Ausgabe 1/2017
Inhalt (20 Artikel)
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
Elisabeth Jarhelle, Hilde Monica Frostad Riise Stensland, Lovise Mæhle, Marijke Van Ghelue
Community attitudes towards a Jewish community BRCA1/2 testing program
Nicole Cousens, Rajneesh Kaur, Bettina Meiser, Lesley Andrews
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Joanne Kotsopoulos, Victoria Sopik, Barry Rosen, Isabel Fan, John R. McLaughlin, Harvey Risch, Ping Sun, Steven A. Narod, Mohammad R. Akbari
Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing?
Geneviève Larouche, Jocelyne Chiquette, Sylvie Pelletier, Jacques Simard, Michel Dorval
BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines
Danielle S. Chun, Brygida Berse, Vickie L. Venne, Scott L. DuVall, Kelly K. Filipski, Michael J. Kelley, Laurence J. Meyer, Michael S. Icardi, Julie A. Lynch
Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling
Patrick R. Benusiglio, Marina Di Maria, Leila Dorling, Anne Jouinot, Antoine Poli, Sophie Villebasse, Marine Le Mentec, Béatrice Claret, Diane Boinon, Olivier Caron
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome
H. Ziada-Bouchaar, K. Sifi, T. Filali, T. Hammada, D. Satta, N. Abadi
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P. Kratz
Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression
Verónica Cabreira, Carla Pinto, Manuela Pinheiro, Paula Lopes, Ana Peixoto, Catarina Santos, Isabel Veiga, Patrícia Rocha, Pedro Pinto, Rui Henrique, Manuel R. Teixeira
Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer
Afaf Elsaid, Rami Elshazli, Fatma El-Tarapely, Hossam Darwish, Camelia Abdel-Malak
Pancreas-sparing total duodenectomy for Spigelman stage IV duodenal polyposis associated with familial adenomatous polyposis: experience of 10 cases at a single institution
Yuichiro Watanabe, Hideyuki Ishida, Hiroyuki Baba, Takeo Iwama, Atsushi Kudo, Minoru Tanabe, Hideki Ishikawa
Exploring clinicians’ attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer
Yanni Chen, Michelle Peate, Rajneesh Kaur, Bettina Meiser, Tim Wong, Judy Kirk, Robyn L. Ward, Annabel Goodwin, Finlay Macrae, Janet Hiller, Alison H. Trainer, Gillian Mitchell
Dilemmas in the management of screen-detected lesions in patients at high risk for pancreatic cancer
Isaura S. Ibrahim, Bert A. Bonsing, Rutger-Jan Swijnenburg, Lieke Welling, Roeland A. Veenendaal, Martin N. J. M. Wasser, Hans Morreau, Akin Inderson, Hans F. A. Vasen
Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family
Carolina Arenas Valencia, Martha Lucia Rodríguez López, Andrea Yimena Cardona Barreto, Edgar Garavito Rodríguez, Clara Eugenia Arteaga Díaz
Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers
Karin Eijkelenkamp, Thamara E. Osinga, Mirjam M. de Jong, Wim J. Sluiter, Robin P. F. Dullaart, Thera P. Links, Michiel N. Kerstens, Anouk N. A. van der Horst-Schrivers
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene
Chise Kato, Kentaro Fujii, Yuto Arai, Hiromi Hatsuse, Kazuaki Nagao, Yoshinaga Takayama, Kouzou Kameyama, Katsunori Fujii, Toshiyuki Miyashita
Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance
Ingrid C.A.W. Konings, Femme Harinck, Marianne A. Kuenen, Grace N. Sidharta, Jacobien M. Kieffer, Cora M. Aalfs, Jan-Werner Poley, Ellen M.A. Smets, Anja Wagner, Anja van Rens, Frank P. Vleggaar, Margreet G.E.M. Ausems, Paul Fockens, Jeanin E. van Hooft, Marco J. Bruno, Eveline M.A. Bleiker
Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases
Walid Sabri Hamadou, Sawsen Besbes, Violaine Bourdon, Yosra Ben Youssef, Mohamed Adnène Laatiri, Testsuro Noguchi, Abderrahim Khélif, Hagay Sobol, Zohra Soua
Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program
David J. Hermel, Wendy C. McKinnon, Marie E. Wood, Marc S. Greenblatt