Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25
Variant appearance in text: KMT2C: 8390del; K2797fs
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07
Variant appearance in text: KMT2C: 8390delA; K2797fs
Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.
Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways.
Cold Spring Harbor Molecular Case Studies
Lavoie, Jean-Michel JM; Csizmok, Veronika V; Williamson, Laura M LM; Culibrk, Luka L; Wang, Gang G; Marra, Marco A MA; Laskin, Janessa J; Jones, Steven J M SJM; Renouf, Daniel J DJ; Kollmannsberger, Christian K CK
Publication Date: 2022-04
Variant appearance in text: KMT2C: 8390delA; Lys2797fs
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11
Variant appearance in text: KMT2C: 8390delA; K2797fs
RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.
Leukemia
Adnan Awad, Shady S; Dufva, Olli O; Ianevski, Aleksandr A; Ghimire, Bishwa B; Koski, Jan J; Maliniemi, Pilvi P; Thomson, Daniel D; Schreiber, Andreas A; Heckman, Caroline A CA; Koskenvesa, Perttu P; Korhonen, Matti M; Porkka, Kimmo K; Branford, Susan S; Aittokallio, Tero T; Kankainen, Matti M; Mustjoki, Satu S
Publication Date: 2021-04
Variant appearance in text: KMT2C: 8390delA; K2797fs
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
CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.
Jco Precision Oncology
Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: KMT2C: 8390delA; Lys2797fs
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Nature Communications
Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N
Publication Date: 2019-10-17
Variant appearance in text: KMT2C: 8390delA; K2797fs*26
Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.
Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Publication Date: 2019-05-16
Variant appearance in text: KMT2C: 8390delA; K2797fs
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: KMT2C: 8390delA; Lys2797fs
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Nature Communications
Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S
Publication Date: 2018-04-19
Variant appearance in text: KMT2C: 8390delA; K2797fs
Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.
Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Nature Communications
Chudasama, Priya P; Mughal, Sadaf S SS; Sanders, Mathijs A MA; Hübschmann, Daniel D; Chung, Inn I; Deeg, Katharina I KI; Wong, Siao-Han SH; Rabe, Sophie S; Hlevnjak, Mario M; Zapatka, Marc M; Ernst, Aurélie A; Kleinheinz, Kortine K; Schlesner, Matthias M; Sieverling, Lina L; Klink, Barbara B; Schröck, Evelin E; Hoogenboezem, Remco M RM; Kasper, Bernd B; Heilig, Christoph E CE; Egerer, Gerlinde G; Wolf, Stephan S; von Kalle, Christof C; Eils, Roland R; Stenzinger, Albrecht A; Weichert, Wilko W; Glimm, Hanno H; Gröschel, Stefan S; Kopp, Hans-Georg HG; Omlor, Georg G; Lehner, Burkhard B; Bauer, Sebastian S; Schimmack, Simon S; Ulrich, Alexis A; Mechtersheimer, Gunhild G; Rippe, Karsten K; Brors, Benedikt B; Hutter, Barbara B; Renner, Marcus M; Hohenberger, Peter P; Scholl, Claudia C; Fröhling, Stefan S
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12
Variant appearance in text: KMT2C: 8390delA; Lys2797fs
Genomic Evolution of Breast Cancer Metastasis and Relapse.
Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
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
Publication Date: 2017-08-04
Variant appearance in text: KMT2C: 8390_8390delA; K2797fs*26
The whole-genome landscape of medulloblastoma subtypes.
Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19
Variant appearance in text: KMT2C: 8390delA; K2797fs
Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R
Publication Date: 2017
Variant appearance in text: KMT2C: 8390delA; K2797fs
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24
Variant appearance in text: KMT2C: 8390delA; K2797fs
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
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
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Gut
Yu, Jun J; Wu, William K K WK; Li, Xiangchun X; He, Jun J; Li, Xiao-Xing XX; Ng, Simon S M SS; Yu, Chang C; Gao, Zhibo Z; Yang, Jie J; Li, Miao M; Wang, Qiaoxiu Q; Liang, Qiaoyi Q; Pan, Yi Y; Tong, Joanna H JH; To, Ka F KF; Wong, Nathalie N; Zhang, Ning N; Chen, Jie J; Lu, Youyong Y; Lai, Paul B S PB; Chan, Francis K L FK; Li, Yingrui Y; Kung, Hsiang-Fu HF; Yang, Huanming H; Wang, Jun J; Sung, Joseph J Y JJ