KRAS, NRAS, BRAF, HER2 and MSI Status in a Large Consecutive Series of Colorectal Carcinomas.
International Journal Of Molecular Sciences
Martianov, Aleksandr S AS; Mitiushkina, Natalia V NV; Ershova, Anastasia N AN; Martynenko, Darya E DE; Bubnov, Mikhail G MG; Amankwah, Priscilla P; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Tiurin, Vladislav I VI; Venina, Aigul R AR; Anuskina, Aleksandra A AA; Gorgul, Yuliy A YA; Shestakova, Anna D AD; Maidin, Mikhail A MA; Belyaev, Alexey M AM; Baboshkina, Liliya S LS; Iyevleva, Aglaya G AG; Imyanitov, Evgeny N EN
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: NRAS: 179G>A; Gly60Glu
First-in-human phase I dose-escalation and dose-expansion trial of the selective MEK inhibitor HL-085 in patients with advanced melanoma harboring NRAS mutations.
Bmc Medicine
Wang, Xuan X; Luo, Zhiguo Z; Chen, Jing J; Chen, Yu Y; Ji, Dongmei D; Fan, Li L; Chen, Ling L; Zhao, Qian Q; Hu, Pei P; Sun, Peng P; Jia, Zhongwei Z; Guo, Jun J; Si, Lu L
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Blood
Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Science Advances
Vitsios, Dimitrios D; Dhindsa, Ryan S RS; Matelska, Dorota D; Mitchell, Jonathan J; Zou, Xuequing X; Armenia, Joshua J; Hu, Fengyuan F; Wang, Quanli Q; Sidders, Ben B; Harper, Andrew R AR; Petrovski, Slavé S
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06
Variant appearance in text: NRAS: 179G>A; Gly60Glu
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
Spectrum of Mechanisms of Resistance to Crizotinib and Lorlatinib in ROS1 Fusion-Positive Lung Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Lin, Jessica J JJ; Choudhury, Noura J NJ; Yoda, Satoshi S; Zhu, Viola W VW; Johnson, Ted W TW; Sakhtemani, Ramin R; Dagogo-Jack, Ibiayi I; Digumarthy, Subba R SR; Lee, Charlotte C; Do, Andrew A; Peterson, Jennifer J; Prutisto-Chang, Kylie K; Malik, Wafa W; Hubbeling, Harper G HG; Langenbucher, Adam A; Schoenfeld, Adam J AJ; Falcon, Christina J CJ; Temel, Jennifer S JS; Sequist, Lecia V LV; Yeap, Beow Y BY; Lennerz, Jochen K JK; Shaw, Alice T AT; Lawrence, Michael S MS; Ou, Sai-Hong Ignatius SI; Hata, Aaron N AN; Drilon, Alexander A; Gainor, Justin F JF
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
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
Prospective evaluation of two screening methods for molecular testing of metastatic melanoma: Diagnostic performance of BRAF V600E immunohistochemistry and of a NRAS-BRAF fully automated real-time PCR-based assay.
Plos One
Vallée, Audrey A; Denis-Musquer, Marie M; Herbreteau, Guillaume G; Théoleyre, Sandrine S; Bossard, Céline C; Denis, Marc G MG
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Clinical validation of coexisting driver mutations in colorectal cancers.
Human Pathology
Zheng, Gang G; Tseng, Li-Hui LH; Haley, Lisa L; Ibrahim, Junaid J; Bynum, Jennifer J; Xian, Rena R; Gocke, Christopher D CD; Eshleman, James R JR; Lin, Ming-Tseh MT
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
Hybrid Capture-Based Genomic Profiling of Circulating Tumor DNA from Patients with Advanced Cancers of the Gastrointestinal Tract or Anus.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Schrock, Alexa B AB; Pavlick, Dean D; Klempner, Samuel J SJ; Chung, Jon H JH; Forcier, Brady B; Welsh, Allison A; Young, Lauren L; Leyland-Jones, Bryan B; Bordoni, Rodolfo R; Carvajal, Richard D RD; Chao, Joseph J; Kurzrock, Razelle R; Sicklick, Jason K JK; Ross, Jeffrey S JS; Stephens, Philip J PJ; Devoe, Craig C; Braiteh, Fadi F; Ali, Siraj M SM; Miller, Vincent A VA
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
Genotype and phenotype spectrum of NRAS germline variants.
European Journal Of Human Genetics : Ejhg
Altmüller, Franziska F; Lissewski, Christina C; Bertola, Debora D; Flex, Elisabetta E; Stark, Zornitza Z; Spranger, Stephanie S; Baynam, Gareth G; Buscarilli, Michelle M; Dyack, Sarah S; Gillis, Jane J; Yntema, Helger G HG; Pantaleoni, Francesca F; van Loon, Rosa LE RL; MacKay, Sara S; Mina, Kym K; Schanze, Ina I; Tan, Tiong Yang TY; Walsh, Maie M; White, Susan M SM; Niewisch, Marena R MR; García-Miñaúr, Sixto S; Plaza, Diego D; Ahmadian, Mohammad Reza MR; Cavé, Hélène H; Tartaglia, Marco M; Zenker, Martin M
Publication Date: 2017-06
Variant appearance in text: NRAS: 179G>A; Gly60Glu
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
Plos One
Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.
European Journal Of Human Genetics : Ejhg
Mason-Suares, Heather H; Toledo, Diana D; Gekas, Jean J; Lafferty, Katherine A KA; Meeks, Naomi N; Pacheco, M Cristina MC; Sharpe, David D; Mullen, Thomas E TE; Lebo, Matthew S MS
Publication Date: 2017-04
Variant appearance in text: NRAS: 179G>A; Gly60Glu
Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Oncotarget
Lindqvist, C Mårten CM; Lundmark, Anders A; Nordlund, Jessica J; Freyhult, Eva E; Ekman, Diana D; Carlsson Almlöf, Jonas J; Raine, Amanda A; Övernäs, Elin E; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Palle, Josefine J; Forestier, Erik E; Lönnerholm, Gudmar G; Berglund, Eva C EC; Syvänen, Ann-Christine AC
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies.
The Journal Of Molecular Diagnostics : Jmd
Fisher, Kevin E KE; Zhang, Linsheng L; Wang, Jason J; Smith, Geoffrey H GH; Newman, Scott S; Schneider, Thomas M TM; Pillai, Rathi N RN; Kudchadkar, Ragini R RR; Owonikoko, Taofeek K TK; Ramalingam, Suresh S SS; Lawson, David H DH; Delman, Keith A KA; El-Rayes, Bassel F BF; Wilson, Malania M MM; Sullivan, H Clifford HC; Morrison, Annie S AS; Balci, Serdar S; Adsay, N Volkan NV; Gal, Anthony A AA; Sica, Gabriel L GL; Saxe, Debra F DF; Mann, Karen P KP; Hill, Charles E CE; Khuri, Fadlo R FR; Rossi, Michael R MR
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Bmc Medical Genetics
Ekvall, Sara S; Wilbe, Maria M; Dahlgren, Jovanna J; Legius, Eric E; van Haeringen, Arie A; Westphal, Otto O; Annerén, Göran G; Bondeson, Marie-Louise ML
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Jama
Mody, Rajen J RJ; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Cao, Xuhong X; Roychowdhury, Sameek S; Vats, Pankaj P; Frank, Kevin M KM; Prensner, John R JR; Asangani, Irfan I; Palanisamy, Nallasivam N; Dillman, Jonathan R JR; Rabah, Raja M RM; Kunju, Laxmi Priya LP; Everett, Jessica J; Raymond, Victoria M VM; Ning, Yu Y; Su, Fengyun F; Wang, Rui R; Stoffel, Elena M EM; Innis, Jeffrey W JW; Roberts, J Scott JS; Robertson, Patricia L PL; Yanik, Gregory G; Chamdin, Aghiad A; Connelly, James A JA; Choi, Sung S; Harris, Andrew C AC; Kitko, Carrie C; Rao, Rama Jasty RJ; Levine, John E JE; Castle, Valerie P VP; Hutchinson, Raymond J RJ; Talpaz, Moshe M; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
American Journal Of Medical Genetics. Part A
Gripp, Karen W KW; Sol-Church, Katia K; Smpokou, Patroula P; Graham, Gail E GE; Stevenson, David A DA; Hanson, Heather H; Viskochil, David H DH; Baker, Laura C LC; Russo, Bridget B; Gardner, Nick N; Stabley, Deborah L DL; Kolbe, Verena V; Rosenberger, Georg G
Publication Date: 2015-09
Variant appearance in text: NRAS: 179G>A; Gly60Glu
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA