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: 469G>T; Glu157Ter
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
The Journal Of Pathology
Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
The Journal Of Pathology
Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina 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
Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Song, Jinsoo J; Park, Sujeong S; Oh, Jinjoo J; Kim, Deokha D; Ryu, Ji Hyun JH; Park, Won Cheol WC; Baek, In-Jeoung IJ; Cheng, Xi X; Lu, Xin X; Jin, Eun-Jung EJ
Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
International Journal Of Cancer
Reijnen, Casper C; Küsters-Vandevelde, Heidi V N HVN; Ligtenberg, Marjolijn J L MJL; Bulten, Johan J; Oosterwegel, Marloes M; Snijders, Marc P L M MPLM; Sweegers, Sanne S; de Hullu, Joanne A JA; Vos, Maria C MC; van der Wurff, Anneke A M AAM; van Altena, Anne M AM; Eijkelenboom, Astrid A; Pijnenborg, Johanna M A JMA
Combining ERBB family and MET inhibitors is an effective therapeutic strategy in cutaneous malignant melanoma independent of BRAF/NRAS mutation status.
Cell Death & Disease
Das, Ishani I; Wilhelm, Margareta M; Höiom, Veronica V; Franco Marquez, Rodolfo R; Costa Svedman, Fernanda F; Hansson, Johan J; Tuominen, Rainer R; Egyhàzi Brage, Suzanne S
Publication Date: 2019-09-10
Variant appearance in text: PTEN: 469G>T; Glu157*; rs121909220
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
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
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Nature Communications
Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW
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
Publication Date: 2015-12
Variant appearance in text: PTEN: 469G>T; rs121909220
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30
Variant appearance in text: PTEN: 469G>T; rs121909220