Ausgabe 4/2016
Inhalt (25 Artikel)
Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis
Renaud Sabatier, Elise Lavit, Jessica Moretta, Eric Lambaudie, Tetsuro Noguchi, François Eisinger, Elisabeth Cherau, Magali Provansal, Doriane Livon, Laetitia Rabayrol, Cornel Popovici, Emmanuelle Charaffe-Jauffret, Hagay Sobol, Patrice Viens
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population
Henriette Roed Nielsen, Mef Nilbert, Janne Petersen, Steen Ladelund, Mads Thomassen, Inge Søkilde Pedersen, Thomas V. O. Hansen, Anne-Bine Skytte, Åke Borg, Christina Therkildsen
Modeling the dyadic effects of parenting, stress, and coping on parent–child communication in families tested for hereditary breast-ovarian cancer risk
Jada G. Hamilton, Darren Mays, Tiffani DeMarco, Kenneth P. Tercyak
No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families
Henriette Roed Nielsen, Janne Petersen, Lotte Krogh, Mef Nilbert, Anne-Bine Skytte
Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer
Aryana S. Jacobs, Marc D. Schwartz, Heiddis Valdimarsdottir, Rachel H. Nusbaum, Gillian W. Hooker, Tiffani A. DeMarco, Jessica E. Heinzmann, Wendy McKinnon, Shelley R. McCormick, Claire Davis, Andrea D. Forman, Alexandra Perez Lebensohn, Emily Dalton, Diana Moglia Tully, Kristi D. Graves, Morgan Similuk, Scott Kelly, Beth N. Peshkin
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer
Olle Sjöström, Lars Lindholm, Björn Tavelin, Beatrice Melin
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
Masakazu Kohda, Kensuke Kumamoto, Hidetaka Eguchi, Tomoko Hirata, Yuhki Tada, Kohji Tanakaya, Kiwamu Akagi, Seiichi Takenoshita, Takeo Iwama, Hideyuki Ishida, Yasushi Okazaki
Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
Z. Ghorbanoghli, M. H. Nieuwenhuis, J. J. Houwing-Duistermaat, S. Jagmohan-Changur, F. J. Hes, C. M. Tops, A. Wagner, C. M. Aalfs, S. Verhoef, E. B. Gómez García, R. H. Sijmons, F. H. Menko, T. G. Letteboer, N. Hoogerbrugge, T. van Wezel, H. F. A. Vasen, J. T. Wijnen
MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation
Aurélia Nguyen, Gaelle Bougeard, Meriam Koob, Marie Pierre Chenard, Anne Schneider, Christine Maugard, Natacha Entz-Werle
CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome
Aysel Ahadova, Magnus von Knebel Doeberitz, Hendrik Bläker, Matthias Kloor
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency
Maureen E. Mork, Ester Borras, Melissa W. Taggart, Amanda Cuddy, Sarah A. Bannon, Y. Nancy You, Patrick M. Lynch, Pedro T. Ramirez, Miguel A. Rodriguez-Bigas, Eduardo Vilar
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes
Sara E. Dobbins, Peter Broderick, Daniel Chubb, Ben Kinnersley, Amy L. Sherborne, Richard S. Houlston
A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
Borum Sagong, Young Joon Seo, Hyun-Jin Lee, Mi Joo Kim, Un-Kyung Kim, In Seok Moon
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma
Roeliene C. Kruizinga, Denise M. S. van Marion, Wilfred F. A. den Dunnen, Jan C. de Groot, Eelco W. Hoving, Sjoukje F. Oosting, Hetty Timmer-Bosscha, Rosalie P. H. Derks, Chantal Cornelissen, Rob B. van der Luijt, Thera P. Links, Elisabeth G. E. de Vries, Annemiek M. E. Walenkamp
Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India
Manjunath Goroshi, Tushar Bandgar, Anurag R. Lila, Swati Sachin Jadhav, Shruti Khare, Shailesh V. Shrikhande, Shinya Uchino, Abhay N. Dalvi, Nalini S. Shah
MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics
Jessica Oliboni Scapineli, Lucieli Ceolin, Márcia Khaled Puñales, José Miguel Dora, Ana Luiza Maia
Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations
Francesca Ponti, Serena Corsini, Maria Gnoli, Elena Pedrini, Marina Mordenti, Luca Sangiorgi
Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome
Tiziana Cavalli, Francesco Giudici, Raffaella Santi, Gabriella Nesi, Maria Luisa Brandi, Francesco Tonelli
Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families
Jazlyn Read, Judith Symmons, Jane M. Palmer, Grant W. Montgomery, Nicholas G. Martin, Nicholas K. Hayward
An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC)
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H. Hardwick, Rebecca C. Fitzgerald, Julia Lawton
Occurrence of renal cell carcinoma and hematologic malignancies (predominantly lymphoid) in individuals and in families
Janice P. Dutcher, Peter H. Wiernik, Leticia Varella, Rangaswamy Chintapatla
Evaluation of laboratory perspectives on hereditary cancer panels
Jessica Stoll, Scott M. Weissman, Nicole Hook, Christina Selkirk, Amy Knight Johnson, Anna Newlin, Kristen J. Vogel Postula
Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study
Mary B. Daly, Susan Montgomery, Ruth Bingler, Karen Ruth
A model for patient-direct screening and referral for familial cancer risk
Kristin B. Niendorf, Melissa A. Geller, Rachel Isaksson Vogel, Timothy R. Church, Anna Leininger, Angela Bakke, Robert D. Madoff