Issue 2/2015
Content (17 Articles)
Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis
Fábio Guilherme Campos, Carlos Augusto Real Martinez, Marleny Novaes, Sérgio Carlos Nahas, Ivan Cecconello
Comparison of proctocolectomy and ileal pouch-anal anastomosis to colectomy and ileorectal anastomosis in familial adenomatous polyposis
L. Koskenvuo, H. Mustonen, L. Renkonen-Sinisalo, H. J. Järvinen, A. Lepistö
A risk of digestive tract neoplasms susceptibility in miR-146a and miR-196a2
Mingkun Xie, Yating Li, Jing Wu, Jin Wu
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer
Iikki Donner, Tuula Kiviluoto, Ari Ristimäki, Lauri A. Aaltonen, Pia Vahteristo
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
Astrid A. Out, Ivonne J. H. M. van Minderhout, Nienke van der Stoep, Lysette S. R. van Bommel, Irma Kluijt, Cora Aalfs, Marsha Voorendt, Rolf H. A. M. Vossen, Maartje Nielsen, Hans F. A. Vasen, Hans Morreau, Peter Devilee, Carli M. J. Tops, Frederik J. Hes
Defective DNA mismatch repair activity is common in sebaceous neoplasms, and may be an ineffective approach to screen for Lynch syndrome
Anu R. Lamba, Angela Y. Moore, Todd Moore, Jennifer Rhees, Mildred A. Arnold, C. Richard Boland
Health professionals’ evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer
Kirsten F. L. Douma, Bettina Meiser, Judy Kirk, Gillian Mitchell, Christobel Saunders, Belinda Rahman, Mariana S. Sousa, Kristine Barlow-Stewart, Margaret Gleeson, Kathy Tucker
Impact of BRCA1/2 mutation on young women’s 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort)
Julien Mancini, Emmanuelle Mouret-Fourme, Catherine Noguès, Claire Julian-Reynier
The effect of oral 3,3′-diindolylmethane supplementation on the 2:16α-OHE ratio in BRCA1 mutation carriers
Dina Nikitina, Marcia Llacuachaqui, Daniel Sepkovic, H. Leon Bradlow, Steven A. Narod, Joanne Kotsopoulos
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features
Paul A. James, Sarah Sawyer, Samantha Boyle, Mary-Anne Young, Serguei Kovalenko, Rebecca Doherty, Joanne McKinley, Kathryn Alsop, Victoria Beshay, Marion Harris, Stephen Fox, Geoffrey J. Lindeman, Gillian Mitchell
Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers
Chongjuan Wei, Bo Peng, Younghun Han, Wei V. Chen, Joshua Rother, Gail E. Tomlinson, C. Richard Boland, Marc Chaussabel, Marsha L. Frazier, Christopher I. Amos
Erratum to: Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers
Chongjuan Wei, Bo Peng, Younghun Han, Wei V. Chen, Joshua Rother, Gail E. Tomlinson, C. Richard Boland, Damien Chaussabel, Marsha L. Frazier, Christopher I. Amos
First-Line sunitinib in patients with renal cell carcinoma (RCC) in von Hippel–Lindau (VHL) disease: clinical outcome and patterns of radiological response
Anna Roma, Marco Maruzzo, Umberto Basso, Antonella Brunello, Rita Zamarchi, Elisabetta Bezzon, Fabio Pomerri, Stefania Zovato, Giuseppe Opocher, Vittorina Zagonel
Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative
Qian Liu, Nancy Zoellner, David H. Gutmann, Kimberly J. Johnson
The roles of AXIN2 in tumorigenesis and epigenetic regulation
Shuang Li, Chunpeng Wang, Xiaodong Liu, Shucheng Hua, Xin Liu
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers
Mariana Fitarelli-Kiehl, Juliana Giacomazzi, Patricia Santos-Silva, Marcia Silveira Graudenz, Edenir Inez Palmero, Rodrigo Augusto Depieri Michelli, Maria Isabel Achatz, Cynthia Aparecida Bueno de Toledo Osório, Victor Evangelista de Faria Ferraz, Clarissa Gondim Picanço, Patricia Ashton-Prolla
Germline RAD51B truncating mutation in a family with cutaneous melanoma
Karin A. W. Wadt, Lauren G. Aoude, Lisa Golmard, Thomas V. O. Hansen, Xavier Sastre-Garau, Nicholas K. Hayward, Anne-Marie Gerdes