KMT2D c.839G>A ;(p.R280K)

Variant ID: 12-49447259-C-T

NM_003482.3(KMT2D):c.839G>A;(p.R280K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: KMT2D: R280K
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: KMT2D: 839G>A; R280K
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: KMT2D: 839G>A; R280K
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.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: KMT2D: Arg280Lys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications
Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA
Publication Date: 2019-07-18

Variant appearance in text: KMT2D: 839G>A; Arg280Lys
PubMed Link: 31320640
Variant Present in the following documents:
  • 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers.

Npj Breast Cancer
Yap, Yoon-Sim YS; Singh, Angad P AP; Lim, John H C JHC; Ahn, Jin-Hee JH; Jung, Kyung-Hae KH; Kim, Jeongeun J; Dent, Rebecca A RA; Ng, Raymond C H RCH; Kim, Sung-Bae SB; Chiang, Derek Y DY
Publication Date: 2018

Variant appearance in text: KMT2D: R280K
PubMed Link: 30062102
Variant Present in the following documents:
  • 41523_2018_70_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Journal Of Hematology & Oncology
Juskevicius, Darius D; Jucker, David D; Klingbiel, Dirk D; Mamot, Christoph C; Dirnhofer, Stephan S; Tzankov, Alexandar A
Publication Date: 2017-03-17

Variant appearance in text: KMT2D: 839G>A; Arg280Lys
PubMed Link: 28302137
Variant Present in the following documents:
  • 13045_2017_438_MOESM1_ESM.xlsx, sheet 3
  • 13045_2017_438_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page