Ausgabe 4/2018
Inhalt (20 Artikel)
Mutations in context: implications of BRCA testing in diverse populations
Gabriela E. S. Felix, Yonglan Zheng, Olufunmilayo I. Olopade
Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery
Rachel Shapira, Erin Turbitt, Lori H. Erby, Barbara B. Biesecker, William M. P. Klein, Gillian W. Hooker
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk
Allison H. West, Kathleen R. Blazer, Jessica Stoll, Matthew Jones, Caroline M. Weipert, Sarah M. Nielsen, Sonia S. Kupfer, Jeffrey N. Weitzel, Olufunmilayo I. Olopade
SNP association study in PMS2-associated Lynch syndrome
Sanne W. ten Broeke, Fadwa A. Elsayed, Lisa Pagan, Maran J. W. Olderode-Berends, Encarna Gomez Garcia, Hans J. P. Gille, Liselot P. van Hest, Tom G. W. Letteboer, Lizet E. van der Kolk, Arjen R. Mensenkamp, Theo A. van Os, Liesbeth Spruijt, Bert J. W. Redeker, Manon Suerink, Yvonne J. Vos, Anja Wagner, Juul T. Wijnen, E. W. Steyerberg, Carli M. J. Tops, Tom van Wezel, Maartje Nielsen
Feasibility of endoscopic resection using bipolar snare for nonampullary duodenal tumours in familial adenomatous polyposis patients
Kazuya Inoki, Takeshi Nakajima, Satoru Nonaka, Seiichiro Abe, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Masayoshi Yamada, Mizuki Takatsu, Hiroshi Yoshida, Hirokazu Taniguchi, Shigeki Sekine, Yuichiro Ohe, Yutaka Saito
Urological sequelae of desmoids associated with familial adenomatous polyposis
S. J. Walton, G. Malietzis, S. K. Clark, E. Havranek
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation
Jenny von Salomé, Tao Liu, Markku Keihäs, Moni Morak, Elke Holinski-Feder, Ian R. Berry, Jukka S. Moilanen, Stéphanie Baert-Desurmont, Annika Lindblom, Kristina Lagerstedt-Robinson
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E. Steigen, Eli Marie Grindedal
Response to letter to editor regarding published article—metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis
Mark P. Lythgoe, Salim S. Malik, Mark McPhail, Kevin J. Monahan
Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline
Anaita Kanga-Parabia, Clara Gaff, Louisa Flander, Mark Jenkins, Louise A. Keogh
Metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis
Salim S. Malik, Mark P. Lythgoe, Mark McPhail, Kevin J. Monahan
Commentary: PREMM5 threshold of 2.5% is recommended to improve identification of PMS2 carriers
Fay Kastrinos, Hajime Uno, Sapna Syngal
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma
Marieke Hylebos, Ken Op de Beeck, Jenneke van den Ende, Patrick Pauwels, Martin Lammens, Jan P. van Meerbeeck, Guy Van Camp
Correlation of IL-31 gene polymorphisms with susceptibility and clinical recurrence of bladder cancer
Qin Li, Tielong Tang, Peng Zhang, Chenlu Liu, Yan Pu, Yan Zhang, Huizi Song, Yanyun Wang, Yaping Song, Min Su, Bin Zhou, Lin Zhang
Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation
Carolina Arenas Valencia, Liliana Lopez Kleine, Andres M. Pinzon Velasco, Andrea Y. Cardona Barreto, Clara E. Arteaga Diaz
Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same
A. J. Huq, M. Walsh, B. Rajagopalan, M. Finlay, A. H. Trainer, F. Bonnet, N. Sevenet, I. M. Winship
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome
Shelley Macaulay, Quintin Clive Goodyear, Mia Kruger, Wenlong Chen, Fahmida Essop, Amanda Krause
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)
Priya T. Bhola, Cathy Gilpin, Amanda Smith, Gail E. Graham
Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience
Eliza Courtney, Xin Wei Chin, Jeanette Yuen, Shao-Tzu Li, Yanni Chen, John Carson Allen Jr., Veronique Tan, Geok Hoon Lim, Joanne Ngeow