Ausgabe 3/2018
Inhalt (20 Artikel)
Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations
Jacopo Azzollini, Milena Mariani, Bernard Peissel, Siranoush Manoukian
Family history influences the tumor characteristics and prognosis of breast cancers developing during postmenopausal hormone therapy
Rainer Fagerholm, Maria Faltinova, Kirsi Aaltonen, Kristiina Aittomäki, Päivi Heikkilä, Mervi Halttunen-Nieminen, Heli Nevanlinna, Carl Blomqvist
Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations
Stephanie Kearton, Karen Wills, Michael Bunting, Penny Blomfield, Paul A. James, Jo Burke
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
Aleksander Myszka, Tu Nguyen-Dumont, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey
Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population
Suzanne C. O’Neill, Chalanda Evans, Rebekah J. Hamilton, Beth N. Peshkin, Claudine Isaacs, Sue Friedman, Kenneth P. Tercyak
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
A. Goverde, M. C. W. Spaander, D. Nieboer, A. M. W. van den Ouweland, W. N. M. Dinjens, H. J. Dubbink, C. J. Tops, S. W. ten Broeke, M. J. Bruno, R. M. W. Hofstra, E. W. Steyerberg, A. Wagner
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer
F. G. J. Kallenberg, C. M. Aalfs, F. O. The, C. A. Wientjes, A. C. Depla, M. W. Mundt, P. M. M. Bossuyt, E. Dekker
Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome
Jesse P. Wright, Kathleen W. Montgomery, Joshua Tierney, Jill Gilbert, Carmen C. Solórzano, Kamran Idrees
Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing
Barbara Luísa Soares, Ayslan Castro Brant, Renan Gomes, Tatiane Pastor, Naye Balzan Schneider, Ândrea Ribeiro-dos-Santos, Paulo Pimentel de Assumpção, Maria Isabel W. Achatz, Patrícia Ashton-Prolla, Miguel Angelo Martins Moreira
Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort
María Laura González, Natalia Causada-Calo, Juan Pablo Santino, Mev Dominguez-Valentin, Fabiana Alejandra Ferro, Inés Sammartino, Pablo Germán Kalfayan, Maria Alicia Verzura, Tamara Alejandra Piñero, Andrea Romina Cajal, Walter Pavicic, Carlos Vaccaro
Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge
Henry T. Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson
Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer
Stijn Crobach, Anne M. L. Jansen, Marjolein J. L. Ligtenberg, Marije Koopmans, Maartje Nielsen, Frederik J. Hes, Juul T. Wijnen, Winand N. M. Dinjens, Tom van Wezel, Hans Morreau
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Germline mutations in lung cancer and personalized medicine
Francesco Cetta, Alessandra Renieri, Elisa Frullanti
Penetrance of a rare familial mutation predisposing to papillary thyroid cancer
Donika Saporito, Pamela Brock, Heather Hampel, Jennifer Sipos, Soledad Fernandez, Sandya Liyanarachchi, Albert de la Chapelle, Rebecca Nagy
Germline variant in MSX1 identified in a Dutch family with clustering of Barrett’s esophagus and esophageal adenocarcinoma
A. M. J. van Nistelrooij, R. van Marion, W. F. J. van Ijcken, A. de Klein, A. Wagner, K. Biermann, M. C. W. Spaander, J. J. B. van Lanschot, W. N. M. Dinjens, B. P. L. Wijnhoven
Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
Nilesh Lomte, Sanjeet Kumar, Vijaya Sarathi, Reshma Pandit, Manjunath Goroshi, Swati Jadhav, Anurag R. Lila, Tushar Bandgar, Nalini S. Shah
Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics
Gaëlle Collet, Nathalie Parodi, Kevin Cassinari, Zoe Neviere, Fanny Cohen, Céline Gasnier, Afane Brahimi, François Lecoquierre, Jean-Christophe Thery, Isabelle Tennevet, Elodie Lacaze, Pascaline Berthet, Thierry Frebourg
Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis
Xia Hao, Lingzi Xia, Ruoyi Qu, Xianglin Yang, Min Jiang, Baosen Zhou
Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries
Anne Brédart, Jean‑Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa‑Lyonnet, Rita Schmutlzer