Ausgabe 1/2018
Inhalt (22 Artikel)
Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
R. El Tannouri, E. Albuisson, P. Jonveaux, E. Luporsi
Heightened perception of breast cancer risk in young women at risk of familial breast cancer
Rachael Glassey, Moira O’Connor, Angela Ives, Christobel Saunders, Sarah O’Sullivan, Sarah J. Hardcastle
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia
A. M. Cock-Rada, C. A. Ossa, H. I. Garcia, L. R. Gomez
Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries
Anne Brédart, Jean-Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis
Neil Donald, Salim Malik, Joshua L. McGuire, Kevin J. Monahan
Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers
Holly Etchegary, Elizabeth Dicks, Laura Tamutis, Lesa Dawson
RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers
Lochlan J. Fennell, Mark Clendenning, Diane M. McKeone, Saara H. Jamieson, Samanthy Balachandran, Jennifer Borowsky, John Liu, Futoshi Kawamata, Catherine E. Bond, Christophe Rosty, Matthew E. Burge, Daniel D. Buchanan, Barbara A. Leggett, Vicki L. J. Whitehall
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome
Erin E. Salo-Mullen, Patricio B. Lynn, Lu Wang, Michael Walsh, Anuradha Gopalan, Jinru Shia, Christina Tran, Fung Ying Man, Sean McBride, Mark Schattner, Liying Zhang, Martin R. Weiser, Zsofia K. Stadler
Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel
Naim Abu Freha, Yaara Leibovici Weissman, Alexander Fich, Inbal Barnes Kedar, Marisa Halpern, Ignacio Sztarkier, Doron M. Behar, Orly Arbib Sneh, Alex Vilkin, Hagit N. Baris, Rachel Gingold, Flavio Lejbkowicz, Yaron Niv, Yael Goldberg, Zohar Levi
Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing
Rachel Silva-Smith, Daniel A. Sussman
Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas
Mark Clendenning, Alvin Huang, Harindra Jayasekara, Marie Lorans, Susan Preston, Neil O’Callaghan, Bernard J. Pope, Finlay A. Macrae, Ingrid M. Winship, Roger L. Milne, Graham G. Giles, Dallas R. English, John L. Hopper, Aung K. Win, Mark A. Jenkins, Melissa C. Southey, Christophe Rosty, Daniel D. Buchanan
Development of a high risk pancreatic screening clinic using 3.0 T MRI
Chad A. Barnes, Elizabeth Krzywda, Shannon Lahiff, Dena McDowell, Kathleen K. Christians, Paul Knechtges, Parag Tolat, Mark Hohenwalter, Kulwinder Dua, Abdul H. Khan, Douglas B. Evans, Jennifer Geurts, Susan Tsai
Gestational choriocarcinoma associated with a germline TP53 mutation
Anne-Claire Brehin, Sophie Patrier-Sallebert, Gaëlle Bougeard, Gwendoline Side-Pfennig, Francisco Llamas Gutierrez, Aude Lamy, Elodie Colasse, Christine Kandel-Aznar, Capucine Delnatte, Eric Vuillemin, Sophie Sadot-Lebouvier, Sylvie Odent, Jean-Christophe Sabourin, François Golfier, Thierry Frebourg
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma
Raissa C. Andrade, Maria A. F. D. de Lima, Paulo A. S. de Faria, Fernando R. Vargas
Next generation sequencing is informing phenotype: a TP53 example
R. O’Shea, R. Clarke, E. Berkley, C. Giffney, M. Farrell, E. O’Donovan, D. J. Gallagher
Association of genetic variations in RTN4 3′-UTR with risk for clear cell renal cell carcinoma
Yan Pu, Peng Chen, Bin Zhou, Peng Zhang, Yanyun Wang, Yaping Song, Lin Zhang
Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion
Meike Schneider, Katja Dinkelborg, Xiuli Xiao, Gayun Chan-Smutko, Kathleen Hruska, Dongli Huang, Pallavi Sagar, Mukesh Harisinghani, Othon Iliopoulos
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study
Sandi Dheensa, Gillian Crawford, Claire Salter, Michael Parker, Angela Fenwick, Anneke Lucassen
The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations
Sarah Macklin, Jennifer Gass, Ghada Mitri, Paldeep S. Atwal, Stephanie Hines
A single visit multidisciplinary model for managing patients with mutations in moderate and high-risk genes in a community practice setting
Michael P. O’Leary, Bryan S. Goldner, Sridevi Abboy, Philip D. Mercado, Hong Yoon Plurad