ISPO

Familial and Hereditary Cancer

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

D Amikam, S Davidson, L Leshanski, G Rennert, S Eidelman

Sporadic hemangioblastoma of the CNS and von Hippel-Lindau diseases-updated results

M Smrcka, MD, O Novotny, MD, V Smrcka, MD, R Gaillyova, MD, E Krepelova, MD,

Molecular genetic testing for Neurofibromatosis type 1 (NF1).

LM Messiaen, PhD, T Callens, N Goderis, G Mortier, MD, PhD, F Speleman, PhD, A De Paepe, MD, PhD

Spontaneously immortalised T cell lines from Nijmegen Breakage Syndrome (NBS) patients demonstrate abnormal G1/S arrest and gains of 2p and 8q

J.K.Siwicki PhD , S. Degerman MSc, M. Berglund MSc, C. Larsson MD, PhD, J. Rygier MSc , K. Chrzanowska MD, PhD, G. Roos MD, PhD

The Transforming Growth Factor-alpha/Epidermal Growth Factor Receptor growth stimulatory axis in atypical proliferation of renal epithelial cells

N. de Paulsen, M.Sc. and S Lee, PhD

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

J. E. DeClue Ph.D. , H. Li Ph.D. , W.C. Vass , and N. Ratner Ph.D.

Molecular analysis of hereditary colorectal cancer: Familial adenomatous polyposis and Turcots sindrome

M. De Rosa Ph.D. , M. I. Scarano Ph.D., M.D. , L. Panariello Ph.D., M.D. , G. Romano M.D. , G. Riegler Ph.D., M.D. , G. B. Rossi M.D. , G. Pettinato Ph.D., M.D. , P. Izzo Ph.D.

Impact of the molecular and clinical screening in Brazilian families with von Hippel-Lindau disease (VHL)

JCC Rocha, MD, AA Camargo, PhD, RLA Silva, PhD, O Caballero, MD PhD , AJG Simpson, PhD

Preventive genetic screening for detection of inherited medullary thyroid carcinoma (MTC): outcome of the five years program

M Wiench, PhD, J Wloch, MD, PhD, Z Wygoda, MD, PhD, E Gubala, PhD, D Lange, MD, PhD, M Oczko, J Roskosz, MD, PhD, A Kukulska, MD, PhD, B Jarzab, MD, PhD

Differential expression of hMLH1 and hMSH2 as a potential prognostic biomarker in bladder cancer

G Xinarianos, PhD , JWF Catto, MBChB , JL Burton, MBChB FC Hamdy, MD , M Meuth, PhD

Establishment of a new criteria for cancer risk assessment in a Brazilian cancer center

SN Silva, MD, MJS Floria, MIW Achatz, MD, BM Rossi, MD PhD, RR Brentani, MD PhD, JCC Rocha, MD

Screening for predisposing mutations in Polish families with Li-Fraumeni/Li-Fraumeni- like syndrome or with breast and ovarian cancer.

L Fiszer-Maliszewska, PhD, M Bebenek, MD, B Gorski, MD, B Kazanowska, MD, G Kurzawski, PhD, A Sikorska, MD, D Sorokin, MD,, B Wojciechowska, MSc,

Chromosomal radiosensitivity in lymphocytes of breast cancer patients with a family history of breast cancer.

A. Baeyens MS , H. Thierens PhD , K. Claes MS , L. Messiaen PhD , L. de Ridder MD, PhD and A. Vral PhD

Detection of oncogenic HPV DNA sequences in sporadic retinoblastoma

MA Palazzi,MD,JA Yunes,PhD,IA Cardarelli,MD,G Stangenhaus,PhD,SR Brandalise,MD,SA Ferreira,JSP Sobrinho, LL Villa,PhD .

Facial resurfacing in xeroderma pigmentosum with chemical peeling

Donghee Kang, MD., Ducksun Ahn, MD, FRCS

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 , DSC Lam .

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

Investigations of hereditary background of breast and ovarian cancer in Polish families of Pomeranian - Kujawski region.

O Haus

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 and T Peretz

Genetic analysis of APC gene in the diagnostics of familial adenomatous polyposis

Sanja Kapitanovic1, Tamara Cacev1, Radan Spaventi1,2 and Kresimir Pavelic1