Ausgabe 2/2014
Inhalt (23 Artikel)
Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe
Monika Noskowicz, Natalia Bogdanova, Marina Bermisheva, Zalina Takhirova, Natalia Antonenkova, Elza Khusnutdinova, Michael Bremer, Hans Christiansen, Tjoung-Won Park-Simon, Peter Hillemanns, Thilo Dörk
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
Aisha S. Sie, Wendy A. G. van Zelst-Stams, Liesbeth Spruijt, Arjen R. Mensenkamp, Marjolijn J. L. Ligtenberg, Han G. Brunner, Judith B. Prins, Nicoline Hoogerbrugge
Misperceptions of ovarian cancer risk in women at increased risk for hereditary ovarian cancer
Bettina Meiser, Melanie A. Price, Phyllis N. Butow, Belinda Rahman, Kathy Tucker, Benjamin Cheah, Adrian Bickerstaffe, John Hopper, Kelly-Anne Phillips
Impact of familial risk and mammography screening on prognostic indicators of breast disease among women from the Ontario site of the Breast Cancer Family Registry
Meghan J. Walker, Lucia Mirea, Kristine Cooper, Mitra Nabavi, Gord Glendon, Irene L. Andrulis, Julia A. Knight, Frances P. O’Malley, Anna M. Chiarelli
RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women
Ana M. Krivokuca, Emina J. Malisic, Jelena D. Dobricic, Ksenija V. Brotto, Milena R. Cavic, Radmila N. Jankovic, Zorica I. Tomasevic, Mirjana V. Brankovic-Magic
A randomized controlled trial of diet and physical activity in BRCA mutation carriers
P. Pasanisi, E. Bruno, S. Manoukian, F. Berrino
Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme
D. Gareth R. Evans, Sarah Ingham, Sarah Dawe, L. Roberts, F. Lalloo, A. R. Brentnall, P. Stavrinos, Anthony Howell
Baseline and post prophylactic tubal–ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers
Ying Chen, Elizabeth Bancroft, Sue Ashley, Audrey Arden-Jones, Sarah Thomas, Susan Shanley, Sibel Saya, Emma Wakeling, Rosalind Eeles
Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea
Ja Young Cho, Dae-Yeon Cho, Sei Hyun Ahn, Su-Youn Choi, Inkyung Shin, Hyun Gyu Park, Jong Won Lee, Hee Jeong Kim, Jong Han Yu, Beom Seok Ko, Bo Kyung Ku, Byung Ho Son
Barrett’s esophagus in the patients with familial adenomatous polyposis
Zoran Gatalica, Mingkui Chen, Carrie Snyder, Sumeet Mittal, Henry T. Lynch
Inversion of exons 1–7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population
Jennifer Rhees, Mildred Arnold, C. Richard Boland
Is intraductal tubulopapillary neoplasia a new entity in the spectrum of familial pancreatic cancer syndrome?
Marco Del Chiaro, Raffaella Pozzi Mucelli, John Blomberg, Ralf Segersvärd, Caroline Verbeke
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study
Linda Bardram, Thomas V. O. Hansen, Anne-Marie Gerdes, Susanne Timshel, Lennart Friis-Hansen, Birgitte Federspiel
The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer
M. Casper, M. Acalovschi, F. Lammert, V. Zimmer
Capsule endoscopy versus magnetic resonance enterography for the detection of small bowel polyps in Peutz–Jeghers syndrome
P. Urquhart, F. Grimpen, G. J. Lim, C. Pizzey, D. L. Stella, P. A. Tesar, F. A. Macrae, M. A. Appleyard, G. J. Brown
Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families
Kory W. Jasperson, Wendy Kohlmann, Amanda Gammon, Heidi Slack, Luke Buchmann, Jason Hunt, Anne C. Kirchhoff, Henry Baskin, Akram Shaaban, Joshua D. Schiffman
Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation
Shirin Hasani-Ranjbar, Masoud Rahmanian, Azadeh Ebrahim-Habibi, Akbar Soltani, Akbar Soltanzade, Elnaz Mahrampour, Mahsa M. Amoli
Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression
Maria Chiara Zatelli, Federico Tagliati, Mauro Di Ruvo, Emilie Castermans, Luigi Cavazzini, Adrian F. Daly, Maria Rosaria Ambrosio, Albert Beckers, Ettore degli Uberti
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)
Mei Hua Wong, Chuen Seng Tan, Soo Chin Lee, Yvonne Yong, Aik Seng Ooi, Joanne Ngeow, Min Han Tan
Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes
Thereasa A. Rich, Mei Liu, Carol J. Etzel, Sarah A. Bannon, Maureen E. Mork, Kaylene Ready, Devki S. Saraiya, Elizabeth G. Grubbs, Nancy D. Perrier, Karen H. Lu, Banu K. Arun, Terri L. Woodard, Leslie R. Schover, Jennifer K. Litton
Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain)
Dolores Cuevas-Cuerda, Dolores Salas-Trejo
Attitudes and knowledge of medical practitioners to hereditary cancer clinics and cancer genetic testing
Ian Teng, Allan Spigelman
Providing patient education: impact on quantity and quality of family health history collection
Chris A. Beadles, R. Ryanne Wu, Tiffany Himmel, Adam H. Buchanan, Karen P. Powell, Elizabeth Hauser, Vincent C. Henrich, Geoffrey S. Ginsburg, Lori A. Orlando