KMT2C c.926C>T ;(p.P309L)

Variant ID: 7-151970876-G-A

NM_170606.2(KMT2C):c.926C>T;(p.P309L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature Genetics
Körber, Verena V; Stainczyk, Sabine A SA; Kurilov, Roma R; Henrich, Kai-Oliver KO; Hero, Barbara B; Brors, Benedikt B; Westermann, Frank F; Höfer, Thomas T
Publication Date: 2023-03-27

Variant appearance in text: KMT2C: P309L
PubMed Link: 36973454
Variant Present in the following documents:
  • 41588_2023_1332_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: MLL3: P309L
PubMed Link: 34367342
Variant Present in the following documents:
  • sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1
View BVdb publication page



A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Publication Date: 2021-04

Variant appearance in text: KMT2C: P309L
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma.

International Journal Of Cancer
Bellini, Angela A; Bessoltane-Bentahar, Nadia N; Bhalshankar, Jaydutt J; Clement, Nathalie N; Raynal, Virginie V; Baulande, Sylvain S; Bernard, Virginie V; Danzon, Adrien A; Chicard, Mathieu M; Colmet-Daage, Léo L; Pierron, Gaelle G; Le Roux, Laura L; Planchon, Julien M JM; Combaret, Valérie V; Lapouble, Eve E; Corradini, Nadège N; Thebaud, Estelle E; Gambart, Marion M; Valteau-Couanet, Dominique D; Michon, Jean J; Louis-Brennetot, Caroline C; Janoueix-Lerosey, Isabelle I; Defachelles, Anne-Sophie AS; Bourdeaut, Franck F; Delattre, Olivier O; Schleiermacher, Gudrun G
Publication Date: 2019-11-15

Variant appearance in text: MLL3: P309L
PubMed Link: 31018240
Variant Present in the following documents:
  • Main text
  • IJC-145-2781.pdf
View BVdb publication page



Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia
Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: KMT2C: 926C>T; P309L
PubMed Link: 28804123
Variant Present in the following documents:
  • leu2017251x2.xlsx, sheet 4
  • leu2017251x2.xlsx, sheet 3
View BVdb publication page



Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine
Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM
Publication Date: 2017-04-19

Variant appearance in text: MLL3: P309L
PubMed Link: 28420421
Variant Present in the following documents:
  • 13073_2017_424_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Profiling of a Large Set of Diverse Pediatric Cancers Identifies Known and Novel Mutations across Tumor Spectra.

Cancer Research
Chmielecki, Juliann J; Bailey, Mark M; He, Jie J; Elvin, Julia J; Vergilio, Jo-Anne JA; Ramkissoon, Shakti S; Suh, James J; Frampton, Garrett M GM; Sun, James X JX; Morley, Samantha S; Spritz, Daniel D; Ali, Siraj S; Gay, Laurie L; Erlich, Rachel L RL; Ross, Jeffrey S JS; Buxhaku, Joana J; Davies, Hilary H; Faso, Vinny V; Germain, Alexis A; Glanville, Blair B; Miller, Vincent A VA; Stephens, Philip J PJ; Janeway, Katherine A KA; Maris, John M JM; Meshinchi, Soheil S; Pugh, Trevor J TJ; Shern, Jack F JF; Lipson, Doron D
Publication Date: 2017-01-15

Variant appearance in text: MLL3: P309L
PubMed Link: 28069802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: MLL3: 926C>T
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page