Ausgabe 4/2022
Inhalt (12 Artikel)
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Henrikke N. Hovland, Rafal Al-Adhami, Sarah Louise Ariansen, Marijke Van Ghelue, Wenche Sjursen, Sigrid Lima, Marte Bolstad, Amund H. Berger, Hildegunn Høberg-Vetti, Per Knappskog, Bjørn Ivar Haukanes, Ingvild Aukrust, Elisabet Ognedal
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
James M. Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E. Joo, Susan Preston, Ryan A. Hutchinson, Bernard J. Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A. Jenkins, Finlay A. Macrae, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
Amanda Bartenbaker Thompson, Erin G. Sutcliffe, Kevin Arvai, Maegan E. Roberts, Lisa R. Susswein, Megan L. Marshall, Rebecca Torene, Kristen J. Vogel Postula, Kathleen S. Hruska, Shaochun Bai
Detecting inversions in routine molecular diagnosis in MMR genes
Edwige Kasper, Sophie Coutant, Sandrine Manase, Stéphanie Vasseur, Pierre Macquère, Gaëlle Bougeard, Laurence Faivre, Olivier Ingster, Stéphanie Baert-Desurmont, Claude Houdayer
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis
Arthur S. Aelvoet, Daphne Struik, Barbara A. J. Bastiaansen, Willem A. Bemelman, Roel Hompes, Patrick M. M. Bossuyt, Evelien Dekker
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
Andrea Mafficini, Lodewijk A. A. Brosens, Maria L. Piredda, Cristian Conti, Paola Mattiolo, Giulia Turri, Maria G. Mastrosimini, Sara Cingarlini, Stefano F. Crinò, Matteo Fassan, Paola Piccoli, Michele Simbolo, Alessia Nottegar, Rita T. Lawlor, Alfredo Guglielmi, Aldo Scarpa, Corrado Pedrazzani, Claudio Luchini
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review
S. H. Beck, A. M. Jelsig, H. M. Yassin, L. J. Lindberg, K. A. W. Wadt, J. G. Karstensen
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study
Teresa M. Neuhann, Katharina Haub, Verena Steinke-Lange, Monika Morak, Andreas Laner, Melanie Locher, Elke Holinski-Feder
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?
Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece
Elena Fountzilas, Paraskevi Apostolou, Angelo V. Vasiliadis, Dimitra Aivazi, Emmanouil Saloustros, Florentia Fostira