Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: KMT2D: 7670C>T; P2557L; rs189888707
PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.
Nature Communications
Giuliani, Virginia V; Miller, Meredith A MA; Liu, Chiu-Yi CY; Hartono, Stella R SR; Class, Caleb A CA; Bristow, Christopher A CA; Suzuki, Erika E; Sanz, Lionel A LA; Gao, Guang G; Gay, Jason P JP; Feng, Ningping N; Rose, Johnathon L JL; Tomihara, Hideo H; Daniele, Joseph R JR; Peoples, Michael D MD; Bardenhagen, Jennifer P JP; Geck Do, Mary K MK; Chang, Qing E QE; Vangamudi, Bhavatarini B; Vellano, Christopher C; Ying, Haoqiang H; Deem, Angela K AK; Do, Kim-Anh KA; Genovese, Giannicola G; Marszalek, Joseph R JR; Kovacs, Jeffrey J JJ; Kim, Michael M; Fleming, Jason B JB; Guccione, Ernesto E; Viale, Andrea A; Maitra, Anirban A; Emilia Di Francesco, M M; Yap, Timothy A TA; Jones, Philip P; Draetta, Giulio G; Carugo, Alessandro A; Chedin, Frederic F; Heffernan, Timothy P TP
Publication Date: 2021-07-30
Variant appearance in text: KMT2D: 7670C>T; P2557L
The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.
Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H
Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu; rs189888707
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: KMT2D: P2557L; rs189888707
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.
Genome Biology
Jiang, Yanwen Y; Redmond, David D; Nie, Kui K; Eng, Ken W KW; Clozel, Thomas T; Martin, Peter P; Tan, Leonard Hc LH; Melnick, Ari M AM; Tam, Wayne W; Elemento, Olivier O
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