Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Autor: Scott M. Weissman, Martha Quezado, Katia Nones, Manuel A. R. Ferreira, Florian Grimpen, Sue Healey, Kelly Hamman, Samantha Hansford, Kasmintan A. Schrader, Anne Marie Patch, Itzhak Avital, Daniel L. Worthley, Pardeep Kaurah, Robertson MacKenzie, Juliet D. French, Evangelos Bellos, Jun Li, Kevin P. Rioux, George Chong, Georgia Chenevix-Trench, Leonard Da Silva, Kathleen A. Calzone, Graeme Suthers, Deborah W. Neklason, Andrew D. Clouston, Hilary C. Martin, Paul S. Meltzer, Jone E. Sampson, Kerry Phillips, Oliver F. Bathe, Theo Heller, Nicola K. Poplawski, Stacey L. Edwards, Peter T. Simpson, Alireza Heravi-Moussavi, David G. Huntsman, Janine Senz, Mark Bettington, Jonathan Beesley, Nicci Wayte, Tamsin R M Lannagan, Xiaoqing Chen, Wendy S. Rubinstein, Lyn Schofield, David E. Goldgar, Christopher Koh, Noralane M. Lindor, Lachlan J. M. Coin, Marie Jeanjean, Joshua J. Waterfall, Pavel N. Pichurin, Amanda B. Spurdle, Sylviane Olschwang, John V. Pearson, Udo Rudloff, Fátima Carneiro, Nicola Waddell, Sunil R. Lakhani, Rita A. Busuttil, Susan L. Woods, Anna Newlin, Haran Sivakumaran, Natasha Di Costanzo, Aurélie Fabre, Xiaogang Wen, Geoffrey J. Faulkner, Jason Sang Hun Lee, Robert L. Walker, Cathy Kiraly-Borri, Peter J. Hulick, Marbin Pineda, Sean Davis, Alex Boussioutas, William D. Foulkes, Jacqueline Armstrong

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩

International audience; Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdd9f9388260e86a9d46ca0872f4fba
https://doi.org/10.1016/j.ajhg.2016.03.001

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

Autor: Marc Dabad, John Douglas Mcpherson, Xose S. Puente, Liu Xi, Ivo Gut, Anne-Marie Patch, Semin Lee, Cyriac Kandoth, Ruben M. Drews, Charlotte Anderson, Eivind Hovig, Paul C. Boutros, Peter J. Campbell, Louis Letourneau, Paolo Ribeca, Hidewaki Nakagawa, Natalie Jäger, Daniel Vodak, Thomas J. Hudson, Anne Sophie Sertier, Pablo H. Hennings-Yeomans, John Zhang, Philip Ginsbach, Laurie Tonon, Emanuele Raineri, Sahil Seth, Sophia Derdak, Benedikt Brors, David T. W. Jones, Minghui He, Sergi Beltran, Rafael Valdés-Mas, David Torrents, Singer Ma, Myron Peto, Nagarajan Paramasivam, Matthew D. Eldridge, Robert E. Denroche, Paul T. Spellman, Francesc Castro Giner, Roland Eils, Timothy Beck, Sigve Nakken, Daniela S. Gerhard, Lawrence E. Heisler, Jared T. Simpson, Víctor Quesada, Rolf Kabbe, Andy G. Lynch, Patrick S. Tarpey, Lawrence Bower, Akihiro Fujimoto, Barbara Hutter, Matthias Schlesner, Marta Gut, Ivo Buchhalter, David A. Wheeler, Takafumi N. Yamaguchi, Simon Heath, Nicholas J. Harding, Tyler Alioto

The emergence of next generation DNA sequencing technology is enabling high-resolution cancer genome analysis. Large-scale projects like the International Cancer Genome Consortium (ICGC) are systematically scanning cancer genomes to identify recurren

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be0553b35fcc131ab256838132ea3c7
https://doi.org/10.1101/012997