Ausgabe 1/2015
Inhalt (23 Artikel)
Single nucleotide polymorphisms in PDCD6 gene are associated with the development of cervical squamous cell carcinoma
Bin Zhou, Peng Bai, Hui Xue, Zhu Zhang, Shaoqing Shi, Kui Zhang, Yanyun Wang, Kana Wang, Yi Quan, Yaping Song, Lin Zhang
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing
Yanfang Guan, Hong Hu, Yin Peng, Yuhua Gong, Yuting Yi, Libin Shao, Tengfei Liu, Gairui Li, Rongjiao Wang, Pingping Dai, Yves-Jean Bignon, Zhe Xiao, Ling Yang, Feng Mu, Liang Xiao, Zeming Xie, Wenhui Yan, Nan Xu, Dongxian Zhou, Xin Yi
Mitochondrial membrane potential and reactive oxygen species in cancer stem cells
Bei-bei Zhang, Dao-gang Wang, Fen-fen Guo, Chao Xuan
Down-regulation of malignant potential by alpha linolenic acid in human and mouse colon cancer cells
John P. Chamberland, Hyun-Seuk Moon
Desmoid tumour in familial adenomatous polyposis patients: responses to treatments
Thibault Desurmont, Jérémie H. Lefèvre, Conor Shields, Chrystelle Colas, Emmanuel Tiret, Yann Parc
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes
Marialuisa Quadri, Annalisa Vetro, Viviana Gismondi, Monica Marabelli, Lucio Bertario, Paola Sala, Liliana Varesco, Orsetta Zuffardi, Guglielmina N. Ranzani
The impact of risk-reducing gynaecological surgery in premenopausal women at high risk of endometrial and ovarian cancer due to Lynch syndrome
Ramona Moldovan, Sianan Keating, Tara Clancy
Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case
Jinru Shia, Zsofia K. Stadler, Martin R. Weiser, Efsevia Vakiani, Robin Mendelsohn, Arnold J. Markowitz, Moshe Shike, C. Richard Boland, David S. Klimstra
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing
Ashton A. Connor, Hagit Katzov-Eckert, Thomas Whelan, Melyssa Aronson, Lynette Lau, Christian Marshall, George S. Charames, Aaron Pollett, Steven Gallinger, Jordan Lerner-Ellis
MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report
Victoria M. Raymond, Arden M. Morris, Khaled S. Hafez, Joel K. Greenson
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women
Beata Smolarz, Marianna Makowska, Dariusz Samulak, Magdalena M. Michalska, Hanna Romanowicz
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
Ingrid P. Vogelaar, Rachel S. van der Post, Esther van de Vosse, J. Han J. M. van Krieken, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Encarna Gómez García
Familial and sporadic pancreatic cancer share the same molecular pathogenesis
Alexis L. Norris, Nicholas J. Roberts, Siân Jones, Sarah J. Wheelan, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, Ralph H. Hruban, Alison P. Klein, James R. Eshleman
Long-term outcomes of risk-reducing surgery in unaffected women at increased familial risk of breast and/or ovarian cancer
Louise Heiniger, Phyllis N. Butow, Joseph Coll, Tracey Bullen, Judy Wilson, Brandi Baylock, Bettina Meiser, Melanie A. Price
Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability
Jacopo Berrino, Franco Berrino, Silvia Francisci, Bernard Peissel, Jacopo Azzollini, Valeria Pensotti, Paolo Radice, Patrizia Pasanisi, Siranoush Manoukian
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations
Lise B. Ahlborn, Ane Y. Steffensen, Lars Jønson, Malene Djursby, Finn C. Nielsen, Anne-Marie Gerdes, Thomas V. O. Hansen
Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk
Belinda Rahman, Susanne F. Meisel, Lindsay Fraser, Lucy Side, Sue Gessler, Jane Wardle, Anne Lanceley
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe
Natalia Bogdanova, Alexandr V. Togo, Magdalena Ratajska, Wojtek Kluźniak, Zalina Takhirova, Theresa Tarp, Darya Prokofyeva, Marina Bermisheva, Grigoriy A. Yanus, Tatiana V. Gorodnova, Anna P. Sokolenko, Alina Kuźniacka, Amira Podolak, Maciej Stukan, Dominika Wokołorczyk, Jacek Gronwald, Danuta Vasilevska, Vilius Rudaitis, Ingo B. Runnebaum, Matthias Dürst, Tjoung-Won Park-Simon, Peter Hillemanns, Natalia Antonenkova, Elza Khusnutdinova, Janusz Limon, Jan Lubinski, Cezary Cybulski, Evgeny Imyanitov, Thilo Dörk
Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome
Kirsty Mann, Jill Magee, Marine Guillaud-Bataille, Christophe Blondel, Brigitte Bressac-de Paillerets, Josie Yeatman, Ingrid Winship
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review
Aamira Huq, Maira Kentwell, Amanda Tirimacco, Jacqueline Rossini, Lesley Rawlings, Ingrid Winship
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li–Fraumeni syndrome
Anna Etzold, Julia C. Schröder, Oliver Bartsch, Ulrich Zechner, Danuta Galetzka
Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individuals
Shanna L. Gustafson, Victoria M. Raymond, Monica L. Marvin, Tobias Else, Erika Koeppe, Elena M. Stoffel, Jessica N. Everett