Ausgabe 2/2016
Inhalt (25 Artikel)
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety
Erica Sermijn, Liesbeth Delesie, Ellen Deschepper, Ingrid Pauwels, Maryse Bonduelle, Erik Teugels, Jacques De Grève
Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study
J. E. Baars, A. M. van Dulmen, M. E. Velthuizen, E. B. M. Theunissen, B. C. Vrouenraets, A. N. Kimmings, T. van Dalen, B. van Ooijen, A. J. Witkamp, M. A. van der Aa, M. G. E. M. Ausems
Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis
Eneida Santos de Oliveira, Bárbara Luisa Soares, Sara Lemos, Reginaldo Cruz Alves Rosa, Angélica Nogueira Rodrigues, Leandro Augusto Barbosa, Débora de Oliveira Lopes, Luciana Lara dos Santos
Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer
Nikoleta Poumpouridou, Nikolaos Goutas, Christina Tsionou, Kleanthi Dimas, Evi Lianidou, Christos Kroupis
Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer
Rosa Murria Estal, Sarai Palanca Suela, Inmaculada de Juan Jiménez, Cristina Alenda Gonzalez, Cecilia Egoavil Rojas, Zaida García-Casado, Jose Antonio López Guerrero, María José Juan Fita, Ana Beatriz Sánchez Heras, Ángel Segura Huerta, Ana Santaballa Bertrán, Isabel Chirivella González, Marta Llop García, Gema Pérez Simó, Eva Barragán González, Pascual Bolufer Gilabert
CYP1A1 and GSTP1 gene variations in breast cancer: a systematic review and case–control study
Sumaira Akhtar, Ishrat Mahjabeen, Zertashia Akram, Mahmood Akhtar Kayani
CDH1 germline mutations and hereditary lobular breast cancer
Giovanni Corso, Mattia Intra, Chiara Trentin, Paolo Veronesi, Viviana Galimberti
Diagnostic values of osteopontin combined with CA125 for ovarian cancer: a meta-analysis
Zhu Lan, Dan Fu, Xiuzhang Yu, Mingrong Xi
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer
Kirsten F. L. Douma, Evelien Dekker, Ellen M. A. Smets, Cora M. Aalfs
Determining the familial risk distribution of colorectal cancer: a data mining approach
Rowena Chau, Mark A. Jenkins, Daniel D. Buchanan, Driss Ait Ouakrim, Graham G. Giles, Graham Casey, Steven Gallinger, Robert W. Haile, Loic Le Marchand, Polly A. Newcomb, Noralane M. Lindor, John L. Hopper, Aung Ko Win
Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis
Sigurdis Haraldsdottir, Rachel Roth, Rachel Pearlman, Heather Hampel, Christina A. Arnold, Wendy L. Frankel
Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients
Keiko Taki, Yuri Sato, Sachio Nomura, Yuumi Ashihara, Mizuho Kita, Ikufumi Tajima, Kokichi Sugano, Masami Arai
Risk of thyroid cancer among Caribbean Hispanic patients with familial adenomatous polyposis
Nicolás Casellas-Cabrera, Yaritza Díaz-Algorri, Víctor J. Carlo-Chévere, María González-Pons, Natalia Rodríguez-Mañón, Julyann Pérez-Mayoral, Carlos Bertrán-Rodríguez, Marievelisse Soto-Salgado, Francis M. Giardiello, Segundo Rodríguez-Quilichini, Marcia Cruz-Correa
Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome
Trilokesh D. Kidambi, Amie Blanco, Jessica Van Ziffle, Jonathan P. Terdiman
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
Isabel Spier, Martin Kerick, Dmitriy Drichel, Sukanya Horpaopan, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Ronja Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Elke Holinski-Feder, Sven Perner, Holger Thiele, Markus M. Nöthen, Per Hoffmann, Bernd Timmermann, Michal R. Schweiger, Stefan Aretz
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Ingrid P. Vogelaar, Marjolijn J. L. Ligtenberg, Rachel S. van der Post, Richarda M. de Voer, C. Marleen Kets, Trees J. G. Jansen, Liesbeth Jacobs, Gerty Schreibelt, I. Jolanda M. de Vries, Mihai G. Netea, Nicoline Hoogerbrugge
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Paul C. Johannesma, Arjan C. Houweling, Fred H. Menko, I. van de Beek, Rinze Reinhard, Johan J. P. Gille, JanHein T. M. van Waesberghe, Erik Thunnissen, Theo M. Starink, Pieter E. Postmus, R. Jeroen A. van Moorselaar
Associations between allergic conditions and pediatric brain tumors in Neurofibromatosis type 1
Bree Porcelli, Nancy L. Zoellner, Salmafatima S. Abadin, David H. Gutmann, Kimberly J. Johnson
Correlation between the germline methylation status in ERβ promoter and the risk in prostate cancer: a prospective study
Lihui Wang, Pan Zhang, Xiannan Meng, Xiang Chen, Zou Xiang, Xiaoqian Lin, Ye Liu, Weidong Gan, Xiaodong Han, Dongmei Li
Methylation of the miR-126 gene associated with glioma progression
Hongwei Cui, Yongping Mu, Lei Yu, Ya-guang Xi, Rune Matthiesen, Xiulan Su, Wenjie Sun
Erratum to: Methylation of the miR-126 gene associated with glioma progression
Hongwei Cui, Yongping Mu, Lei Yu, Yaguang Xi, Rune Matthiesen, Xiulan Su, Wenjie Sun
Germline BAP1 mutations misreported as somatic based on tumor-only testing
Mohamed H. Abdel-Rahman, Karan Rai, Robert Pilarski, Frederick H. Davidorf, Colleen M. Cebulla
Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment
Leigh A. Baumgart, Kristen J. Vogel Postula, William A. Knaus
Non-genetic health professionals’ attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer
Kirsten F. L. Douma, Ellen M. A. Smets, Dawn C. Allain
Developing and assessing the utility of a You-Tube based clinical genetics video channel for families affected by inherited tumours
G. E. Jones, J. H. Singletary, A. Cashmore, V. Jain, J. Abhulimhen, J. Chauhan, H. V. Musson, J. G. Barwell