Session 1192: Familial and Hereditary Cancer

Cochair(s): P Hainaut, WC Hahn
Date: Mon 11 February 2002, Time: 11:30 - 13:00
Location: Amphithéâtre Duclaux

Oral Presentations

Time Number Title / Authors / Affiliations
11:30 219 Maternal mosaicism for a second mutational event, a novel deletion, might induce a more severe clinical manifestations in the siblings of a familial adenomatous polyposis family harboring a new germ-line mutation in exon 9, due to the alternative splicing mechanism in the APC gene.
D Amikam, S Davidson, L Leshanski, G Rennert, S Eidelman
1Molecular Oncology Laboratory, 3Gastroenterology Institute; Rambam Medical Center, Haifa, Israel, 2Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, 4Department of Biotechnology in Medicine, Tel-Hai Academic College, Tel-Hai, Israel
11:45 220 Sporadic hemangioblastoma of the CNS and von Hippel-Lindau diseases-updated results
M Smrcka, O Novotny, V Smrcka, R Gaillyova, E Krepelova
1Masaryk University Brno Medical School, University Hospital Brno, Czech Republic, Czech Republic, 2Depatment of Medical Genetics, University Hospital Brno, Czech Republic, Czech Republic, 3Department of Medical Genetics, University General Hospital, Prague, Czech Republic
12:00 221 Molecular genetic testing for Neurofibromatosis type 1 (NF1).
LM Messiaen, T Callens, N Goderis, G Mortier, F Speleman, A De Paepe
Dpt. Medical Genetics, Ghent University Hospital, Belgium
12:15 222 Spontaneously immortalised T cell lines from Nijmegen Breakage Syndrome (NBS) patients demonstrate abnormal G1/S arrest and gains of 2p and 8q
JK Siwicki, S Degerman, M Berglund, C Larsson, J Rygier, K Chrzanowska, G Roos
1Department of Immunology, Maria Sklodowska Memorial Cancer Center and Institute of Oncology, Poland, Sweden, 2Department of Medical Biosciences, Pathology, Umea University, Umea, Sweden, 3Department of Molecular Medicine, Karolinska Hospital, Sweden, Warsaw, 4Cytogenetic Laboratory, Maria Sklodowska Memorial Cancer Center and Institute of Oncology, Poland, Warsaw, 5Department of Medical Genetics, Children Memorial Health Institute, Warsaw, Poland
12:30 223 The Transforming Growth Factor-alpha/Epidermal Growth Factor Receptor growth stimulatory axis in atypical proliferation of renal epithelial cells
N de Paulsen, S Lee
Faculty of Medicine, Department of Cellular and Molecular Medicine and Kidney Research Center, University of Ottawa, Ottawa, Ontario Canada
12:45 224 Role of the epidermal growth factor receptor (EGFR) in the development of malignant peripheral nerve sheath tumors (MPNST) in patients with neurofibromatosis type 1 (NF1) and in animal models of NF1
D Clue, H Li, WC Vass, N Ratner
1Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, and, 2University of Cincinnati College of Medicine, Cincinnati, OH 45267
13:00 225 Molecular analysis of hereditary colorectal cancer: Familial adenomatous polyposis and Turcots sindrome
M De Rosa, MI Scarano, L Panariello, G Romano, G Riegler, GB Rossi, G Pettinato, P Izzo
1Dipto Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, and, 2Dipto Scienze Biomorfologiche e Funzionali, Università di Napoli, Federico, Napoli, 3Chirurgia Generale, Ospedale Moscato, Avellino, 4Cattedra di Gastroenterologia, Seconda Università di Napoli, and, Fondazione G. Pascale, 5Endoscopia Digestiva, Ist. Nazionale Tumori, Fondazione G. Pascale, Napoli

Poster Presentations

Number Title / Authors / Affiliations
226 Impact of the molecular and clinical screening in Brazilian families with von Hippel-Lindau disease (VHL)
JCC Rocha, AA Camargo, RLA Silva, O Caballero, AJG Simpson
1Hospital do Cancer AC Camargo - Sao Paulo, Sao Paulo, Brazil, 2Ludwig Institute for Cancer Research - Sao Paulo branch, Sao Paulo, Brazil
227 *Preventive genetic screening for detection of inherited medullary thyroid carcinoma (MTC): outcome of the five years program
M Wiench, J Wloch, Z Wygoda, E Gubala, D Lange, M Oczko, J Roskosz, A Kukulska, B Jarzab
Dept. of Nuclear Medicine and Endocrine Oncology, Center of Oncology – Maria Sklodowska-Curie Memorial Institute, Gliwice Branch, Poland
228 Differential expression of hMLH1 and hMSH2 as a potential prognostic biomarker in bladder cancer
G Xinarianos, JWF Catto, JL Burton, FC Hamdy, M Meuth
1a) Institute for Cancer Studies, Academic Unit of Urology, University of Sheffield, United Kingdom, Sheffield, United Kingdom, 2Academic Unit of Pathology, University of Sheffield, United Kingdom
229 Establishment of a new criteria for cancer risk assessment in a Brazilian cancer center
SN Silva, MJS Floria, MIW Achatz, BM Rossi, RR Brentani, JCC Rocha
1Department of Oncogenetics, Hospital do Cancer A.C. Camargo, Sao Paulo, Brazil, 2Ludwig Institute for Cancer Research - Sao Paulo branch, Sao Paulo, Brazil
230 Screening for predisposing mutations in Polish families with Li-Fraumeni/Li-Fraumeni- like syndrome or with breast and ovarian cancer.
L Fiszer-Maliszewska, M Bebenek, B Gorski, B Kazanowska, G Kurzawski, A Sikorska, D Sorokin, B Wojciechowska
1Institute of Immunology & Experimental Therapy, Wroclaw, Poland, 2Oncology Center, Wroclaw, Poland, 3Pomeranian Academy of Medicine, Szczecin, Poland, 4Wroclaw Medical University, Wroclaw, Poland, 5Institute of Hematology & Blood Transfusion, Warszawa, Poland
231 Chromosomal radiosensitivity in lymphocytes of breast cancer patients with a family history of breast cancer.
A Baeyens, H Thierens, K Claes, L Messiaen, L de Ridder, A Vral
1Department of Anatomy, Embryology, Histology and Medical Physics, , 2Department of Medical Genetics University of Gent, Belgium
232 Detection of oncogenic HPV DNA sequences in sporadic retinoblastoma
MA Palazzi, JA Yunes, IA Cardarelli, G Stangenhaus, SR Brandalise, SA Ferreira, JSP Sobrinho, LL Villa
1Boldrini's Children Center, Campinas, Sao Paulo Brazil, 2Department of Virology, Ludwig Institute for Cancer Research, Sao Paulo, Brazil
233 Facial resurfacing in xeroderma pigmentosum with chemical peeling
D Kang, D Ahn
Department of Plastic and Reconstructive Surgery, Korea University Hospital, Seoul, Korea Republic
234 Congenital hypertrophy of the retinal pigment epithelium and APC gene mutations in familial adenomatous polyposis
CP Pang, JWY Keung, NLS Tang, DSP Fan, JWY Lau, L Baum, Lam
1Department of Ophthalmology & Visual Sciences, 2Department of Chemical Pathology, 3Department of Surgery; the Chinese University of Hong Kong, Hong Kong, China
235 A case of woman from the breast/ovarian cancer family, with mutation in BRCA1 gene and elevated CA-125 serum level.
K Kaczanowska, JR Kowalczyk, T Byrski, J Lubinski
Department of Pediatric Hematology and Oncology, Department of Genetics and Pathology, Medical Acedemy Lublin, Poland, Hereditary Cancer Center
236 Investigations of hereditary background of breast and ovarian cancer in Polish families of Pomeranian - Kujawski region.
O Haus
Dept Clinical Genetics, University of Medicine, Bydgoszcz, Poland
237 The effect of hormonal and demographic factors on clinical presentation of BRCA1/2 carriers
L Kadouri, B Uzieli, A Hubert, M Gibs, T Hamburger, Z Gueta, I Lerer, N Weinberg, P Ever-Hadani, D Abeliovich, T Peretz
1a) Sharett Institute of Oncology, Human Genetic Laboratory, 2a) Sharett Institute of Oncology, Department of Biostatistics; Hadassah Medical Center, Jerusalem, Israel)
238 Genetic analysis of APC gene in the diagnostics of familial adenomatous polyposis
S Kapitanovic, T Cacev, K Pavelic
1Division of Molecular Medicine, Ruder Bokovic Institute, Zagreb, Croatia, 2PLIVA d.d, Research & Development, Zagreb, Croatia