Issue 2/2019
Content (20 Articles)
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk
Rajneesh Kaur, Bettina Meiser, Tatiane Yanes, Mary-Anne Young, Kristine Barlow-Stewart, Tony Roscioli, Sian Smith, Paul A. James
Electronically ascertained extended pedigrees in breast cancer genetic counseling
V. Stefansdottir, H. Skirton, O. Th. Johannsson, H. Olafsdottir, G. H. Olafsdottir, L. Tryggvadottir, J. J. Jonsson
Ovarian small cell carcinoma in one of a pair of monozygous twins
Somayyeh Fahiminiya, Nelly Sabbaghian, Steffen Albrecht, Javad Nadaf, Donato Callegaro-Filho, William D. Foulkes
Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation
Maurizio Ponz de Leon, Monica Pedroni, Alessandra Viel, Claudio Luppi, Rita Conigliaro, Federica Domati, Giuseppina Rossi, Luca Reggiani Bonetti
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma
P. Vande Perre, A. Siegfried, C. Corsini, D. Bonnet, C. Toulas, N. Hamzaoui, J. Selves, E. Chipoulet, J. S. Hoffmann, E. Uro-Coste, R. Guimbaud
NTHL1-associate polyposis: first Australian case report
Alexandra Groves, Margaret Gleeson, Allan D. Spigelman
Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition
Lars J. Lindberg, Wia Wegen-Haitsma, Steen Ladelund, Lars Smith-Hansen, Christina Therkildsen, Inge Bernstein, Mef Nilbert
A squamous cell carcinoma in a young woman with Lynch syndrome
F. Adan, M. B. Crijns, E. Dekker, B. A. J. Bastiaansen, O. Lapid, P. Snaebjornsson, E. H. Rosenberg, M. E. van Leerdam, M. W. Bekkenk
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Kelly Fulk, Holly LaDuca, Mary Helen Black, Dajun Qian, Yuan Tian, Amal Yussuf, Carin Espenschied, Kory Jasperson
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis
Erin G. Sutcliffe, Amanda Bartenbaker Thompson, Amy R. Stettner, Megan L. Marshall, Maegan E. Roberts, Lisa R. Susswein, Ying Wang, Rachel T. Klein, Kathleen S. Hruska, Benjamin D. Solomon
Recent advances in Lynch syndrome
Leah H. Biller, Sapna Syngal, Matthew B. Yurgelun
Interest in, willingness-to-pay for and willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy
Marcel Mayer, Katharina Selig, Frank Tüttelmann, Andreas Dinkel, Jürgen E. Gschwend, Kathleen Herkommer
Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
J. J. Bakhuizen, M. E. Velthuizen, S. Stehouwer, E. M. Bleiker, M. G. Ausems
Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma
Evan J. Walker, Julia Carnevale, Christina Pedley, Amie Blanco, Salina Chan, Eric A. Collisson, Margaret A. Tempero, Andrew H. Ko
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature
Florian Obermair, Melanie Rammer, Jonathan Burghofer, Theodora Malli, Anna Schossig, Katharina Wimmer, Wolfgang Kranewitter, Beate Mayrbaeurl, Hans-Christoph Duba, Gerald Webersinke
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome
Shahid Mahmood Baig, Ambrin Fatima, Muhammad Tariq, Tahir Naeem Khan, Zafar Ali, Mohammad Faheem, Humera Mahmood, Patrick Killela, Matthew Waitkus, Yiping He, Fangping Zhao, Sizhen Wang, Yuchen Jiao, Hai Yan
Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013–2018)
Mijke Visser, Nienke van der Stoep, Nelleke Gruis
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
J. J. Bakhuizen, F. B. Hogervorst, M. E. Velthuizen, M. W. Ruijs, K. van Engelen, T. A. van Os, J. J. Gille, M. Collée, A. M. van den Ouweland, C. J. van Asperen, C. M. Kets, A. R. Mensenkamp, E. M. Leter, M. J. Blok, M. M. de Jong, M. G. Ausems
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
Janet R. Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Marleen Kets, Rolf Sijmons, Gareth Evans, Emma Woodward, Marc Tischkowitz, Eamonn Maher, Verena Steinke-Lange, Elke Holinski-Feder, Thierry Frebourg, Claude Houdayer, Rosalie E. Ferner, Jan Lubinski, Karolina Ertmanska, Svetlana Bajalica Lagercrantz, Emma Tham, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Vincent Bours, Eric Legius, Pierre Wolkenstein, Bela Melegh, Carla Oliveira, Manuel Teixeira, Bruce Poppe, Kathleen Claes, Hector Salvador Hernandez, Stefan Aretz, Isabel Spier, Rianne Oostenbrink, Mateja Krajc, Ana Blatnik, Evelin Schröck, Sirkku Peltonen, Marja Hietala, Chrystelle Colas
Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach
Kelly Reumkens, Christine E. M. de Die-Smulders, Liesbeth A. D. M. van Osch