Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PTEN: 323T>C; Leu108Pro
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Annals Of Neurology
Shao, Diane D DD; Achkar, Christelle M CM; Lai, Abbe A; Srivastava, Siddharth S; Doan, Ryan N RN; Rodan, Lance H LH; Chen, Allen Y AY; , ; Poduri, Annapurna A; Yang, Edward E; Walsh, Christopher A CA
Publication Date: 2020-12
Variant appearance in text: PTEN: 323T>C; Leu108Pro
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Nature Genetics
Matreyek, Kenneth A KA; Starita, Lea M LM; Stephany, Jason J JJ; Martin, Beth B; Chiasson, Melissa A MA; Gray, Vanessa E VE; Kircher, Martin M; Khechaduri, Arineh A; Dines, Jennifer N JN; Hause, Ronald J RJ; Bhatia, Smita S; Evans, William E WE; Relling, Mary V MV; Yang, Wenjian W; Shendure, Jay J; Fowler, Douglas M DM
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
The Journal Of Allergy And Clinical Immunology
Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH
Publication Date: 2017-02
Variant appearance in text: PTEN: 323T>C; Leu108Pro
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.
The American Journal Of Surgical Pathology
Kurek, Kyle C KC; Howard, Emily E; Tennant, L B LB; Upton, Joseph J; Alomari, Ahmad I AI; Burrows, Patricia E PE; Chalache, Kim K; Harris, David J DJ; Trenor, Cameron C CC; Eng, Charis C; Fishman, Steven J SJ; Mulliken, John B JB; Perez-Atayde, Antonio R AR; Kozakewich, Harry P W HP
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
Journal Of Medical Genetics
Tan, Wen-Hann WH; Baris, Hagit N HN; Burrows, Patricia E PE; Robson, Caroline D CD; Alomari, Ahmad I AI; Mulliken, John B JB; Fishman, Steven J SJ; Irons, Mira B MB