Ausgabe 3/2015
Inhalt (18 Artikel)
Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation
Maria Teresa Vietri, Gemma Caliendo, Concetta Schiano, Amelia Casamassimi, Anna Maria Molinari, Claudio Napoli, Michele Cioffi
Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population
Nelly M. Macías-Gómez, Valeria Peralta-Leal, Juan Pablo Meza-Espinoza, Melva Gutiérrez-Angulo, Jorge Durán-González, Juan Manuel Ramírez-González, Alejandra Gaspar-Del Toro, Adolfo Norberto-Rodríguez, Evelia Leal-Ugarte
Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study
M. R. Wevers, M. K. Schmidt, E. G. Engelhardt, S. Verhoef, M. J. Hooning, M. Kriege, C. Seynaeve, M. Collée, C. J. van Asperen, R. A. E. M. Tollenaar, L. B. Koppert, A. J. Witkamp, E. J. T. Rutgers, N. K. Aaronson, M. A. Rookus, M. G. E. M. Ausems
Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation
Haeyoung Kim, Dae-Yeon Cho, Doo Ho Choi, Gee Hue Jung, Inkyung Shin, Won Park, Seung Jae Huh, Sung-Won Kim, Sue K. Park, Jong Won Lee, Seok Jin Nam, Jeong Eon Lee, Won Ho Gil, Seok Won Kim
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation
Ashley Farrelly, Victoria White, Mary-Anne Young, Michael Jefford, Sandra Ieropoli, Jessica Duffy, Ingrid Winship, Bettina Meiser
Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study
Yakir Segev, Barry Rosen, Jan Lubinski, Jacek Gronwald, Henry T. Lynch, Pal Moller, Charmaine Kim-Sing, Parviz Ghadirian, Beth Karlan, Charis Eng, Dawna Gilchrist, Susan L. Neuhausen, Andrea Eisen, Eitan Friedman, David Euhus, Sun Ping, Steven A. Narod
The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24
Laura Aviaja Rudkjøbing, Hans Eiberg, Hanne Birte Mikkelsen, Marie Louise Mølgaard Binderup, Marie Luise Bisgaard
Validation of an online questionnaire for identifying people at risk of familial and hereditary colorectal cancer
F. G. J. Kallenberg, J. E. G. IJspeert, P. M. M. Bossuyt, C. M. Aalfs, E. Dekker
Pitfalls in the diagnosis of biallelic PMS2 mutations
Marina Antelo, Daniela Milito, Jennifer Rhees, Enrique Roca, Miguel Barugel, Miriam Cuatrecasas, Leticia Moreira, Maria Liz Leoz, Sabela Carballal, Teresa Ocaña, Maria Pellisé, Antoni Castells, C. Richard Boland, Ajay Goel, Francesc Balaguer
Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome
Marcia Cruz-Correa, Yaritza Diaz-Algorri, Julyann Pérez-Mayoral, Wasilah Suleiman-Suleiman, Maria del Mar Gonzalez-Pons, Carlos Bertrán, Nicolás Casellas, Natalia Rodríguez, Sherly Pardo, Keyla Rivera, Rafael Mosquera, Segundo Rodriguez-Quilichini
Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews
Guy Rosner, Dani Bercovich, Yael Etzion Daniel, Hana Strul, Naomi Fliss-Isakov, Meirav Ben-Yehoiada, Erwin Santo, Zamir Halpern, Revital Kariv
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine
Maren F. Hansen, Jostein Johansen, Inga Bjørnevoll, Anna E. Sylvander, Kristin S. Steinsbekk, Pål Sætrom, Arne K. Sandvik, Finn Drabløs, Wenche Sjursen
3′-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity
Johanna Kondelin, Sari Tuupanen, Alexandra E. Gylfe, Mervi Aavikko, Laura Renkonen-Sinisalo, Heikki Järvinen, Jan Böhm, Jukka-Pekka Mecklin, Claus L. Andersen, Pia Vahteristo, Esa Pitkänen, Lauri A. Aaltonen
Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz–Jeghers syndrome
Pawel Borun, Marina De Rosa, Boguslaw Nedoszytko, Jaroslaw Walkowiak, Andrzej Plawski
Germline mutations predisposing to non-small cell lung cancer
Gerald H. Clamon, Aaron D. Bossler, Taher Abu Hejleh, Muhammad Furqan
Genetic screening in patients with Retinoblastoma in Israel
Michal Sagi, Avishag Frenkel, Avital Eilat, Naomi Weinberg, Shahar Frenkel, Jacob Pe’er, Dvorah Abeliovich, Israela Lerer
The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance
Elizabeth Varga, Elizabeth C. Chao, Nicholas D. Yeager
Zebrafish xenotransplantation as a tool for in vivo cancer study
Beibei Zhang, Chao Xuan, Yunxi Ji, Weiming Zhang, Daogang Wang