Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions.
Acta Neuropathologica
Bogumil, Henri H; Sill, Martin M; Schrimpf, Daniel D; Ismer, Britta B; Blume, Christina C; Rahmanzade, Ramin R; Hinz, Felix F; Cherkezov, Asan A; Banan, Rouzbeh R; Friedel, Dennis D; Reuss, David E DE; Selt, Florian F; Ecker, Jonas J; Milde, Till T; Pajtler, Kristian W KW; Schittenhelm, Jens J; Hench, Jürgen J; Frank, Stephan S; Boldt, Henning B HB; Kristensen, Bjarne Winther BW; Scheie, David D; Melchior, Linea C LC; Olesen, Viola V; Sehested, Astrid A; Boué, Daniel R DR; Abdullaev, Zied Z; Satgunaseelan, Laveniya L; Kurth, Ina I; Seidlitz, Annekatrin A; White, Christine L CL; Ng, Ho-Keung HK; Shi, Zhi-Feng ZF; Haberler, Christine C; Deckert, Martina M; Timmer, Marco M; Goldbrunner, Roland R; Tauziède-Espariat, Arnault A; Varlet, Pascale P; Brandner, Sebastian S; Alexandrescu, Sanda S; Snuderl, Matija M; Aldape, Kenneth K; Korshunov, Andrey A; Witt, Olaf O; Herold-Mende, Christel C; Unterberg, Andreas A; Wick, Wolfgang W; Pfister, Stefan M SM; von Deimling, Andreas A; Jones, David T W DTW; Sahm, Felix F; Sievers, Philipp P
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Npj Breast Cancer
Kostecka, Anna A; Nowikiewicz, Tomasz T; Olszewski, Paweł P; Koczkowska, Magdalena M; Horbacz, Monika M; Heinzl, Monika M; Andreou, Maria M; Salazar, Renato R; Mair, Theresa T; Madanecki, Piotr P; Gucwa, Magdalena M; Davies, Hanna H; Skokowski, Jarosław J; Buckley, Patrick G PG; Pęksa, Rafał R; Śrutek, Ewa E; Szylberg, Łukasz Ł; Hartman, Johan J; Jankowski, Michał M; Zegarski, Wojciech W; Tiemann-Boege, Irene I; Dumanski, Jan P JP; Piotrowski, Arkadiusz A
Publication Date: 2022-06-29
Variant appearance in text: RET: 1946C>T; Ser649Leu; rs148935214
Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.
Journal Of Personalized Medicine
Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
Calcitonin-Negative Neuroendocrine Carcinoma of the Thyroid Gland: Case Report and Literature Review.
Case Reports In Oncology
Fernández-Ferreira, Ricardo R; De la Peña-López, Ildefonso Roberto IR; Zamudio-Coronado, Karla Walkiria KW; Delgado-Soler, Luis Antonio LA; Torres-Pérez, María Eugenia ME; Bourlón-de Los Ríos, Christianne C; Cortés-González, Rubén R
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Cancers
Innella, Giovanni G; Rossi, Cesare C; Romagnoli, Maria M; Repaci, Andrea A; Bianchi, Davide D; Cantarini, Maria Elena ME; Martorana, Davide D; Godino, Lea L; Pession, Andrea A; Percesepe, Antonio A; Pagotto, Uberto U; Turchetti, Daniela D
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Academic Pathology
Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD
Kudryavtseva, Anna V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Zaretsky, Andrew R AR; Pokrovsky, Anatoly V AV; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Kharitonov, Sergey L SL; Pavlov, Vladislav S VS; Kobelyatskaya, Anastasiya A AA; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Polyakov, Andrey P AP; Alekseev, Boris Y BY; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Krasnov, George S GS; Snezhkina, Anastasiya V AV
Publication Date: 2019-03-13
Variant appearance in text: RET: 1946C>T; Ser649Leu; rs148935214
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
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
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: RET: S649L; rs148935214
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: RET: 1946C>T; S649L; rs148935214
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
Nature Communications
Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D
Publication Date: 2015-12-03
Variant appearance in text: RET: S649L; rs148935214
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: RET: 1946C>T; Ser649Leu; rs148935214
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14
Variant appearance in text: RET: 1946C>T; Ser649Leu; rs148935214
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: RET: S649L; rs148935214
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
The Journal Of Clinical Endocrinology And Metabolism
Erlic, Zoran Z; Hoffmann, Michael M MM; Sullivan, Maren M; Franke, Gerlind G; Peczkowska, Mariola M; Harsch, Igor I; Schott, Matthias M; Gabbert, Helmut E HE; Valimäki, Matti M; Preuss, Simon F SF; Hasse-Lazar, Kornelia K; Waligorski, Dariusz D; Robledo, Mercedes M; Januszewicz, Andrzej A; Eng, Charis C; Neumann, Hartmut P H HP