Ausgabe 4/2009
Inhalt (41 Artikel)
Patient preferences and National Health Service costs: a cost-consequences analysis of cancer genetic services
Gethin L. Griffith, Rhiannon Tudor Edwards, J. Mark G. Williams, Jonathon Gray, Val Morrison, Clare Wilkinson, Jim Turner, Barbara France, Paul Bennett
Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting
Debra Morgan, Heather Sylvester, F. Lee Lucas, Susan Miesfeldt
Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing
Makia J. Marafie, Sadiqa Al-Awadi, Fatemah Al-Mosawi, Alaa Elshafey, Waleed Al-Ali, Fahd Al-Mulla
The relationship between knowledge of family history and cancer characteristics at diagnosis in women newly-diagnosed with invasive breast cancer
Marijana Lijovic, Susan R. Davis, Pam Fradkin, Jo Bradbury, Maria La China, Max Schwarz, Rory Wolfe, Helen Farrugia, Robin J. Bell
Genetic polymorphism in ornithine decarboxylase and risk of breast cancer
Iain Brown, Susan Halliday, Heather Greig, Steven D. Heys, Heather M. Wallace, Andrew C. Schofield
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis
Michael D. Walsh, Daniel D. Buchanan, Rhiannon Walters, Aedan Roberts, Sven Arnold, Diane McKeone, Mark Clendenning, Andrew R. Ruszkiewicz, Mark A. Jenkins, John L. Hopper, Jack Goldblatt, Jillian George, Graeme K. Suthers, Kerry Phillips, Graeme P. Young, Finlay Macrae, Musa Drini, Michael O. Woods, Susan Parry, Jeremy R. Jass, Joanne P. Young
Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact
Karin M. Landsbergen, Judith B. Prins, Han G. Brunner, Floris W. Kraaimaat, Nicoline Hoogerbrugge
Methylation not a frequent “second hit” in tumors with germline BRCA mutations
Amy M. Dworkin, Andrew D. Spearman, Stephanie Y. Tseng, Kevin Sweet, Amanda Ewart Toland
PALB2 sequence variants in young South African breast cancer patients
Michelle Sluiter, Samantha Mew, Elizabeth J. van Rensburg
CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia
Eswary Thirthagiri, Leng San Cheong, Cheng Har Yip, Soo-Hwang Teo
First case report of Muir–Torre syndrome associated with non-small cell lung cancer
L. Nolan, D. Eccles, E. Cross, G. Crawford, N. Beck, A. Bateman, C. Ottensmeier
Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals
Wendy McKinnon, Kimberly C. Banks, Joan Skelly, Wendy Kohlmann, Robin Bennett, Kristen Shannon, Joy Larson-Haidle, Taka Ashakaga, Jeffrey N. Weitzel, Marie Wood
Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes
Valérie Chaudru, M. T. Lo, F. Lesueur, C. Marian, H. Mohamdi, K. Laud, M. Barrois, A. Chompret, M. F. Avril, F. Demenais, B. Bressac-de Paillerets
Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation
Caterina Mian, Susi Barollo, Laura Zambonin, Gianmaria Pennelli, Paolo Bernante, Maria Rosa Pelizzo, Davide Nacamulli, Franco Mantero, Maria Elisa Girelli, Giuseppe Opocher
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset
Carla Pinto, Isabel Veiga, Manuela Pinheiro, Ana Peixoto, Armando Pinto, José M. Lopes, Rui M. Reis, Carla Oliveira, Manuela Baptista, Lúcia Roque, Fernando Regateiro, Luís Cirnes, Robert M. W. Hofstra, Raquel Seruca, Sérgio Castedo, Manuel R. Teixeira
Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome
Lotte H. M. Gerritzen, Nicoline Hoogerbrugge, Angèle L. M. Oei, Fokko M. Nagengast, Maaike A. P. C. van Ham, Leon F. A. G. Massuger, Joanne A. de Hullu
The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women
Tal Distelman Menachem, Yael Laitman, Bella Kaufman, Eitan Friedman
Cancer genetic predisposition: information needs of patients irrespective of risk level
Alison Metcalfe, Julie Werrett, Lucy Burgess, Cyril Chapman, Collette Clifford
A high frequent BRCA1 founder mutation identified in the Greenlandic population
Theresa Larriba Harboe, Hans Eiberg, Peder Kern, Bent Ejlertsen, Lotte Nedergaard, Vera Timmermans-Wielenga, Inge-Merete Nielsen, Marie Luise Bisgaard
Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome
Gašper Berginc, Matej Bračko, Metka Ravnik-Glavač, Damjan Glavač
Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study
K. Elmasry, A. J. Davies, D. G. Evans, M. N. Seif, K. Reynolds
Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer
Gwendolyn P. Quinn, Susan T. Vadaparampil, Lindsey M. King, Cheryl A. Miree, Sue Friedman
Younger age-at-diagnosis for familial malignant testicular germ cell tumor
Phuong L. Mai, Bingshu E. Chen, Kathy Tucker, Michael Friedlander, Kelly-Anne Phillips, David Hogg, Michael A. S. Jewett, Istvan Bodrogi, Lajos Geczi, Edith Olah, Ketil Heimdal, Sophie D. Fosså, Katherine L. Nathanson, Larissa Korde, Douglas F. Easton, Darshna Dudakia, Robert Huddart, Michael R. Stratton, D. Timothy Bishop, Elizabeth A. Rapley, Mark H. Greene
Attitude towards pre-implantation genetic diagnosis for hereditary cancer
Chantal Lammens, Eveline Bleiker, Neil Aaronson, Annette Vriends, Margreet Ausems, Maaike Jansweijer, Anja Wagner, Rolf Sijmons, Ans van den Ouweland, Rob van der Luijt, Liesbeth Spruijt, Encarna Gómez García, Mariëlle Ruijs, Senno Verhoef
Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease
Shirin Hasani-Ranjbar, Mahsa M. Amoli, Azadeh Ebrahim-Habibi, Vahid Haghpanah, Maryam Hejazi, Akbar Soltani, Bagher Larijani
Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
Bella Kaufman, Yael Laitman, Jacek Gronwald, Robert Winqvist, Arvids Irmejs, Jan Lubinski, Katri Pylkäs, Janis Gardovskis, Edvins Miklasevics, Eitan Friedman
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer
Emma Edwards, Catharina Yearwood, Julie Sillibourne, Diana Baralle, Diana Eccles
Are prediction models for Lynch syndrome valid for probands with endometrial cancer?
Floor J. Backes, Heather Hampel, Katherine A. Backes, Luis Vaccarello, George Lewandowski, Jeffrey A. Bell, Gary C. Reid, Larry J. Copeland, Jeffrey M. Fowler, David E. Cohn
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients
Lise Lotte Christensen, Reetta Kariola, Mari K. Korhonen, Friedrik P. Wikman, Lone Sunde, Anne-Marie Gerdes, Henrik Okkels, Carsten A. Brandt, Inge Bernstein, Thomas V. O. Hansen, Rikke Hagemann-Madsen, Claus L. Andersen, Minna Nyström, Torben F. Ørntoft
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome
Israel Zighelboim, Matthew A. Powell, Sheri A. Babb, Alison J. Whelan, Amy P. Schmidt, Mark Clendenning, Leigha Senter, Stephen N. Thibodeau, Albert de la Chapelle, Paul J. Goodfellow
Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population
Moon-Woo Seong, Sung Im Cho, Dong-Young Noh, Wonshik Han, Sung-Won Kim, Chul-Min Park, Hyun-Woong Park, So Yeon Kim, Ji Yeon Kim, Sung Sup Park
Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay
Hiromu Naruse, Noriko Ikawa, Kiyoshi Yamaguchi, Yusuke Nakamura, Masami Arai, Chikashi Ishioka, Kokichi Sugano, Kazuo Tamura, Naohiro Tomita, Nagahide Matsubara, Teruhiko Yoshida, Yoshihiro Moriya, Yoichi Furukawa
Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation
D. A. Stupart, P. A. Goldberg, U. Algar, R. Ramesar
Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
María Dolores Giráldez, Francesc Balaguer, Trinidad Caldés, Ana Sanchez-de-Abajo, Nuria Gómez-Fernández, Clara Ruiz-Ponte, Jenifer Muñoz, Pilar Garre, Victoria Gonzalo, Leticia Moreira, Teresa Ocaña, Joan Clofent, Angel Carracedo, Montserrat Andreu, Rodrigo Jover, Xavier Llor, Antoni Castells, Sergi Castellví-Bel
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations
Cristina Martínez-Bouzas, Elena Beristain, Enrique Ojembarrena, Jose Errasti, Karmele Mujika, Noelia Viguera, Maria Isabel Tejada
p53 tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li–Fraumeni syndrome and a child with adrenocortical carcinoma
Lucja Fiszer-Maliszewska, Bernarda Kazanowska, Joanna Padzik
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome
S. Gargiulo, M. Torrini, S. Ollila, S. Nasti, L. Pastorino, R. Cusano, L. Bonelli, L. Battistuzzi, L. Mastracci, W. Bruno, V. Savarino, S. Sciallero, G. Borgonovo, M. Nyström, G. Bianchi-Scarrà, C. Mareni, P. Ghiorzo
The correlation between a family history of colorectal cancer and survival of patients with colorectal cancer
Helgi Birgisson, Arezo Ghanipour, Kennet Smedh, Lars Påhlman, Bengt Glimelius
The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30
Ophira M. Ginsburg, Mohammad R. Akbari, Zeba Aziz, Robert Young, Henry Lynch, Parviz Ghadirian, Andre Robidoux, Julian Londono, Gonzalo Vasquez, Magda Gomes, Mauricio Magalhaes Costa, Constantine Dimitrakakis, Gustavo Gutierrez, Robert Pilarski, Robert Royer, Steven A. Narod
FAP-associated desmoid invasiveness correlates with in vitro resistance to doxorubicin
David E. Joyner, Sylvia H. Trang, Albert J. Aboulafia, Timothy A. Damron, R. Lor Randall
Molecular study of CEPBA in familial hematological malignancies
R. El Abed, V. Bourdon, L. Huiart, F. Eisinger, A. Khelif, M. Frenay, P. Gesta, L. Demange, H. Dreyfus, V. Bonadona, C. Dugast, H. Zattara, L. Faivre, T. Noguchi, R. Sauvan, Z. Soua, H. Sobol