KMT2C c.1017G>C ;(p.K339N)

Variant ID: 7-151962290-C-G

NM_170606.2(KMT2C):c.1017G>C;(p.K339N)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: KMT2C: K339N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn; rs775803041
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Scientific Reports
Jung, Kwangrok K; Lee, Sejoon S; Na, Hee Young HY; Kim, Ji-Won JW; Lee, Jong-Chan JC; Hwang, Jin-Hyeok JH; Kim, Jin Won JW; Kim, Jaihwan J
Publication Date: 2022-12-03

Variant appearance in text: KMT2C: 1017G>C
PubMed Link: 36463295
Variant Present in the following documents:
  • 41598_2022_24732_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: KMT2C: K339N
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Ebiomedicine
Zhang, Xiaoyan X; Yang, Ling L; Lei, Wanjun W; Hou, Qiang Q; Huang, Ming M; Zhou, Rongjing R; Enver, Tariq T; Wu, Shixiu S
Publication Date: 2022-08

Variant appearance in text: KMT2C: K339N
PubMed Link: 35785618
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
  • mmc1.xlsx, sheet 2
View BVdb publication page



Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: MLL3: 1017G>C
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: KMT2C: K339N
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s007.xlsx, sheet 2
  • ADVS-9-2103360-s002.xlsx, sheet 2
View BVdb publication page



Case report: composite pancreatic intraductal papillary mucinous neoplasm and neuroendocrine tumor: a new mixed neuroendocrine-non-neuroendocrine neoplasm?

Diagnostic Pathology
Chen, Jingci J; Wang, Pengyan P; Lv, Ke K; Zhou, Weixun W
Publication Date: 2021-11-20

Variant appearance in text: MLL3: 1017G>C
PubMed Link: 34801052
Variant Present in the following documents:
  • 13000_2021_Article_1165.pdf
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: 1017G>C; Lys339Asn
PubMed Link: 34644276
Variant Present in the following documents:
  • ct9-12-e00403-s007.pdf
View BVdb publication page



Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances
Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK
Publication Date: 2021-10-26

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn; rs775803041
PubMed Link: 34535012
Variant Present in the following documents:
  • advancesADV2021004562-suppl2.xlsx, sheet 8
View BVdb publication page



Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021

Variant appearance in text: KMT2C: 1017G>C; K339N
PubMed Link: 34391887
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021-08-13

Variant appearance in text: KMT2C: 1017G>C; K339N
PubMed Link: 34391887
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn; rs775803041
PubMed Link: 34291583
Variant Present in the following documents:
  • EMMM-13-e12881-s010.xlsx, sheet 1
View BVdb publication page



Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Translational Vision Science & Technology
Rong, Andrew J AJ; Gallo, Ryan A RA; Zhang, Michelle G MG; Doddapaneni, Ravi R; Griswold, Anthony J AJ; Lee, John Y JY; Kurtenbach, Stefan S; Dubovy, Sander R SR; Tse, David T DT; Pelaez, Daniel D
Publication Date: 2021-05-03

Variant appearance in text: KMT2C: K339N; rs775803041
PubMed Link: 34043754
Variant Present in the following documents:
  • tvst-10-6-34_s002.xlsx, sheet 1
  • tvst-10-6-34_s001.xlsx, sheet 1
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: KMT2C: K339N; rs775803041
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component.

Translational Lung Cancer Research
Suzuki, Masaki M; Kasajima, Rika R; Yokose, Tomoyuki T; Ito, Hiroyuki H; Shimizu, Eigo E; Hatakeyama, Seira S; Yokoyama, Kazuaki K; Yamaguchi, Rui R; Furukawa, Yoichi Y; Miyano, Satoru S; Imoto, Seiya S; Yoshioka, Emi E; Washimi, Kota K; Okubo, Yoichiro Y; Kawachi, Kae K; Sato, Shinya S; Miyagi, Yohei Y
Publication Date: 2021-03

Variant appearance in text: KMT2C: K339N
PubMed Link: 33889510
Variant Present in the following documents:
  • tlcr-10-03-1292-supplementary.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: KMT2C: K339N; rs775803041
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: KMT2C: 1017G>C; K339N; rs775803041
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports
Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2021-01-21

Variant appearance in text: KMT2C: K339N
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics
Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA
Publication Date: 2021-01

Variant appearance in text: KMT2C: K339N
PubMed Link: 33444353
Variant Present in the following documents:
  • pgen.1009302.s014.xlsx, sheet 1
View BVdb publication page



Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer.

Cell Reports. Medicine
Roper, Nitin N; Brown, Anna-Leigh AL; Wei, Jun S JS; Pack, Svetlana S; Trindade, Christopher C; Kim, Chul C; Restifo, Olivia O; Gao, Shaojian S; Sindiri, Sivasish S; Mehrabadi, Farid F; El Meskini, Rajaa R; Ohler, Zoe Weaver ZW; Maity, Tapan K TK; Venugopalan, Abhilash A; Cultraro, Constance M CM; Akoth, Elizabeth E; Padiernos, Emerson E; Chen, Haobin H; Kesarwala, Aparna A; Smart, DeeDee K DK; Nilubol, Naris N; Rajan, Arun A; Piotrowska, Zofia Z; Xi, Liqiang L; Raffeld, Mark M; Panchenko, Anna R AR; Sahinalp, Cenk C; Hewitt, Stephen S; Hoang, Chuong D CD; Khan, Javed J; Guha, Udayan U
Publication Date: 2020-04-21

Variant appearance in text: KMT2C: K339N
PubMed Link: 32483558
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: KMT2C: 1017G>C; K339N
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s011.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: KMT2C: 1017G>C; K339N; rs775803041
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.

Journal Of Hematology & Oncology
Sun, Chenggong C; Cao, Wenyu W; Qiu, Chunping C; Li, Chengcheng C; Dongol, Samina S; Zhang, Zhiwei Z; Dong, Ruifen R; Song, Kun K; Yang, Xingsheng X; Zhang, Qing Q; Kong, Beihua B
Publication Date: 2020-01-31

Variant appearance in text: N/A
PubMed Link: 32005272
Variant Present in the following documents:
View BVdb publication page



Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04

Variant appearance in text: KMT2C: K339N
PubMed Link: 31484939
Variant Present in the following documents:
  • 41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Publication Date: 2019-05-16

Variant appearance in text: N/A
PubMed Link: 31097695
Variant Present in the following documents:
View BVdb publication page



Circulating tumor DNA analyses predict progressive disease and indicate trastuzumab-resistant mechanism in advanced gastric cancer.

Ebiomedicine
Wang, Yan Y; Zhao, Chuanhua C; Chang, Lianpeng L; Jia, Ru R; Liu, Rongrui R; Zhang, Yun Y; Gao, Xuan X; Li, Jin J; Chen, Rongrong R; Xia, Xuefeng X; Bulbul, Ajaz A; Husain, Hatim H; Guan, Yanfang Y; Yi, Xin X; Xu, Jianming J
Publication Date: 2019-05

Variant appearance in text: MLL3: 1017G>C
PubMed Link: 31031019
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Difference of molecular alterations in HER2-positive and HER2-negative gastric cancers by whole-genome sequencing analysis.

Cancer Management And Research
Zhou, Chenfei C; Feng, Xiaojing X; Yuan, Fei F; Ji, Jun J; Shi, Min M; Yu, Yingyan Y; Zhu, Zhenggang Z; Zhang, Jun J
Publication Date: 2018

Variant appearance in text: KMT2C: K339N
PubMed Link: 30310315
Variant Present in the following documents:
  • Main text
  • cmar-10-3945.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: KMT2C: 1017G>C; Lys339Asn
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 8
View BVdb publication page



Clinical significance of detecting CSF-derived tumor cells in breast cancer patients with leptomeningeal metastasis.

Oncotarget
Li, Xuelu X; Zhang, Yuan Y; Ding, Jinlei J; Wang, Min M; Li, Na N; Yang, Hui H; Wang, Kainan K; Wang, Dandan D; Lin, Peter Ping PP; Li, Man M; Zhao, Zuowei Z; Liu, Pixu P
Publication Date: 2018-01-05

Variant appearance in text: KMT2C: K339N
PubMed Link: 29416803
Variant Present in the following documents:
  • oncotarget-09-2705-s003.xlsx, sheet 2
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: MLL3: 1017G>C; rs775803041
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
Publication Date: 2016-11-22

Variant appearance in text: KMT2C: K339N
PubMed Link: 27791198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Fusco, Nicola N; Geyer, Felipe C FC; De Filippo, Maria R MR; Martelotto, Luciano G LG; Ng, Charlotte K Y CK; Piscuoglio, Salvatore S; Guerini-Rocco, Elena E; Schultheis, Anne M AM; Fuhrmann, Laetitia L; Wang, Lu L; Jungbluth, Achim A AA; Burke, Kathleen A KA; Lim, Raymond S RS; Vincent-Salomon, Anne A; Bamba, Masamichi M; Moritani, Suzuko S; Badve, Sunil S SS; Ichihara, Shu S; Ellis, Ian O IO; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2016-11

Variant appearance in text: KMT2C: K339N
PubMed Link: 27491809
Variant Present in the following documents:
  • Main text
  • nihms791815.pdf
View BVdb publication page



Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Plos One
Lu, You-Wang YW; Zhang, Hui-Feng HF; Liang, Rui R; Xie, Zhen-Rong ZR; Luo, Hua-You HY; Zeng, Yu-Jian YJ; Xu, Yu Y; Wang, La-Mei LM; Kong, Xiang-Yang XY; Wang, Kun-Hua KH
Publication Date: 2016

Variant appearance in text: KMT2C: K339N
PubMed Link: 27023146
Variant Present in the following documents:
  • Main text
  • pone.0152673.s002.xlsx, sheet 5
  • pone.0152673.pdf
  • pone.0152673.s002.xlsx, sheet 9
  • pone.0152673.s002.xlsx, sheet 8
  • pone.0152673.s002.xlsx, sheet 7
  • pone.0152673.s002.xlsx, sheet 10
  • pone.0152673.s002.xlsx, sheet 6
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