KMT2C c.10519C>T ;(p.R3507*)

Variant ID: 7-151860143-G-A

NM_170606.2(KMT2C):c.10519C>T;(p.R3507*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
Publication Date: 2022-06-03

Variant appearance in text: KMT2C: 10519C>T; Arg3507X; rs747835958
PubMed Link: 35655252
Variant Present in the following documents:
  • 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr
Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S
Publication Date: 2022-07-06

Variant appearance in text: KMT2C: 10519C>T; R3507*
PubMed Link: 35452513
Variant Present in the following documents:
  • mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: KMT2C: R3507*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
View BVdb publication page



Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics
Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR
Publication Date: 2021-10

Variant appearance in text: KMT2C: R3507*
PubMed Link: 34594041
Variant Present in the following documents:
  • 41588_2021_930_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics
Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR
Publication Date: 2021-10

Variant appearance in text: KMT2C: R3507*
PubMed Link: 34594041
Variant Present in the following documents:
  • 41588_2021_930_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: KMT2C: R3507*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Identification of Mutations Related to Cisplatin-Resistance and Prognosis of Patients With Lung Adenocarcinoma.

Frontiers In Pharmacology
Li, Rui R; Liu, Junfang J; Fang, Zekui Z; Liang, Zhenyu Z; Chen, Xin X
Publication Date: 2020

Variant appearance in text: KMT2C: 10519C>T; R3507*
PubMed Link: 33192515
Variant Present in the following documents:
  • Table3_v1.xls, sheet 1
View BVdb publication page



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: 10519C>T; R3507X
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: KMT2C: R3507X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: KMT2C: R3507*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KMT2C: 10519C>T; R3507*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: KMT2C: R3507*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2019-11

Variant appearance in text: KMT2C: Arg3507*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer.

Genomics & Informatics
Park, Jong-Lyul JL; Kim, Seon-Kyu SK; Kim, Jeong-Hwan JH; Yun, Seok Joong SJ; Kim, Wun-Jae WJ; Kim, Won Tae WT; Jeong, Pildu P; Kang, Ho Won HW; Kim, Seon-Young SY
Publication Date: 2018-09

Variant appearance in text: KMT2C: R3507X
PubMed Link: 30309206
Variant Present in the following documents:
  • gi-2018-16-3-71.pdf
View BVdb publication page