Ausgabe 1/2007
Inhalt (20 Artikel)
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome
Susan Stuckless, Patrick S. Parfrey, Michael O. Woods, Janet Cox, G. William Fitzgerald, Jane S. Green, Roger C. Green
The management of families affected by hereditary non-polyposis colorectal cancer (HNPCC)
Johanne Geary, Huw J. W. Thomas, James Mackay, Huw Dorkins, Julian Barwell, Shirley V. Hodgson
Molecular diagnosis of neurofibromatosis type 1: 2 years experience
Siân Griffiths, Peter Thompson, Ian Frayling, Meena Upadhyaya
Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden
Zakaria Einbeigi, Annika Bergman, Jeanne M. Meis-Kindblom, Anna Flodin, Cecilia Bjursell, Tommy Martinsson, Lars-Gunnar Kindblom, Jan Wahlström, Arne Wallgren, Margareta Nordling, Per Karlsson
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
Marjo van Puijenbroek, Maartje Nielsen, Tjitske H. C. M. Reinards, Marjan M. Weiss, Anja Wagner, Yvonne M. C. Hendriks, Hans F. A. Vasen, Carli M. J. Tops, Juul Wijnen, Tom van Wezel, Frederik J. Hes, Hans Morreau
Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies
R. C. Green, J. S. Green, S. K. Buehler, J. D. Robb, D. Daftary, S. Gallinger, J. R. McLaughlin, P. S. Parfrey, H. B. Younghusband
Risks of cancer due to a single BRCA1 mutation in an extended Utah kindred
Florian D. Vogl, Mike D. Badzioch, Linda Steele, Susan L. Neuhausen, David E. Goldgar
Identification of a founder BRCA2 mutation in Sardinian breast cancer families
Maria Monne, Giovanna Piras, Patrizia Fancello, Maria Cristina Santona, Antonella Uras, Gennaro Landriscina, Giuseppe Mastio, Attilio Gabbas
Familial colorectal cancer referral to regional genetics department—a single centre experience
Tony Mak, Douglas Speake, Fiona Lalloo, James Hill, D. G. R. Evans
An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients
Catherine F. Li, Robert Y. Wei, Frank Baliko, Bharati Bapat, Benjamin A. Alman
A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy
Francesca Bianchi, Eva Galizia, Emilio Porfiri, Laura Belvederesi, Romina Catalani, Cristian Loretelli, Raffaella Bracci, Italo Bearzi, Chiara Turchi, Alessandra Viel, Riccardo Cellerino
Study comparing two types of screening provision for people with von Hippel-Lindau disease
Lindsay Fraser, Sally Watts, Anna Cargill, Stephen Sutton, Shirley Hodgson
Improved survival in BRCA2 carriers with ovarian cancer
Tuya Pal, Jenny Permuth-Wey, Rachna Kapoor, Alan Cantor, Rebecca Sutphen
The interval between cancer diagnosis among mothers and offspring in a population-based cohort
Ora Paltiel, Yehiel Friedlander, Lisa Deutsch, Rebecca Yanetz, Ronit Calderon-Margalit, Efrat Tiram, Hagit Hochner, Micha Barchana, Susan Harlap, Orly Manor
Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data
D. A. van Dijk, M. J. Oostindiër, W. M. Kloosterman-Boele, P. Krijnen, H. F. A. Vasen
Utility of computed tomographic colonography in surveillance for hereditary nonpolyposis colorectal cancer syndrome
Laura Renkonen-Sinisalo, Arto Kivisaari, Leena Kivisaari, Seppo Sarna, Heikki J. Järvinen
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene
M. Vernez, P. Hutter, C. Monnerat, N. Halkic, O. Gugerli, H. Bouzourene
Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene
W. Stewart, J. P. Traynor, A. Cooke, S. Griffiths, N. F. Őnen, M. Balsitis, A. A. Shah, M. Upadhyaya, E. S. Tobias
Heterozygote BRCA1 status and skewed chromosome X inactivation
Anne Helbling-Leclerc, Gilbert M. Lenoir, Jean Feunteun
Acceptance of preventive surgeries by Israeli women who had undergone BRCA testing
Vardit Kram, Tamar Perez, Michal Sagi