Publications:

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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: 2917A>G; R973G; rs60244562

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of primary synchronous breast invasive ductal carcinoma and lung adenocarcinoma with next-generation sequencing: A case report.

Oncology Letters

Wu, Di D; Yu, Jinyu J; Guo, Liang L; Wei, Xiaofei X; Tian, Zhuang Z; Duan, Xiumei X

Publication Date: 2023-01

Variant appearance in text: KMT2C: 2917A>G; R973G

PubMed Link: 36478904

Variant Present in the following documents:

• ol-25-01-13604.pdf

View BVdb publication page

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KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review.

Frontiers In Medicine

Wang, Xinpei X; Wang, Qianqian Q; Su, Peng P; Chen, Chunyan C; Han, Bo B; Liu, Zhiyan Z

Publication Date: 2022

Variant appearance in text: KMT2C: R973G

PubMed Link: 36425109

Variant Present in the following documents:

• fmed-09-1030888.pdf

View BVdb publication page

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: KMT2C: 2917A>G; R973G

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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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: 2917A>G

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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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: 2917A>G; Arg973Gly

PubMed Link: 34644276

Variant Present in the following documents:

• ct9-12-e00403-s007.pdf

View BVdb publication page

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Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Cancers

Nemtsova, Marina V MV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Bure, Irina V IV; Alekseeva, Ekaterina A EA; Bykov, Igor I II; Khorobrykh, Tatiana V TV; Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Strelnikov, Vladimir V VV

Publication Date: 2021-09-13

Variant appearance in text: KMT2C: R973G; rs60244562

PubMed Link: 34572812

Variant Present in the following documents:

• Main text
• cancers-13-04586.pdf

View BVdb publication page

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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: R973G; rs60244562

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Respiratory Research

Chang, Ya-Sian YS; Tu, Siang-Jyun SJ; Chen, Yu-Chia YC; Liu, Ting-Yuan TY; Lee, Ya-Ting YT; Yen, Ju-Chen JC; Fang, Hsin-Yuan HY; Chang, Jan-Gowth JG

Publication Date: 2021-01-06

Variant appearance in text: KMT2C: 2917A>G; R973G; rs60244562

PubMed Link: 33407425

Variant Present in the following documents:

• 12931_2020_1608_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: KMT2C: Arg973Gly

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

Bmc Medical Genomics

López-Cortés, Andrés A; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Echeverría, Byron Albuja BA; Guerrero, Santiago S; Cabascango, Eliana E; Pérez-Villa, Andy A; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Yumiceba, Verónica V; Pérez-M, Gabriela G; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-17

Variant appearance in text: KMT2C: 2917A>G; Arg973Gly

PubMed Link: 32807182

Variant Present in the following documents:

• 12920_2020_764_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: KMT2C: 2917A>G; R973G; rs60244562

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: KMT2C: 2917A>G; R973G

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Hepatoid adenocarcinoma of the stomach: a unique subgroup with distinct clinicopathological and molecular features.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Wang, Yakun Y; Sun, Li L; Li, Zhongwu Z; Gao, Jing J; Ge, Sai S; Zhang, Cheng C; Yuan, Jiajia J; Wang, Xicheng X; Li, Jian J; Lu, Zhihao Z; Gong, Jifang J; Lu, Ming M; Zhou, Jun J; Peng, Zhi Z; Shen, Lin L; Zhang, Xiaotian X

Publication Date: 2019-11

Variant appearance in text: KMT2C: R973G; rs60244562

PubMed Link: 30989433

Variant Present in the following documents:

• 10120_2019_965_MOESM3_ESM.xlsx, sheet 2
• 10120_2019_965_MOESM3_ESM.xlsx, sheet 3
• 10120_2019_965_MOESM3_ESM.xlsx, sheet 1
• 10120_2019_965_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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: 2917A>G; Arg973Gly

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MLL3: 2917A>G

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 19

View BVdb publication page

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Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Oncotarget

Chiappetta, Caterina C; Mancini, Massimiliano M; Lessi, Francesca F; Aretini, Paolo P; De Gregorio, Veronica V; Puggioni, Chiara C; Carletti, Raffaella R; Petrozza, Vincenzo V; Civita, Prospero P; Franceschi, Sara S; Naccarato, Antonio G AG; Rocca, Carlo Della CD; Mazzanti, Chiara M CM; Di Cristofano, Claudio C

Publication Date: 2017-10-06

Variant appearance in text: KMT2C: 2917A>G; Arg973Gly

PubMed Link: 29113313

Variant Present in the following documents:

• Main text
• oncotarget-08-80416.pdf

View BVdb publication page

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: MLL3: R973G; rs60244562

PubMed Link: 26670335

Variant Present in the following documents:

• pone.0144528.s005.xlsx, sheet 1

View BVdb publication page

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