Ausgabe 1/2014
Inhalt (16 Artikel)
Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review
Alexander M. Metcalf, Amanda B. Spurdle
Mammographic surveillance in women aged 35–39 at enhanced familial risk of breast cancer (FH02)
D. G. Evans, S. Thomas, J. Caunt, L. Roberts, A. Howell, M. Wilson, R. Fox, D. M. Sibbering, S. Moss, M. G. Wallis, D. M. Eccles, S. Duffy
The prevalence of small intestinal polyps in patients with familial adenomatous polyposis: a prospective capsule endoscopy study
Atsuo Yamada, Hirotsugu Watabe, Takeo Iwama, Shuntaro Obi, Masao Omata, Kazuhiko Koike
No evidence of genetic anticipation in a large family with Lynch syndrome
D. Stupart, P. Goldberg, U. Algar, A. Vorster, R. Ramesar
Does and should breast cancer genetic counselling include lifestyle advice?
Akke Albada, Madelèn Vernooij, Liesbeth van Osch, Anouk Pijpe, Sandra van Dulmen, Margreet G. E. M. Ausems
Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population
Heather P. Tarleton, Shen-Chih Chang, Sungshim Lani Park, Lin Cai, Baoguo Ding, Na He, Shehnaz K. Hussain, Qingwu Jiang, Li-Na Mu, Jianyu Rao, Hua Wang, Nai-Chieh Y. You, Shun-Zhang Yu, Jin-Kou Zhao, Zuo-Feng Zhang
Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome
Marry H. Nieuwenhuis, C. Marleen Kets, Maureen Murphy-Ryan, Helger G. Yntema, D. Gareth Evans, Chrystelle Colas, Pal Møller, Frederik J. Hes, Shirley V. Hodgson, Maran J. W. Olderode-Berends, Stefan Aretz, Karl Heinimann, Encarna B. Gómez García, Fiona Douglas, Allan Spigelman, Susanne Timshel, Noralane M. Lindor, Hans F. A. Vasen
Lynch Syndrome in high risk Ashkenazi Jews in Israel
Yael Goldberg, Inbal Kedar, Revital Kariiv, Naama Halpern, Morasha Plesser, Ayala Hubert, Luna Kaduri, Michal Sagi, Israela Lerer, Dvorah Abeliovich, Tamar Hamburger, Aviram Nissan, Hanoch Goldshmidt, Irit Solar, Ravit Geva, Hana Strul, Guy Rosner, Hagit Baris, Zohar Levi, Tamar Peretz
Reflex testing for Lynch syndrome: If we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC)
E. Tomiak, A. Samson, N. Spector, M. Mackey, C. Gilpin, E. Smith, D. Jonker, J. Allanson, T. Asmis
Illness perceptions, risk perception and worry in SDH mutation carriers
L. T. van Hulsteijn, A. A. Kaptein, A. Louisse, N. R. Biermasz, J. W. A. Smit, E. P. M. Corssmit
Lack of association between let-7 binding site polymorphism rs712 and risk of nasopharyngeal carcinoma
Xin-Min Pan, Jing Jia, Xiao-Min Guo, Zhao-Hui Li, Zhen Zhang, Hao-Jie Qin, Guo-Hui Xu, Lin-Bo Gao
Impact of breast cancer family history on tumor detection and tumor size in women newly-diagnosed with invasive breast cancer
Fabienne Dominique Schwab, Nicole Bürki, Dorothy Jane Huang, Viola Heinzelmann-Schwarz, Seraina Margaretha Schmid, Marcus Vetter, Andreas Schötzau, Uwe Güth
Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer
Pilar Garre, Lorena Martín, Inmaculada Bando, Alicia Tosar, Patricia Llovet, Julián Sanz, Atocha Romero, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés
MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours
Joakim Crona, Rajani Maharjan, Alberto Delgado Verdugo, Peter Stålberg, Dan Granberg, Per Hellman, Peyman Björklund
The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome
Mariette Renaux-Petel, Richard Sesboüé, Stéphanie Baert-Desurmont, Stéphanie Vasseur, Steeve Fourneaux, Emilie Bessenay, Thierry Frébourg, Gaëlle Bougeard
Diversity of the clinical presentation of the MMR gene biallelic mutations
Gaëlle Bougeard, Laurence Olivier-Faivre, Stéphanie Baert-Desurmont, Julie Tinat, Cosette Martin, Emilie Bouvignies, Stéphanie Vasseur, Frédéric Huet, Gérard Couillault, Pierre Vabres, Florence Le Pessot, Caroline Chapusot, David Malka, Brigitte Bressac-de Paillerets, Mario Tosi, Thierry Frebourg