Ausgabe 4/2010
Inhalt (33 Artikel)
BRCA1 and BRCA2 families and the risk of skin cancer
Ophira M. Ginsburg, Charmaine Kim-Sing, William D. Foulkes, Parviz Ghadirian, Henry T. Lynch, Ping Sun, Steven A. Narod
Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
Noralane M. Lindor, Kiley J. Johnson, Hayden Harvey, V. Shane Pankratz, Susan M. Domchek, Katherine Hunt, Marcia Wilson, M. Cathie Smith, Fergus Couch
Breast cancer susceptibility variants alter risk in familial ovarian cancer
A. Latif, H. J. McBurney, S. A. Roberts, F. Lalloo, A. Howell, D. G. Evans, W. G. Newman
Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer
Luca Cavallone, Suzanna L. Arcand, Christine M. Maugard, Serge Nolet, Louis A. Gaboury, Anne-Marie Mes-Masson, Parviz Ghadirian, Diane Provencher, Patricia N. Tonin
Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population
Lucian Negura, Nancy Uhrhammer, Anca Negura, Vlad Artenie, Eugen Carasevici, Yves-Jean Bignon
Can a phenotype for recessive inheritance in breast cancer be defined?
Carolina Ellberg, Göran Jönsson, Håkan Olsson
PALB2: a novel inactivating mutation in a Italian breast cancer family
Cristina Balia, Elisa Sensi, Grazia Lombardi, Manuela Roncella, Generoso Bevilacqua, Maria Adelaide Caligo
Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families
Szilvia Solyom, Katri Pylkäs, Robert Winqvist
BRCA1 mutations and colorectal cancer in Poland
Janina Suchy, Cezary Cybulski, Bohdan Górski, Tomasz Huzarski, Tomasz Byrski, Tadeusz Dębniak, Jacek Gronwald, Anna Jakubowska, Dominika Wokołorczyk, Grzegorz Kurzawski, Józef Kładny, Arkadiusz Jawień, Zbigniew Banaszkiewicz, Rafał Wiśniowski, Piotr Wandzel, Jacek Starzewski, Zbigniew Lorenc, Elżbieta Korobowicz, Piotr Krokowicz, Karolina Horbacka, Jan Lubiński, Steven A. Narod
The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers
Ana Cristina Vargas, Leonard Da Silva, Sunil R. Lakhani
Magnetic resonance colonography for colorectal cancer screening in patients with Lynch syndrome gene mutation
Eu Jin Lim, Christopher Leung, Alex Pitman, Damien L. Stella, Gregor Brown, Masha Slattery, Kaye Marion, Finlay Macrae
Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry
Felipe Carneiro da Silva, Ligia Petrolini de Oliveira, Érika Monteiro Santos, Wilson Toshihiko Nakagawa, Samuel Aguiar Junior, Mev Dominguez Valentin, Benedito Mauro Rossi, Fábio de Oliveira Ferreira
Selective COX-2 inhibition affects fatty acids, but not COX mRNA expression in patients with FAP
Kari Almendingen, Laila N. Larsen, Olav Fausa, Jorunn Bratlie, Arne T. Høstmark, Lars Aabakken
FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review
Henry T. Lynch, Carrie Snyder, Janine M. Davies, Stephen Lanspa, Jane Lynch, Zoran Gatalica, Victoria Graeve, Jason Foster
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions
Jérémie H. Lefevre, Chrystelle Colas, Florence Coulet, Carolina Bonilla, Najat Mourra, Jean-Francois Flejou, Emmanuel Tiret, Walter Bodmer, Florent Soubrier, Yann Parc
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP)
Muhammad Ali Pervaiz, Amanda Eppolito, Karen Schmidt
A functional varient in microRNA-146a is associated with risk of esophageal squamous cell carcinoma in Chinese Han
Hong Guo, Kai Wang, Gang Xiong, Huamei Hu, Dongmei Wang, Xueqing Xu, Xingying Guan, Kang Yang, Yun Bai
CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland
Anna Jakubowska, Małgorzata Ławniczak, Beata Wojnarska, Cezary Cybulski, Tomasz Huzarski, Tomasz Byrski, Aleksandra Tołoczko-Grabarek, Katarzyna Jaworska, Katarzyna Durda, Teresa Starzyńska, Jan Lubiński
Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality
Y. Nancy You, Bruce G. Wolff, Lisa A. Boardman, Douglas L. Riegert-Johnson, Rui Qin
Pancreatic cancer risk counselling and screening: impact on perceived risk and psychological functioning
Christine Maheu, Andrea Vodermaier, Heidi Rothenmund, Steve Gallinger, Paola Ardiles, Kara Semotiuk, Spring Holter, Saumea Thayalan, Mary Jane Esplen
Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations
Xiaohong Rose Yang, Xueying Liang, Ruth M. Pfeiffer, William Wheeler, Dennis Maeder, Laurie Burdette, Meredith Yeager, Stephen Chanock, Margaret A. Tucker, Alisa M. Goldstein
Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation
Israel Gomy, Greice Andreotti Molfetta, Ester de Andrade Barreto, Cristiane Ayres Ferreira, Dalila Luciola Zanette, José Cláudio Casali-da-Rocha, Wilson Araujo Silva Jr.
A novel mutation of the Succinate Dehydrogenase B Gene in a Korean Family with Pheochromocytoma
Sang Ah Lee, Eun Hee Kim, Yu Mi Lee, Woochang Lee, Won Ki Min, Young-Joo Lee, Joo Ryung Huh, Woo Je Lee
Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits
C. R. M. Lammens, E. M. A. Bleiker, N. K. Aaronson, A. Wagner, R. H. Sijmons, M. G. E. M. Ausems, A. H. J. T. Vriends, M. W. G. Ruijs, T. A. M. van Os, L. Spruijt, E. B. Gómez García, A. Cats, T. Nagtegaal, S. Verhoef
Thymoma associated with malignancies may herald a hereditary cancer syndrome
Omid Saeed Tehrani, Emily Q. Chen, David L. Schaebler, Abdul W. Mughal
Similarities in solar ultraviolet irradiance and other environmental factors may explain much of the family link between uveal melanoma and other cancers
William B. Grant, Johan E. Moan, Emanuela Micu, Alina C. Porojnicu, Asta Juzeniene
Contribution of CDKN2A/P16 INK4A , P14 ARF , CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma
B. Buecher, M. Gauthier-Villars, L. Desjardins, L. Lumbroso-Le Rouic, C. Levy, A. De Pauw, J. Bombled, C. Tirapo, C. Houdayer, B. Bressac-de Paillerets, D. Stoppa-Lyonnet
Disclosing cancer genetic information within families: perspectives of counselees and their at-risk relatives
Afsaneh Hayat Roshanai, Claudia Lampic, Richard Rosenquist, Karin Nordin
Real world experience with cancer genetic counseling via telephone
Rebecca Sutphen, Barbara Davila, Heather Shappell, Tricia Holtje, Susan Vadaparampil, Sue Friedman, Michele Toscano, Joanne Armstrong
Communicating genetic risk information within families: a review
Mel Wiseman, Caroline Dancyger, Susan Michie
Report of the Combined Meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009
Maija Kohonen-Corish, Thomas K. Weber, Annika Lindblom, Finlay Macrae