KMT2D c.8704C>T ;(p.Q2902*)

Variant ID: 12-49432435-G-A

NM_003482.3(KMT2D):c.8704C>T;(p.Q2902*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: KMT2D: Q2902X
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Cancer Science
Liu, Ruiqi R; Niu, Yanling Y; Liu, Chao C; Zhang, Xin X; Zhang, Jinku J; Shi, Min M; Zou, Wenbo W; Gu, Binbin B; Zhu, Honglin H; Wang, Danhua D; Yuan, Hongling H; Li, Wei W; Zhao, Dandan D; Zheng, Qiaosong Q; Liu, Rong R; Chen, Weiping W; Ma, Tonghui T; Zhang, Yanqiao Y
Publication Date: 2023-01-05

Variant appearance in text: KMT2D: 8704C>T; Gln2902Ter
PubMed Link: 36601880
Variant Present in the following documents:
  • CAS-114-1229-s004.xlsx, sheet 2
View BVdb publication page



Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.

Frontiers In Oncology
Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2020

Variant appearance in text: KMT2D: Q2902*
PubMed Link: 32984035
Variant Present in the following documents:
  • Main text
  • fonc-10-01643.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: KMT2D: 8704C>T; Gln2902Ter
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: KMT2D: 8704C>T; Gln2902*
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.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: Gln2902*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profile of urine has high diagnostic sensitivity compared to cytology in non-invasive urothelial bladder cancer.

Cancer Science
Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Daimon, Hironori H; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-10

Variant appearance in text: KMT2D: Q2902*
PubMed Link: 31368627
Variant Present in the following documents:
  • CAS-110-3235.pdf
View BVdb publication page