine and Pathobiology, University of Toronto, Toronto, Canada
34. ADENOMAS IN LYNCH SYNDROME: DIAGNOSTICALLY USEFUL? Michael D Walsh, Daniel D Buchanan, Sven Arnold, Mark Clendenning, Rhiannon Walters, John L Hopper, Mark A Jenkins, Jeremy R Jass, Joanne Young Queensland Institute of Medical Research, Brisbane, Australia
35. SOFT TISSUE SARCOMAS AND HEREDITARY NON POLYPOSIS COLORECTAL CANCER (HNPCC) SYNDROME: FORMULATION OF AN HYPOTHESIS. Urso E 1, Agostini M 1, Pucciarelli S 1, Mammi I 1, Viel A 2 , Maretto I1, Nitti D 1 1: Clinica Chirurgica 2^, Dipartimento di Scienze Oncologiche e Chirurgiche, Azienda Ospedaliera-Università di Padova, Italy. 2 : Oncologia Sperimentale 1^, Centro Regionale Oncologico -IRCCS, Aviano, Italy
36. MLH1 WHOLE GENE DELETION WITH EARLY ONSET OVARIAN CANCER AND INTELLECTUAL DELAY – INHERITED OR DE NOVO? Jessica Koehler Prince of Wales Hospital, Randwick, NSW, Australia
37. MISMATCH REPAIR DEFICIENCY SCREENING VIA IMMUNOHISTOCHEMICAL STAINING IN EARLY-ONSET ASIAN COLORECTAL CANCERS Poh-Koon Koh , Yan-Sheng Tan, Carol Loi, Choong-Leong Tang, Kong-Weng Eu Singapore Polyposis Registry, Department of Colorectal Surgery, Singapore General Hospital, Singapore
38. PILOT STUDY OF IMMUNOHISTOCHEMISTRY(IHC) TESTING IN LYNCH SYNDROME Carol Loi, Koh Poh Koon, Tang Choong Leong, Eu Kong Weng Department of Colorectal Surgery, Singapore General Hospital, Singapore
39. MICROSATELLITE INSTABILITY AND CELLULAR GLYCANS: EVIDENCE FOR A CORRELATION BY GENE RECONSTITUTION? Georgios Patsos1,2, Sabine André2, Nina Roeckel1, Roland Gromes1, Hans-Joachim Gabius2, Juergen Kopitz1, Johannes Gebert1 1Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, D-69120 Heidelberg, Germany; and 2Institute of Physiological Chemistry, Faculty of Veterinary Medicine, Ludwigs-Maximilians-University, D-80539 Munich, Germany
40. MUTATIONAL INACTIVATION OF A GLYCOPROTEIN TRANSPORTER (LMAN1) IN MSI COLORECTAL ADENOMAS AND CARCINOMAS Nina Röckel, Woerner, S.M., Kloor, M., Patsos, G., Gromes R., Karl M., Kopitz, J., Gebert, J. Institute of Pathology ATB, Heidelberg, Germany
41. EXTENT OF BOWEL RESECTION IN YOUNG PATIENTS WITH COLORECTAL CANCER: WHAT IS HAPPENING? Parry S, Wright D, Willdridge G, Parry B, Bissett I New Zealand Familial Gastrointestinal Registry, Auckland City Hospital, Auckland, New Zealand
42. (DELETED)
43. PRELIMINARY FINDINGS FROM A QUALITATIVE STUDY OF THE REASONS INDIVIDUALS DECLINE THE OFFER OF GENETIC TESTING FOR COLORECTAL CANCER Louise A Keogh, Mcclaren, Ms Belinda, Maskiell, Mrs Judith, Gaff, Assoc Prof Clara, Hopper, Prof John, Jenkins, Dr Mark Key Centre for Women's health in Society, The University of Melbourne, Carlton, Australia
44. OPTIMUM CLINICAL & MOLECULAR STRATEGIES TO SCREEN FOR LYNCH SYNDROME. Michael P. Farrell, M.J. Kennedy, D. Flannery, T.J. Boyle, B.J. Mehigan, R.B. Stephens, S.A. White, C.B. Muldoon1, A.J. Green, S.T. Duke2. 1. St. James’s Hospital & Trinity College Dublin. 2. National Centre for Medical Genetics, Dublin.
45. FUNCTIONAL STUDIES OF UNCLASSIFIED VARIANTS OF THE HUMAN MISMATCH REPAIR PROTEIN MLH1 IN THE YEAST SACCHAROMYCES CEREVISIAE Karin Hardt1, Sven Boris Heik2, Johannes H, Hegemann2, Brigitte Royer-Pokora1 and the German HNPCC Consortium; 1 Institut fuer Humangenetik, Heinrich Heine Universitaet, Duesseldorf; 2 Institut fuer Funktionelle Genomforschung, Heinrich Heine Universitaet, Duesseldorf
46. GERMLINE ALLELE-SPECIFIC EXPRESSION OF TGFBR1: PROMOTER METHYLATION AND FREQUENCY IN AFRICAN AMERICANS AND IN COLORECTAL CANCER WITH MISMATCH REPAIR DEFICIENCY Laura Valle(1,2), Tarsicio Serena-Acedo(1), Sandya Liyanarachchi(1), Heather Hampel(1), Ilene R. Comeras(1), Stephan M. Tanner(1), Albert de la Chapelle(1) 1. Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH. 2. Present affiliation: Laboratori de Recerca Translacional, Institut Catalá d’Oncologia, Barcelona, Spain.
47. FAMILY HISTORY COMPARED TO AGE AS INDICATOR FOR MSI-TESTING RESULTS IN A COMPARABLE POSITIVE PREDICTIVE VALUE FOR LYNCH SYNDROME N. Hoogerbrugge, P. Manders, C.M. Kets, A. van Remortele, K. Landsbergen, R. Willems, D. Bodmer, K.M. Hebeda, J.H.J.M. van Krieken, M.J.L. Ligtenberg. Radboud University Medical Centre Nijmegen, The Netherlands, Departments of Human Genetics and Pathology
48. HYPERPLASTIC POLYPOSIS SYNDROME: A PILOT STUDY FOR THE DIFFERENTIATION OF POLYPS USING HIGH RESOLUTION ENDOSCOPY, AUTOFLUORESCENCE IMAGING AND NARROW-BAND IMAGING K.S. Boparai, F.J.C. van den Broek, S. van Eeden, P. Fockens, E. Dekker Academic Medical Centre, Amsterdam, The Netherlands
49. COMPARISON OF GENETIC SUSCEPTIBILITY PREDICTION MODELS IN A COHORT OF PATIENTS SUSPECTED FOR LYNCH SYNDROME DeCarli A., Petracci E.,Sala P, Radice P, Signoroni S, and Bertario L Institute of Medical Statistics and Biometry “Giulio A. Maccacaro”, University of Milan, Italy.2Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy Department of Medicine, Surgery and Dentistry, Unit of Medical Statistics, University of Milan, Italy Adress: Via Venezian1 20133
50. SHARING THE RESPONSIBILITY: A MULTIDISCIPLINARY MODEL IMPROVES COLORECTAL CANCER MICROSATELLITE INSTABILITY TESTING Brandie Leach, Charis Eng, Matthew F Kalady, Carol A Burke, Richard R Sharp, James Church, Mary Bronner Cleveland Clinic, Cleveland, Ohio, USA
51. A HOMOZYGOTE SPLICE SITE PMS2 MUTATION AS CAUSE OF TURCOT SYNDROME GIVES RISE TO TWO DIFFERENT ABNORMAL TRANSCRIPTS Wenche Sjursen and Inga Bjørnevoll, Helge Myrvold, Lars F. Engebretsen, Tore Halvorsen Dep. of pathology and medical genetics, St Olavs University Hospital, Trondheim, Norway
52. PRACTICAL USEFULNESS AND PROBLEM OF IMMUNOHISTOCHEMISTRY AND MICROSATELLITE INSTABILITY TEST FOR RECRUITMENT OF HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA PATIENTS Noriko Motoi , Yurika Mitsuhashi, Tomoyo Kakita, Mayumi Ogawa, Yuri Sato, Masami Arai, Yo Kato Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan
53. INTEGRATED EVALUATION OF UNCLASSIFIED VARIANTS IN THE MISMATCH REPAIR GENES Pastrello Chiara, Pin Elisa, Agostini Marco, Barana Daniela, Fornasarig Mara, Tibiletti Maria Grazia, Quaia Michele, Ponz de Leon Maurizio, Pucciarelli Salvatore, Viel Alessandra Centro di Riferimento Oncologico, Aviano (PN) , Italy
54. HIGH DENSITY OF FOXP3-POSITIVE T CELLS AND DENDRITIC CELLS INFILTRATING COLORECTAL CANCERS WITH MICROSATELLITE INSTABILITY Sara Michel, Kathrin Bauer, Axel Benner, Mirjam Tariverdian, Nicolas Wentzensen, Petra Hoefler, Magnus von Knebel Doeberitz, Matthias Kloor Institute of Pathology, University of Heidelberg, Heidelberg, Germany
55. COMPARATIVE ANALYSIS OF CODING MICROSATELLITE MUTATIONS IN MICROSATELLITE UNSTABLE COLORECTAL CANCERS OF HEREDITARY AND SPORADIC ORIGIN Maike Voss, Sara Michel, Wolfgang Dippold, Rudolf Wagner, Axel Benner, Stefan M. Woerner, Magnus von Knebel Doeberitz, Matthias Kloor Institute of Pathology, University of Heidelberg, Heidelberg, Germany
56. IMMUNOSELECTIVE PRESSURE AND BETA2-MICROGLOBULIN MUTATIONS IN MICROSATELLITE UNSTABLE COLORECTAL TUMORS Matthias Kloor, Sara Michel, Josef Rüschoff, Reinhard Büttner, Elke Holinski-Feder, Hans-Konrad Schackert, Wolfgang Dippold, Rudolf Wagner, Mirjam Tariverdian, Martina Kadmon, Axel Benner, Yvette Garbe, Magnus von Knebel Doeberitz, and the German HNPCC consortium
57. A HIGHLY SENSITIVE DNA METHYLATION MARKER FOR LYNCH SYNDROME ASSOCIATED COLORECTAL CANCER EHJ van Roon, C Tops, H Vasen, T van Wezel, F Hes, M van Puijenbroek ,JM Boer and H Morreau
58. REPLICATION OF COLORECTAL CANCER RISK VARIANTS IN A DUTCH CLINICAL-BASED COHORT Middeldorp A, Jagmohan-Changur S, van Eijk R, Forte GI, M. van Puijenbroek, Devilee, P, Vasen, H, Hes, F, Houwing-Duistermaat JJ, Wijnen JT, Morreau H, van Wezel T
59. IN SILICO ANALYSES AND EXPERIMENTAL VALIDATION OF MLH1 AND MSH2 SPLICE SITE AND MISSENSE MUTATIONS Beate Betz1, Stephan Theiss2, Murat Aktas1,3, Carolin Konermann4, Timm O. Goecke1, Gabriela Möslein5, Heiner Schaal4 and Brigitte Royer-Pokora1 1 Institut fuer Humangenetik, Universitaetsklinikum Duesseldorf, 2 RESULT GmbH, Duesseldorf 3 Institut fuer Transplantationsdiagnostik und Zelltherapeutika, Universitaetsklinikum Duesseldorf 4 Institut fuer Virologie, Universitaetsklinikum Duesseldorf 5 Klinik fuer Chirurgie, St Josefs-Hospital Bochum-Linden
60. LYNCH SYNDROME IN 81 UNRELATED BRAZILLIAN PATIENTS Benedito Mauro Rossi, Mev Dominguez, Ligia Petrolini de Oliveira, Erika Maria Monteiro Santos, Dirce Maria Carraro, Renata de Almeida Coudry Hospital A.C. Camargo, Sao Paulo, Brazil
61. HUMANIZING THE YEAST MSH2 PROTEIN: FUNCTIONAL ANALYSIS OF HUMAN MSH2 MISSENSE MUTATIONS IN YEAST Sven Boris Heick, Frauke Herbst, Johannes H. Hegemann and the German HNPCC Consortium Funktionelle Genomforschung, Duesseldorf, Germany
62. MUTATION ANALYSIS OF THE MMR GENES IN PATIENTS WITH SUSPICION OF HNPCC FROMCASTILLA-LEON (SPAIN:IDENTIFICATION OF A NOVEL AND RECURRENT DELETION IN MSH2. L. Pérez-Cabornero, E. Velasco, M. Infante, D.J. Sanz, A. Acedo, L.Hernandez, N. Martinez, E. Lastra, C.miner, M.Durán Instituto de Biología y Genética Molecular (IBGM), Valladolid, SPAIN
63. ANALYSIS OF COLONIC AND EXTRA-COLONIC TUMORS IN CHILEAN PATIENTS WITH LYNCH SYNDROME. 1 Claudio Heine T. 1M. De la Fuente, 1K. Álvarez, 1E. Pinto, 1U. Kronberg, 1A.M Wielandt, 1,2P. Orellana, 2P. Carvallo, 1F. López-Köstner. 1Colorectal Surgery Unit. Oncology and Molecular Genetics Laboratory, Clínica las Condes. Santiago, Chile. 2Human Molecular Genetics Laboratory, Pontificia Universidad Católica de Chile. Santiago, Chile.
64. A NOVEL COMPLETE DETAILED ANALYSIS OF THE INSIGHT GLOBAL DNA MISMATCH REPAIR (MMR) GENE LOCUS SPECIFIC MUTATION DATABASE (LDSB): THE INSIGHT HUMAN VARIOME PROJECT PILOT Azarbayejani, A.1; Ady, J.1; Lai, V.1; Shin, J.1; Yuan, Z.5; Peltomaki, P.2; Moeslein, G.3; Macrae, F.4; Sas, D.1; Weber, T.1, 5 1. Surgery, Albert Einstein College of Medicine, New York, NY, USA; 2. University of Helsinki, Helsinki, Finland; 3. St. Josefs Hospital, Dusseldorf, Germany; 4. The Royal Melbourne Hospital, Melbourne, VIC, Australia; 5. Molecular Genetics, Albert Einstein College of Medicine, New York, NY, USA.
65. Chromocolonoscopy Detects more Adenomas than White Light Colonoscopy or Narrow Band Imaging Colonoscopy in Hereditary Nonpolyposis Colorectal Cancer Screening Hüneburg R1, Lammert F1, Rabe C1, Rahner N2, Kahl P3, Propping P2 , Büttner R3, Sauerbruch T1, Lamberti C1. 1 Dep. of Internal Medicine I, 2 Institute of Human Genetics, 3 Institute of Pathology
66. FAMILIAL COLORECTAL CANCER TYPE X TUMOURS PRESENT FREQUENTLY CHROMOSOMAL INSTABILITY, APC ALLELIC LOSS AND SPECIFIC KRAS MUTATIONS Inês Francisco (1), C Albuquerque(1), H Belo(1), B Filipe(1), I Vitoriano(1), J Dinis(1), P Lage(2), I Claro(2), S Ferreira(2), P Rodrigues(2), C Nobre Leitão(2). (1)Centro de Investigação de Patobiologia Molecular (CIPM); (2)Serviço de Gastroenterologia - Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE (IPOLFG, EPE), Portugal
67. COLORECTAL CANCERS SHOW DISTINCT MUTATIONAL SPECTRA IN MEMBERS OF THE WNT PATHWAY ACCORDING TO ANATOMICAL LOCALIZATION AND GENETIC INSTABILITY Cristina Albuquerque(5), Célia Baltazar(1), Bruno Filipe(1), Filipa Penha(1), Teresa Pereira(2), Ron Smits(3), Marília Cravo(4), Pedro Lage(4), Paulo Fidalgo(4), Isabel Veiga(5), José Silva Ramos(6), Isabel Fonseca(2), Carlos Nobre Leitão(4) and Riccardo Fodde(3) (1)Centro de Investigação de Patobiologia Molecular (CIPM), (2)Serviço de Anatomia Patológica e (4)Serviço de Gastrenterologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE – Lisboa, Portugal; (3)Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands; (5)Serviço de Genética - Instituto Português de Oncologia do Porto Francisco Gentil, EPE - Porto, Portugal; (6)Serviço de Gastrenterologia, Hospital dos Capuchos, Lisboa, Portugal
68. RECOMMENDATION FOR THE CURRENT ENDOSCOPIC TECHNIQUE IN THE SURVEILLANCE OF HNPCC GENE CARRIERS Hüneburg R1, Sauerbruch T1, Lamberti C1 1 Dep. of Internal Medicine I
69. FLAT ADENOMAS: THE PREDOMINANT LESION IN HNPCC CARRIERS? Hüneburg R1, Lammert Frank1,4, Rabe C1, Rahner, N2, Kahl P3, Büttner R3, Propping P2, Sauerbruch T1, Lamberti C1,5 , 1 Department of Internal Medicine I, University of Bonn 2 Institute of Human Genetics, University of Bonn 3 Institute of Pathology, University of Bonn 4 Department of Internal Medicine II, University of Homburg/Saar 5 Department of Internal Medicine, Klinikum Coburg
70. DO PRECURSOR POLYP BURDENS HELP DISTINGUISH LYNCH VERSUS NON-LYNCH MICROSATELLITE UNSTABLE COLORECTAL CANCERS? Craig Messick, James M. Church, MB, ChB, Graham Casey, PhD, Matthew F. Kalady, MD Cleveland Clinic, Cleveland, Ohio, USA
71. SOMATIC INACTIVATION OF DNA MISMATCH-REPAIR GENES IN CANCERS OF LYNCH SYNDROME PATIENTS Michal Kovac1, Giancarlo Marra2, Zdena Bartosova3, Stephane Hubert4, Pascale Rieder-Knell4 and Karl Heinimann1 1Research Group Human Genetics, Dept. of Biomedicine, University of Basel, Switzerland; 2Institute of Molecular Cancer Research, University of Zurich, Switzerland; 3Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovakia; 4Sequencing Facility, Novartis Pharma AG, Basel, Switzerland
72. METHYLATION SPECIFIC MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION IN THE ANALYSIS OF MLH1 PROMOTER HYPERMETHYLATION. Lars Henrik Jensen, Jan Lindebjerg, Lene Byriel, Steen Kølvraa, Dorthe Crüger. Danish Colorectal Cancer Group South, University of Southern Denmark and Vejle Hospital, Vejle, Denmark
73. DIAGNOSTIC MICROSATELLITE INSTABILITY TESTING IN LYNCH SYNDROME: DIFFERENT TUMOURS, DIFFERENT MARKERS Kenneth Porter, Nathan Curtis, Lisa Happerfield, Mark J Arends, Ian M Frayling University of Southampton School of Medicine, Southampton General Hospital, Southampton, UK
74. ASSESSING BRAF V600E USEFULNESS IN THE ANALYTICAL ALGORITHM OF LYNCH SYNDROME M. Gausachs1, M. Pineda1, M. Menéndez1, C. Lázaro1, I. Blanco2, S. González1, G. Capellá1. 1Laboratori de Recerca Translacional and 2Unitat de Consell Genètic, Institut Català d’Oncologia, IDIBELL, l’Hospitalet de Llobregat, Spain
75. IDENTIFICATION OF THE FIRST SPANISH FOUNDER MUTATIONS IN THE MLH1 GENE M. Pineda1*, E. Borràs1*, I. Blanco2, G. Llort3, T. Caldés4, M. Urioste5, C. Martínez-Bouzas6, B. Graña7, J. Balmaña8, A. Torres9, T. Ramón y Cajal10, J. Sanz9,11, M. Durán11, S. Castellví-Bel12, , S. González1, C. Lázaro1, G. Capellá1 1Laboratori de Recerca Translacional, Institut Català d’Oncologia, IDIBELL, Hospitalet de Llobregat, Spain; 2Unitat de Consell Genètic, Institut Català d’Oncologia, IDIBELL, Hospital Duran i Reynals, Hospitalet de Llobregat, Spain; 3Unitat de Consell Genètic, Institut Català d’Oncologia, Hospital Germans Trias i Pujol, Badalona, Spain; 4Laboratorio de Oncología Molecular, Hospital Clínico Sant Carlos, Madrid, Spain; 5Departamento de Genética Humana, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain; 6Laboratorio de Genética Molecular, Hospital de Cruces, Bizkaia, Spain; 7Unitat d'Avaluació del Risc de Càncer i Consell Genètic, Institut Català d'Oncologia, Hospital Universitari Josep Trueta, Girona, Spain; 8Servei d’Oncologia Mèdica, Hospital Vall d’Hebron, Barcelona, Spain; 9Unitat de Consell Genètic, Hospital Universitari Sant Joan, Reus, Spain; 10Servei d’Oncologia Mèdica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; 11Institut d'Oncologia Corachan-Centre Mèdic, Barcelona, Spain; 12Servei de Gastroenterologia, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, Barcelona, Spain; 13Instituto de Biología y Genética Molecular, Valladolid, Spain.
76. INSIGHT’S MISMATCH REPAIR DATABASE POSITIONED AS THE LEAD PILOT FOR THE HUMAN VARIOME PROJECT Macrae FA, Moeslein G, Genuardi M, STavtigian, Weber T, Bernstein I, Spigelman A, Woods M, Sijmons R, den Dunnen J, Burn J, Peltomaki P, Vasen H, Morreau H, Du Sart D, Howard H, L Cavedon, Smith T, Cotton for the InSIGHT/Human Variome Project.
77. GENETICS AND PUBLIC HEALTH: THE CONVINCING CASE OF LYNCH SYNDROME Raj Ramesar, Alvera Vorster, Ursula Algar, Douglas Stupart, Paul Goldberg University of Cape Town, Division of Human Genetics, Observatory, South Africa
78. THE ADDITIVE EFFECT OF P53 ARG72PRO AND RNASEL ARG462GLN GENOTYPES ON AGE OF DISEASE ONSET IN HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (HNPCC) PATIENTS WITH PATHOGENIC GERMLINE MUTATIONS IN MSH2/MLH1 Schackert HK, Engel C, Bier A, Silber AS, Görgens H, Verena Steinke, Peter Propping, Holinski-Feder E, von Knebel Doeberitz M, Royer-Pokora B, Dechant S, Schulmann K, Rahner N, Büttner R, Krüger S and the German HNPCC Consortium
79. CLINICAL AND GENETIC CHARACTERISTICS OF JAPANESE HNPCC Yoichi Furukawa, Teruhiko Yoshida, Yusuke Nakamura, and Yoshihiro Moriya Institute of Medical Science, The University of Tokyo, Tokyo, Japan
80. MOLECULAR GENETIC ANALYSIS AND CLINICAL FEATURES IN CHINESE HEREDITARY NON-POLYPOSIS COLORECTAL CANCER Ye Xu, Sanjun Cai, Fangqi Liu Shanghai Cancer Hospital of Fudan University, Shanghai, China
81. CAN MLH1 METHYLATION DISTINGUISH SUBSETS OF MICROSATELLITE UNSTABLE COLON CANCER? Matthew F. Kalady, Julian Sanchez, Kathryn DeJulius, Graham Casey, James M. Church Departments of Colorectal Surgery, Cancer Biology, and The Sanford R. Weiss Center for Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio, USA
82. IMPORTANCE OF SUPPORT TO THE ENCOURAGEMENT FOR RELATIVES IN HNPCC FAMILIES AFTER GENETIC COUNSELLING Noriko Ishii, M.Arai, Y.Miki Cancer Institute Hospital, Clinical Genetic Oncology, Tokyo, Japan
83. PRIMARY PERITONEAL CANCER FOLLOWING BILATERAL SALPINGO-OOPHORECTOMY IN TWO PATIENTS WITH LYNCH SYNDROME Kathleen M. Schmeler MD, Molly S. Daniels MS; Pamela T. Soliman MD, MPH; Russell R. Broaddus MD, PhD; Michael T. Deavers MD; Thuy M. Vu MS; George J. Chang MD, MS; Karen H. Lu MD MD Anderson Cancer Center, Houston, Texas, USA
84. ANTICIPATION IN HEREDITARY NON-POLYPOSIS COLORECTAL CANCER Susanne Timshel, Christina Therkildsen, Pär-Ola Bendahl, Inge Bernstein, Mef Nilbert HNPCC register, Hvidovre University Hospital, Hvidovre, Denmark
85. MMRPRO: NEW FEATURES AND VALIDATIONS Sining Chen, Amanda Blackford, Betty Doan, Giovanni Parmigiani et al. John Hopkins University, Morris Plains, USA
86. EARLY DETECTION OF UPPER GASTROINTESTINAL CANCERS BY ENDOSCOPY IN PATIENTS WITH LYNCH SYNDROME Masami Arai,Toshiharu Yamaguchi, Masatoshi Oya, Junko Fujisaki, Masahiro Igarashi, Kensuke Kuraoka, Hiroshi Takahashi, Tetsuichiro Muto The Cancer Institute Hospital of JFCR, Tokyo, Japan
87. CLASSIFYING MISMATCH REPAIR GENE VARIANTS IDENTIFIED IN COLON CANCER PATIENTS USING A COMPREHENSIVE APPROACH. Carol Paterson, Felicity Lose, Kaltin Ferguson, David Goldgar, Sean Tavtigian, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael Walsh, Michael Woods, John Hopper, Mark Jenkins, Daniel Buchanan, Joanne Young, Amanda Spurdle Queensland Intitute of Medical Research, Brisbane, Australia
88. ESTABLISHING PATHOGENICITY OF GERMLINE MISMATCH REPAIR MUTATIONS: A BAYESIAN MODEL Ian Frayling, Eamonn Sheridan, Diana Eccles Institute of Medical Genetics. University Hospital of Wales, Cardiff, UK
89. ESTROGEN-RECEPTOR PATHWAY AND MICROSATELLITE UNSTABLE TUMOURS: A PROMISING LINK Ana Monteiro Ferreira1,5, Iina Niittymäki3, Sónia Sousa5, Monika Zazula4, , Harry Hollema2, Rolf H. Sijmons1, Jerzy Stachura4, Lauri A. Aaltonen3, Raquel Seruca5, Helga Westers1, Robert M. W. Hofstra1 Departments of 1Genetics, 2Pathology,University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. 3Department of Medical Genetics, University of Helsinki, Helsinki, Finland. 4Department of Pathomorfology, Medical College, Jagiellonian University, Krakow, Poland.5Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
90. INFLUENCE OF ASPIRIN AND NSAIDS ON COLORECTAL CANCER RISK AND SURVIVAL F Din 1, E Theodoratou 2, S Farrington 1; A Tenesa 1; R Barnetson 1, R Cetnarskyj 3, L Stark 1, M Porteous 3; H Campbell 2, M Dunlop 1. 1. Colon Cancer Genetics Group 2. Public Health Sciences & 3. Department of Clinical Genetics, University of Edinburgh, UK
91. AMALGAMATION OF THE INSIGHT MUTATION DATABASE WITH THE MMR GENES VARIANT DATABASE Michael Woods, Amanda Dohey, Finlay Macrae, Johan den Dunnen, John Burn, Paivi Peltomaki, Hans Vasen
92. AN IMPORTANT ROLE FOR RNA BASED MUTATION SCANNING IN THE MISMATCH REPAIR GENE PMS2 H.M. van der Klift, C.M. Tops2, E.C. Bik2, M.W. Boogaard2, H. Morreau3, F. Hes2, P. Devilee1,3, J.T. Wijnen1,2
93. SCREENING FOR GERMLINE MUTATIONS OF MLH1, MSH2, MSH6 AND PMS2 GENES IN SLOVENIAN COLORECTAL CANCER PATIENTS: IMPLICATIONS FOR A POPULATION SPECIFIC HNPCC DETECTION STRATEGY Damjan Glavac, Gasper Berginc Faculty of Medicine, Dep. of Molecular Genetics, Ljubljana, Slovenia
94. RAPID AND ACCURATE APPROACH FOR SCREENING OF MICROSATELLITE UNSTABLE TUMOURS USING QUASIMONOMORPHIC MONONUCLEOTIDE REPEATS AND DENATURATING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY (DHPLC) Metka Ravnik-Glavac, Gasper Berginc, Damjan Glavac Faculty of Medicine, Dep. of Molecular Genetics, Ljubljana, Slovenia
95. VALUE OF ADJUVANT CHEMOTHERAPY IN HNPCC-RELATED COLON CANCER. DATA FROM THE GERMAN HNPCC CONSORTIUM K. Schulmann, C. Engel, P. Propping, H.K. Schackert, B. Royer-Pokora, M. v. Knebel-Doeberitz, E. Holinski-Feder, M. Löffler, R. Büttner, W. Schmiegel for the German HNPCC Consortium
96. GERMLINE HMSH2 PROMOTER MUTATION IN A CHINESE HNPCC KINDRED: EVIDENCE FOR DUAL ROLE OF LOH Hong-Li Yan, Geng Xue, Qian Mei, Yuzhao Wang, Shu-Han Sun*
97. CLINICAL FEATURES AND MISMATCH REPAIR GENES ANALYSES OF CHINESE SUSPECTED HEREDITARY NON-POLYPSIS COLORECTAL CANCER: A COST-EFFECTIVE SCREENING STRATEGY PROPOSAL Hong-Li Yan, Li-Qiang Hao, Hei-Ying Jin, Qing-He Xing, Geng Xue, Qian Mei, Lin He*, Shu-Han Sun*
98. IDENTIFICATION OF MULTIPLE NEW COLORECTAL CANCER GENETIC RISK FACTORS: POTENTIAL FOR RISK PROFILING IN THE GENERAL POPULATION Malcolm Dunlop, Ian Tomlinson and Richard Houlston; and the CoGent Consortium.
99. BASE ESCISION REPAIR PATHWAY IN MICROSATELLITE STABLE TUMORS FROM HEREDITARY NON-POLYPOSIS COLORECTAL CANCER Trinidad Caldes, P. Garre1, V. Briceño1, O. Valentin1, R. Xicola2, X. Llor2, M. de la Hoya1and T. Caldes1
Hospital Clinico San Carlos, Madrid, Spain
100. HEREDITARY NONPOLYPOSIS COLORECTAL CANCER IN 688 FAMILIES: MUTATIONS, AGE OF DIAGNOSIS AND CANCER INCIDENCE Bente A. Talseth-Palmer1,2 , Mary McPhillips3, Cliff Meldrum3 Claire Groombridge4, Allan D. Spigelman5 and Rodney J. Scott1,2,3 1 School of Biomedical Sciences, University of Newcastle, NSW, 2308, Australia 2 Hunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, 2305, Australia 3 Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, 2305, Australia 4 Hunter Family Cancer Service, Hunter New England Health, NSW 2305, Australia 5 St Vincent’s Hospital Clinical School, Sydney, NSW