Ausgabe 1/2016
Inhalt (20 Artikel)
Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients
Agnieszka Synowiec, Gabriel Wcisło, Lubomir Bodnar, Bohdan Górski, Jolanta Szenajch, Katarzyna Szarlej-Wcisło, Cezary Szczylik
Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes
Gabriela C. Fernandes, Rodrigo A. D. Michelli, Cristovam Scapulatempo-Neto, Edenir I. Palmero
BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population
Małgorzata Ławniczak, Anna Jakubowska, Andrzej Białek, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Kaczmarek, Teresa Starzyńska
Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer
Wiktor Szatkowski, Paweł Blecharz, Jerzy W. Mituś, Marek Jasiówka, Elżbieta Łuczyńska, Jerzy Jakubowicz, Tomasz Byrski
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland
P. Wojcik, M. Jasiowka, E. Strycharz, M. Sobol, D. Hodorowicz-Zaniewska, P. Skotnicki, T. Byrski, P. Blecharz, E. Marczyk, I. Cedrych, J. Jakubowicz, J. Lubiński, V. Sopik, S. Narod, P. Pierzchalski
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D. Spigelman, Cliff J. Meldrum, Susan Dooley, Rodney J. Scott
Thank you to all our manuscript reviewers in 2015
Jan Lubinski, Rodney J. Scott, Rolf Sijmons, Sarah M. Theissen
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
D. G. Evans, E. F. Harkness, A. Howell, M. Wilson, E. Hurley, M. M. Holmen, K. U. Tharmaratnam, A. I. Hagen, Y. Lim, A. J. Maxwell, P. Moller
PALB2: research reaching to clinical outcomes for women with breast cancer
Melissa C. Southey, Ingrid Winship, Tú Nguyen-Dumont
Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group
C. H. H. Kerkhofs, A. B. Spurdle, P. J. Lindsey, D. E. Goldgar, E. B. Gómez-García
An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis
Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck, Hans K. Schackert
Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study
Charlotte Warren-Gash, Mark Kroese, Hilary Burton, Paul Pharoah
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients
Marc Bennedbæk, Maria Rossing, Åse K. Rasmussen, Anne-Marie Gerdes, Anne-Bine Skytte, Uffe B. Jensen, Finn C. Nielsen, Thomas v. O. Hansen
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome
Muhammad U. Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed A. Yusuf, Jan Lubiński, Anna Jakubowska, Ute Hamann
Pedigree based DNA sequencing pipeline for germline genomes of cancer families
Asta Försti, Abhishek Kumar, Nagarajan Paramasivam, Matthias Schlesner, Calogerina Catalano, Dagmara Dymerska, Jan Lubinski, Roland Eils, Kari Hemminki
Cytotoxic and targeted therapy for hereditary cancers
Aglaya G. Iyevleva, Evgeny N. Imyanitov
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
Matilde Pensabene, Caterina Condello, Chiara Carlomagno, Sabino De Placido, Raffaella Liccardo, Francesca Duraturo
Prevalence of the CHEK2 R95* germline mutation
Stian Knappskog, Beryl Leirvaag, Liv B. Gansmo, Pål Romundstad, Kristian Hveem, Lars Vatten, Per E. Lønning
Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study
Ana Sánchez Azofra, Trilokesh D. Kidambi, Rita J. Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich, Jonathan P. Terdiman