Ausgabe 2/2017
Inhalt (20 Artikel)
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer
Estelle Jamard, Bertrand Volard, Audrey Emmanuelle Dugué, Angelina Legros, Alexandra Leconte, Bénédicte Clarisse, Grégoire Davy, Florence Polycarpe, Catherine Dugast, Caroline Abadie, Thierry Frebourg, Julie Tinat, Isabelle Tennevet, Valérie Layet, Florence Joly, Laurent Castéra, Pascaline Berthet, Dominique Vaur, Sophie Krieger
Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores
D. G. Evans, E. R. Woodward, S. J. Howell, S. Verhoef, A. Howell, F. Lalloo
Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe
Natalia Bogdanova, Katja Pfeifer, Peter Schürmann, Natalia Antonenkova, Wulf Siggelkow, Hans Christiansen, Peter Hillemanns, Tjoung-Won Park-Simon, Thilo Dörk
Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer
Martin P. Nilsson, Christof Winter, Ulf Kristoffersson, Martin Rehn, Christer Larsson, Lao H. Saal, Niklas Loman
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Pain evaluation during gynaecological surveillance in women with Lynch syndrome
Jorien Helder-Woolderink, Geertruida de Bock, Harry Hollema, Magda van Oven, Marian Mourits
Attenuated polyposis of the large bowel: a morphologic and molecular approach
Maurizio Ponz de Leon, Monica Pedroni, Luca Roncucci, Federica Domati, Giuseppina Rossi, Giulia Magnani, Annalisa Pezzi, Rossella Fante, Luca Reggiani Bonetti
Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome
Eva Wielders, Elly Delzenne-Goette, Rob Dekker, Martin van der Valk, Hein te Riele
Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency
Lior H. Katz, Shailesh Advani, Allison M. Burton-Chase, Bryan Fellman, Katrina M. Polivka, Ying Yuan, Patrick M. Lynch, Susan K. Peterson
Colonoscopy in Lynch syndrome: the need for a new quality score
Jurjen J. Boonstra, Wouter H. de Vos tot Nederveen Cappel, Alexandra M. J. Langers, Hedwig van der Sluis, James H. Hardwick, Hans F. A. Vasen
TP53 and CDKN1A mutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes
Raissa Coelho Andrade, Anna Claudia Evangelista dos Santos, Joaquim Caetano de Aguirre Neto, Julián Nevado, Pablo Lapunzina, Fernando Regla Vargas
Cystic parathyroid glands in MEN1: A rare entity?
Tiziana Cavalli, Francesco Giudici, Gabriella Nesi, Andrea Amorosi, Raffaella Santi, Maria Luisa Brandi, Francesco Tonelli
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
Trine Levin, Lovise Mæhle
A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro)
Rita Vale Rodrigues, Filipa Santos, João Pereira da Silva, Inês Francisco, Isabel Claro, Cristina Albuquerque, Maria Manuel Lemos, Manuel Limbert, António Dias Pereira
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Charlotte J. Dommering, Lidewij Henneman, Annemarie H. van der Hout, Marianne A. Jonker, Carli M. J. Tops, Ans M. W. van den Ouweland, Rob B. van der Luijt, Arjen R. Mensenkamp, Frans B. L. Hogervorst, Egbert J. W. Redeker, Christine E. M. de Die-Smulders, Annette C. Moll, Hanne Meijers-Heijboer
Four generations of SDHB-related disease: complexities in management
U. Srirangalingam, M. LeCain, N. Tufton, S. A. Akker, W. M. Drake, K. Metcalfe
All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients
Kristin L. Long, Carol Etzel, Thereasa Rich, Samuel Hyde, Nancy D. Perrier, Paul H. Graham, Jeffrey E. Lee, Mimi I. Hu, Gilbert J. Cote, Robert Gagel, Elizabeth G. Grubbs
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations
Eduardo J. Bardón-Cancho, Ana Haro-Díaz, Francisco J. Alonso-García-de la Rosa, Jorge Huerta-Aragonés, Marina García-Morín, Felipe González-Martínez, Carmen Garrido-Colino
Recurrent TP53 missense mutation in cancer patients of Arab descent
Aviad Zick, Luna Kadouri, Sherri Cohen, Michael Frohlinger, Tamar Hamburger, Naama Zvi, Morasha Plaser, Eilat Avital, Shani Breuier, Firase Elian, Azzam Salah, Yael Goldberg, Tamar Peretz
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P. Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog