KMT2C c.5068A>C ;(p.R1690=)

Variant ID: 7-151882657-T-G

NM_170606.2(KMT2C):c.5068A>C;(p.R1690=)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Integrative multi-omics and drug-response characterization of patient-derived prostate cancer primary cells.

Signal Transduction And Targeted Therapy
Wang, Ziruoyu Z; Li, Yanan Y; Zhao, Wensi W; Jiang, Shuai S; Huang, Yuqi Y; Hou, Jun J; Zhang, Xuelu X; Zhai, Zhaoyu Z; Yang, Chen C; Wang, Jiaqi J; Zhu, Jiying J; Pan, Jianbo J; Jiang, Wei W; Li, Zengxia Z; Ye, Mingliang M; Tan, Minjia M; Jiang, Haowen H; Dang, Yongjun Y
Publication Date: 2023-05-01

Variant appearance in text: KMT2C: Arg1690Arg
PubMed Link: 37121942
Variant Present in the following documents:
  • 41392_2023_1393_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications
Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C
Publication Date: 2022-12-05

Variant appearance in text: KMT2C: R1690=; rs78697077
PubMed Link: 36470859
Variant Present in the following documents:
  • 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.

Clinical And Translational Gastroenterology
Varkalaite, Greta G; Forster, Michael M; Franke, Andre A; Kupcinskas, Juozas J; Skieceviciene, Jurgita J
Publication Date: 2021-09-24

Variant appearance in text: KMT2C: 5068A>C; Arg1690Arg
PubMed Link: 34644276
Variant Present in the following documents:
  • ct9-12-e00403-s007.pdf
View BVdb publication page



Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology
Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT
Publication Date: 2021

Variant appearance in text: KMT2C: R1690R
PubMed Link: 34336686
Variant Present in the following documents:
  • Table_1.xlsx, sheet 8
View BVdb publication page



2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Bmc Bioinformatics
Wang, Yunfeng Y; Xue, Haoliang H; Pourcel, Christine C; Du, Yang Y; Gautheret, Daniel D
Publication Date: 2021-06-05

Variant appearance in text: KMT2C: R1690R
PubMed Link: 34090332
Variant Present in the following documents:
  • 12859_2021_4185_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Experimental and bioinformatics considerations in cancer application of single cell genomics.

Computational And Structural Biotechnology Journal
Tan, Joanna Hui Juan JHJ; Kong, Say Li SL; Tai, Joyce A JA; Poh, Huay Mei HM; Yao, Fei F; Sia, Yee Yen YY; Lim, Edwin Kok Hao EKH; Takano, Angela Maria AM; Tan, Daniel Shao-Weng DS; Javed, Asif A; Hillmer, Axel M AM
Publication Date: 2021

Variant appearance in text: KMT2C: R1690R; rs78697077
PubMed Link: 33489004
Variant Present in the following documents:
  • mmc3.xlsx, sheet 12
  • mmc4.xlsx, sheet 12
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: KMT2C: R1690R
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.

Molecular Medicine (Cambridge, Mass.)
Saha, Gourab G; Singh, Richa R; Mandal, Argha A; Das, Subrata S; Chattopadhyay, Esita E; Panja, Prasun P; Roy, Paromita P; DeSarkar, Navonil N; Gulati, Sumit S; Ghatak, Supriyo S; Ghosh, Shibajyoti S; Banerjee, Sudeep S; Roy, Bidyut B; Ghosh, Saurabh S; Chaudhuri, Dipankar D; Arora, Neeraj N; Biswas, Nidhan K NK; Sikdar, Nilabja N
Publication Date: 2020-06-17

Variant appearance in text: KMT2C: R1690R
PubMed Link: 32552660
Variant Present in the following documents:
  • 10020_2020_183_MOESM6_ESM.xlsx, sheet 1
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: KMT2C: 5068A>C; Arg1690Arg
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MLL3: 5068A>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: MLL3: 5068A>C; rs78697077
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: KMT2C: R1690R
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: MLL3: 5068A>C; R1690R; rs78697077
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: MLL3: 5068A>C; R1690R; rs78697077
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
View BVdb publication page