Ausgabe 1/2018
Inhalt (16 Artikel)
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M. Okamoto, Geraldine McDowell, Melissa A. Hayden, Narasimhan Nagan
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven, Sven Gläsker
BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland
Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A. Narod, Jacek Gronwald
CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F. Schaeffer, Daniel Renouf, Kasmintan A. Schrader
Challenges in recruiting African-American women for a breast cancer genetics study
Amanda J. Compadre, Melinda E. Simonson, Katy Gray, Gail Runnells, Susan Kadlubar, Kristin K. Zorn
Platinum-based neoadjuvant chemotherapy in BRCA1-positive breast cancer: a retrospective cohort analysis and literature review
Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne, Janis Gardovskis
Retraction Note to: The BRCA2 variant c.68–7 T > A is associated with breast cancer
Pål Møller, Eivind Hovig
Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews
Jennifer L. Schneider, Katrina A. B. Goddard, Kristin R. Muessig, James V. Davis, Alan F. Rope, Jessica E. Hunter, Susan K. Peterson, Louise S. Acheson, Sapna Syngal, Georgia L. Wiesner, Jacob A. Reiss
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
J. Maksimenko, A. Irmejs, G. Trofimovičs, D. Bērziņa, E. Skuja, G. Purkalne, E. Miklaševičs, J. Gardovskis
A qualitative study of barriers to genetic counseling and potential for mobile technology education among women with ovarian cancer
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A. Geller
CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis
Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G. Pockney, Rodney J. Scott, Bente A. Talseth-Palmer
Polyglobulia in patients with hemangioblastomas is related to tumor size but not to serum erythropoietin
Marie T. Krüger, Jan-Helge Klingler, Cordula Jilg, Christine Steiert, Stefan Zschiedrich, Vera Van Velthoven, Sven Gläsker
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom, Emma Tham
German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program
Frederike S. Franke, Elvira Matthäi, Emily P. Slater, Christoph Schicker, Johannes Kruse, Detlef K. Bartsch