Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.
Current Oncology (Toronto, Ont.)
Englert-Golon, Monika M; Budny, Bartłomiej B; Lewandowska, Małgorzata M; Burchardt, Bartosz B; Smolarek, Natalia N; Ziemnicka, Katarzyna K; Jagodziński, Paweł Piotr PP; Ruchała, Marek M; Grabowska, Marlena M; Sajdak, Stefan S
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
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
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Comprehensive Immune Profiling of Medullary Thyroid Cancer.
Thyroid : Official Journal Of The American Thyroid Association
Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08
Variant appearance in text: TP53: 480G>A; Met160Ile
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Oncogene
Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
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
Analytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of TP53 Missense Mutation in Prostate Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Guedes, Liana B LB; Almutairi, Fawaz F; Haffner, Michael C MC; Rajoria, Gaurav G; Liu, Zach Z; Klimek, Szczepan S; Zoino, Roberto R; Yousefi, Kasra K; Sharma, Rajni R; De Marzo, Angelo M AM; Netto, George J GJ; Isaacs, William B WB; Ross, Ashley E AE; Schaeffer, Edward M EM; Lotan, Tamara L TL
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Nature Communications
Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
HRAS mutations are frequent in inverted urothelial neoplasms.
Human Pathology
McDaniel, Andrew S AS; Zhai, Yali Y; Cho, Kathleen R KR; Dhanasekaran, Saravana M SM; Montgomery, Jeffrey S JS; Palapattu, Ganesh G; Siddiqui, Javed J; Morgan, Todd T; Alva, Ajjai A; Weizer, Alon A; Lee, Cheryl T CT; Chinnaiyan, Arul M AM; Quist, Michael J MJ; Grasso, Catherine S CS; Tomlins, Scott A SA; Mehra, Rohit R
p53 suppresses type II endometrial carcinomas in mice and governs endometrial tumour aggressiveness in humans.
Embo Molecular Medicine
Wild, Peter J PJ; Ikenberg, Kristian K; Fuchs, Thomas J TJ; Rechsteiner, Markus M; Georgiev, Strahil S; Fankhauser, Niklaus N; Noske, Aurelia A; Roessle, Matthias M; Caduff, Rosmarie R; Dellas, Athanassios A; Fink, Daniel D; Moch, Holger H; Krek, Wilhelm W; Frew, Ian J IJ