Publications:

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Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology

Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F

Publication Date: 2023

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 37181548

Variant Present in the following documents:

• Main text
• fneur-14-1148848.pdf
• Data_Sheet_2.xlsx, sheet 4

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: D348N

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation

Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M

Publication Date: 2023-03-16

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 36928090

Variant Present in the following documents:

• jci-133-164413-s196.xlsx, sheet 1

View BVdb publication page

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Whole-genome doubling drives oncogenic loss of chromatin segregation.

Nature

Lambuta, Ruxandra A RA; Nanni, Luca L; Liu, Yuanlong Y; Diaz-Miyar, Juan J; Iyer, Arvind A; Tavernari, Daniele D; Katanayeva, Natalya N; Ciriello, Giovanni G; Oricchio, Elisa E

Publication Date: 2023-03-15

Variant appearance in text: KMT2C: 1042G>A; D348N; rs201834857

PubMed Link: 36922594

Variant Present in the following documents:

• 41586_2023_5794_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1042G>A; D348N; rs201834857

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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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: KMT2C: 1042G>A; D348N; rs201834857

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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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: D348N

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications

Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S

Publication Date: 2022-10-10

Variant appearance in text: MLL3: D348N; rs201834857

PubMed Link: 36216793

Variant Present in the following documents:

• 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.

Npj Genomic Medicine

Jeong, Nahyun N; Kim, Soon-Chan SC; Park, Ji Won JW; Park, Seul Gi SG; Nam, Ki-Hoan KH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Jeong, Seung-Yong SY; Kim, Min Jung MJ; Ku, Ja-Lok JL

Publication Date: 2022-07-19

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn

PubMed Link: 35853873

Variant Present in the following documents:

• 41525_2022_313_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.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: 1042G>A

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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Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Scientific Reports

Tsukahara, Shigehiro S; Shiota, Masaki M; Takamatsu, Dai D; Nagakawa, Shohei S; Matsumoto, Takashi T; Kiyokoba, Ryo R; Yagi, Mikako M; Setoyama, Daiki D; Noda, Nozomi N; Matsumoto, Shinya S; Hayashi, Tetsutaro T; Contreras-Sanz, Alberto A; Black, Peter C PC; Inokuchi, Junichi J; Kohashi, Kenichi K; Oda, Yoshinao Y; Uchiumi, Takeshi T; Eto, Masatoshi M; Kang, Dongchon D

Publication Date: 2022-05-20

Variant appearance in text: KMT2C: Asp348Asn

PubMed Link: 35595780

Variant Present in the following documents:

• 41598_2022_12528_MOESM2_ESM.pdf

View BVdb publication page

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: KMT2C: D348N

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology

Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A

Publication Date: 2022

Variant appearance in text: KMT2C: 1042G>A; D348N; rs201834857

PubMed Link: 35419288

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Association of KMT2C Genetic Variants with the Clinicopathologic Development of Oral Cancer.

International Journal Of Environmental Research And Public Health

Shieu, Mu-Kuei MK; Ho, Hsin-Yu HY; Lin, Shu-Hui SH; Lo, Yu-Sheng YS; Lin, Chia-Chieh CC; Chuang, Yi-Ching YC; Hsieh, Ming-Ju MJ; Chen, Mu-Kuan MK

Publication Date: 2022-03-27

Variant appearance in text: rs201834857

PubMed Link: 35409657

Variant Present in the following documents:

• Main text
• ijerph-19-03974.pdf

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KMT2C: 1042G>A; D348N; rs201834857

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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Radiation therapy enhances immunotherapy response in microsatellite stable colorectal and pancreatic adenocarcinoma in a phase II trial.

Nature Cancer

Parikh, Aparna R AR; Szabolcs, Annamaria A; Allen, Jill N JN; Clark, Jeffrey W JW; Wo, Jennifer Y JY; Raabe, Michael M; Thel, Hannah H; Hoyos, David D; Mehta, Arnav A; Arshad, Sanya S; Lieb, David J DJ; Drapek, Lorraine C LC; Blaszkowsky, Lawrence S LS; Giantonio, Bruce J BJ; Weekes, Colin D CD; Zhu, Andrew X AX; Goyal, Lipika L; Nipp, Ryan D RD; Dubois, Jon S JS; Van Seventer, Emily E EE; Foreman, Bronwen E BE; Matlack, Lauren E LE; Ly, Leilana L; Meurer, Jessica A JA; Hacohen, Nir N; Ryan, David P DP; Yeap, Beow Y BY; Corcoran, Ryan B RB; Greenbaum, Benjamin D BD; Ting, David T DT; Hong, Theodore S TS

Publication Date: 2021-11

Variant appearance in text: KMT2C: D348N

PubMed Link: 35122060

Variant Present in the following documents:

• NIHMS1740920-supplement-Supplementary_Tables.pdf

View BVdb publication page

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Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Blood Cancer Journal

Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN

Publication Date: 2022-01-11

Variant appearance in text: KMT2C: D348N

PubMed Link: 35017466

Variant Present in the following documents:

• 41408_2021_603_MOESM1_ESM.pdf

View BVdb publication page

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Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Blood Cancer Journal

Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN

Publication Date: 2022-01-11

Variant appearance in text: KMT2C: D348N

PubMed Link: 35017466

Variant Present in the following documents:

• 41408_2021_603_MOESM1_ESM.pdf

View BVdb publication page

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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: 1042G>A; D348N

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s002.xlsx, sheet 2
• ADVS-9-2103360-s007.xlsx, sheet 2

View BVdb publication page

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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: 1042G>A

PubMed Link: 34801052

Variant Present in the following documents:

• 13000_2021_Article_1165.pdf

View BVdb publication page

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Utility of exome sequencing in routine care for metastatic colorectal cancer.

Molecular And Clinical Oncology

D'Agay, Melchior De Giraud MG; Galland, Loïck L; Tharin, Zoe Z; Truntzer, Caroline C; Ghiringhelli, Francois F

Publication Date: 2021-11

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn

PubMed Link: 34631054

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches.

Frontiers In Cell And Developmental Biology

Laprovitera, Noemi N; Salamon, Irene I; Gelsomino, Francesco F; Porcellini, Elisa E; Riefolo, Mattia M; Garonzi, Marianna M; Tononi, Paola P; Valente, Sabrina S; Sabbioni, Silvia S; Fontana, Francesca F; Manaresi, Nicolò N; D'Errico, Antonia A; Pantaleo, Maria A MA; Ardizzoni, Andrea A; Ferracin, Manuela M

Publication Date: 2021

Variant appearance in text: KMT2C: D348N

PubMed Link: 34178989

Variant Present in the following documents:

• Main text
• fcell-09-666156.pdf

View BVdb publication page

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Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications

Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX

Publication Date: 2021-05-24

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 34031426

Variant Present in the following documents:

• 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1

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: D348N; rs201834857

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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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: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.

Cancer Science

Nakamura, Ikuko Takeda IT; Ikegami, Masachika M; Hasegawa, Nobuhiko N; Hayashi, Takuo T; Ueno, Toshihide T; Kawazu, Masahito M; Yagishita, Shigehiro S; Goto, Yasushi Y; Shinno, Yuki Y; Kojima, Yuki Y; Takamochi, Kazuya K; Takahashi, Fumiyuki F; Takahashi, Kazuhisa K; Mano, Hiroyuki H; Kohsaka, Shinji S

Publication Date: 2021-05

Variant appearance in text: KMT2C: D348N

PubMed Link: 33484069

Variant Present in the following documents:

• Main text
• CAS-112-2006.pdf

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 17
• CTM2-11-e285-s003.xlsx, sheet 18

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Theranostics

Tang, Jing J; Sui, Cheng-Jun CJ; Wang, Dong-Fang DF; Lu, Xin-Yuan XY; Luo, Gui-Juan GJ; Zhao, Qing Q; Lian, Qiu-Yu QY; Jeong, Seogsong S; Lin, Xi-Meng XM; Zhu, Yan-Jing YJ; Zheng, Bo B; Wu, Rui R; Wang, Qing Q; Liu, Xiao-Long XL; Liu, Jing-Feng JF; Xia, Qiang Q; Wu, Gang G; Gu, Jin J; Wang, Hong-Yang HY; Chen, Lei L

Publication Date: 2020

Variant appearance in text: KMT2C: D348N

PubMed Link: 32373219

Variant Present in the following documents:

• thnov10p5384s2.xlsx, sheet 4

View BVdb publication page

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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget

Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2020-04-07

Variant appearance in text: KMT2C: 1042G>A; Asp348Asn

PubMed Link: 32292574

Variant Present in the following documents:

• oncotarget-11-1244-s005.xlsx, sheet 1

View BVdb publication page

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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: 1042G>A; D348N; rs201834857

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KMT2C: 1042G>A; D348N

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine

Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O

Publication Date: 2019-12

Variant appearance in text: KMT2C: D348N

PubMed Link: 31768065

Variant Present in the following documents:

• NIHMS1541330-supplement-1.pdf

View BVdb publication page

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Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications

Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N

Publication Date: 2019-10-17

Variant appearance in text: KMT2C: 1042G>A; D348N

PubMed Link: 31624251

Variant Present in the following documents:

• 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association

Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J

Publication Date: 2019-09-17

Variant appearance in text: rs201834857

PubMed Link: 31510873

Variant Present in the following documents:

• JAH3-8-e012875-s001.pdf
• JAH3-8-e012875.pdf

View BVdb publication page

---

Genetic variants and clinical significance of pediatric acute lymphoblastic leukemia.

Annals Of Translational Medicine

Zhang, Hong-Hong HH; Wang, Hong-Sheng HS; Qian, Xiao-Wen XW; Fan, Cui-Qing CQ; Li, Jun J; Miao, Hui H; Zhu, Xiao-Hua XH; Yu, Yi Y; Meng, Jian-Hua JH; Cao, Ping P; Le, Jun J; Jiang, Jun-Ye JY; Jiang, Wen-Jing WJ; Wang, Ping P; Zhai, Xiao-Wen XW

Publication Date: 2019-07

Variant appearance in text: MLL3: D348N; rs201834857

PubMed Link: 31475166

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KMT2C: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 31320640

Variant Present in the following documents:

• 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: MLL3: 1042G>A; rs201834857

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Genomic distinctions between metastatic lower and upper tract urothelial carcinoma revealed through rapid autopsy.

Jci Insight

Winters, Brian R BR; De Sarkar, Navonil N; Arora, Sonali S; Bolouri, Hamid H; Jana, Sujata S; Vakar-Lopez, Funda F; Cheng, Heather H HH; Schweizer, Michael T MT; Yu, Evan Y EY; Grivas, Petros P; Lee, John K JK; Kollath, Lori L; Holt, Sarah K SK; McFerrin, Lisa L; Ha, Gavin G; Nelson, Peter S PS; Montgomery, Robert B RB; Wright, Jonathan L JL; Lam, Hung-Ming HM; Hsieh, Andrew C AC

Publication Date: 2019-05-30

Variant appearance in text: KMT2C: D348N

PubMed Link: 31145100

Variant Present in the following documents:

• Main text

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: 1042G>A; Asp348Asn

PubMed Link: 30981987

Variant Present in the following documents:

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

View BVdb publication page

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Comparative sequence analysis of patient-matched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy.

Bmc Cancer

Harada, Kazuaki K; Okamoto, Wataru W; Mimaki, Sachiyo S; Kawamoto, Yasuyuki Y; Bando, Hideaki H; Yamashita, Riu R; Yuki, Satoshi S; Yoshino, Takayuki T; Komatsu, Yoshito Y; Ohtsu, Atsushi A; Sakamoto, Naoya N; Tsuchihara, Katsuya K

Publication Date: 2019-03-21

Variant appearance in text: MLL3: D348N

PubMed Link: 30898102

Variant Present in the following documents:

• 12885_2019_5479_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Nature Communications

Shen, Ying Y; Zhang, Feng F; Li, Fuping F; Jiang, Xiaohui X; Yang, Yihong Y; Li, Xiaoliang X; Li, Weiyu W; Wang, Xiang X; Cheng, Juan J; Liu, Mohan M; Zhang, Xueguang X; Yuan, Guiping G; Pei, Xue X; Cai, Kailai K; Hu, Fengyun F; Sun, Jianfeng J; Yan, Lanzhen L; Tang, Li L; Jiang, Chuan C; Tu, Wenling W; Xu, Jinyan J; Wu, Haojuan H; Kong, Weiqi W; Li, Shuying S; Wang, Ke K; Sheng, Kai K; Zhao, Xudong X; Yue, Huanxun H; Yang, Xiaoyu X; Xu, Wenming W

Publication Date: 2019-01-25

Variant appearance in text: MLL3: D348N

PubMed Link: 30683861

Variant Present in the following documents:

• 41467_2018_8182_MOESM10_ESM.xls, sheet 1

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: 1042G>A; D348N

PubMed Link: 30310315

Variant Present in the following documents:

• Main text
• cmar-10-3945.pdf

View BVdb publication page

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KMT2C Mutations in Diffuse-Type Gastric Adenocarcinoma Promote Epithelial-to-Mesenchymal Transition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Cho, Soo-Jeong SJ; Yoon, Changhwan C; Lee, Jun Ho JH; Chang, Kevin K KK; Lin, Jian-Xian JX; Kim, Young-Ho YH; Kook, Myeong-Cherl MC; Aksoy, Bülent Arman BA; Park, Do Joong DJ; Ashktorab, Hassan H; Smoot, Duane T DT; Schultz, Nikolaus N; Yoon, Sam S SS

Publication Date: 2018-12-15

Variant appearance in text: KMT2C: D348N

PubMed Link: 30108106

Variant Present in the following documents:

• Main text

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: 1042G>A; Asp348Asn; rs201834857

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 8
• bty518_supplementary_data_s7.xlsx, sheet 2

View BVdb publication page

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The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Nature Communications

Diplas, Bill H BH; He, Xujun X; Brosnan-Cashman, Jacqueline A JA; Liu, Heng H; Chen, Lee H LH; Wang, Zhaohui Z; Moure, Casey J CJ; Killela, Patrick J PJ; Loriaux, Daniel B DB; Lipp, Eric S ES; Greer, Paula K PK; Yang, Rui R; Rizzo, Anthony J AJ; Rodriguez, Fausto J FJ; Friedman, Allan H AH; Friedman, Henry S HS; Wang, Sizhen S; He, Yiping Y; McLendon, Roger E RE; Bigner, Darell D DD; Jiao, Yuchen Y; Waitkus, Matthew S MS; Meeker, Alan K AK; Yan, Hai H

Publication Date: 2018-05-25

Variant appearance in text: KMT2C: D348N; rs201834857

PubMed Link: 29802247

Variant Present in the following documents:

• 41467_2018_4448_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: MLL3: D348N

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 2
• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

---

Spatial Tissue Proteomics Quantifies Inter- and Intratumor Heterogeneity in Hepatocellular Carcinoma (HCC).

Molecular & Cellular Proteomics : Mcp

Buczak, Katarzyna K; Ori, Alessandro A; Kirkpatrick, Joanna M JM; Holzer, Kerstin K; Dauch, Daniel D; Roessler, Stephanie S; Endris, Volker V; Lasitschka, Felix F; Parca, Luca L; Schmidt, Alexander A; Zender, Lars L; Schirmacher, Peter P; Krijgsveld, Jeroen J; Singer, Stephan S; Beck, Martin M

Publication Date: 2018-04

Variant appearance in text: KMT2C: Asp348Asn; rs201834857

PubMed Link: 29363612

Variant Present in the following documents:

• supp_RA117.000189_4790_2_supp_58832_p2t92h.xlsx, sheet 1

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: 1042G>A; rs201834857

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

---

Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E.

Oncotarget

Antonello, Zeus A ZA; Hsu, Nancy N; Bhasin, Manoj M; Roti, Giovanni G; Joshi, Mukta M; Van Hummelen, Paul P; Ye, Emily E; Lo, Agnes S AS; Karumanchi, S Ananth SA; Bryke, Christine R CR; Nucera, Carmelo C

Publication Date: 2017-10-17

Variant appearance in text: KMT2C: 1042G>A; D348N; rs201834857

PubMed Link: 29156680

Variant Present in the following documents:

• oncotarget-08-84743-s004.xls, sheet 1

View BVdb publication page

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Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget

Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y

Publication Date: 2017-08-29

Variant appearance in text: MLL3: Asp348Asn

PubMed Link: 28938622

Variant Present in the following documents:

• oncotarget-08-59113-s006.xlsx, sheet 1

View BVdb publication page

---

Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports

Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA

Publication Date: 2017-08-29

Variant appearance in text: MLL3: D348N

PubMed Link: 28852190

Variant Present in the following documents:

• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

---

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

3 Biotech

Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB

Publication Date: 2015-10

Variant appearance in text: MLL3: D348N

PubMed Link: 28324520

Variant Present in the following documents:

• Main text
• 13205_2014_Article_267.pdf
• 13205_2014_267_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: MLL3: D348N; rs201834857

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

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The role of the cancer stem cell marker CD271 in DNA damage response and drug resistance of melanoma cells.

Oncogenesis

Redmer, T T; Walz, I I; Klinger, B B; Khouja, S S; Welte, Y Y; Schäfer, R R; Regenbrecht, C C

Publication Date: 2017-01-23

Variant appearance in text: MLL3: D348N

PubMed Link: 28112719

Variant Present in the following documents:

• oncsis201688x25.xlsx, sheet 1

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: MLL3: D348N

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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Single-strand DNA library preparation improves sequencing of formalin-fixed and paraffin-embedded (FFPE) cancer DNA.

Oncotarget

Stiller, Mathias M; Sucker, Antje A; Griewank, Klaus K; Aust, Daniela D; Baretton, Gustavo Bruno GB; Schadendorf, Dirk D; Horn, Susanne S

Publication Date: 2016-09-13

Variant appearance in text: KMT2C: D348N

PubMed Link: 27463017

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: D348N

PubMed Link: 27023146

Variant Present in the following documents:

• Main text
• pone.0152673.s002.xlsx, sheet 1
• pone.0152673.s002.xlsx, sheet 2
• pone.0152673.s002.xlsx, sheet 6
• pone.0152673.s002.xlsx, sheet 5
• pone.0152673.s002.xlsx, sheet 3
• pone.0152673.s002.xlsx, sheet 4
• pone.0152673.s002.xlsx, sheet 9
• pone.0152673.pdf
• pone.0152673.s002.xlsx, sheet 10

View BVdb publication page

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Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Nature Communications

De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J

Publication Date: 2015-11-10

Variant appearance in text: KMT2C: D348N

PubMed Link: 26554728

Variant Present in the following documents:

• ncomms9839-s3.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: MLL3: 1042G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

---