KMT2C c.943G>A ;(p.G315S)

Variant ID: 7-151970859-C-T

NM_170606.2(KMT2C):c.943G>A;(p.G315S)

This variant was identified in 52 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: KMT2C: G315S; rs149992209
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: 943G>A; Gly315Ser; rs149992209
PubMed Link: 36922594
Variant Present in the following documents:
  • 41586_2023_5794_MOESM6_ESM.xlsx, sheet 1
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: 943G>A; G315S; rs149992209
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 943G>A; G315S; rs149992209
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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: G315S
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Elucidation of genomic origin of synchronous endometrial and ovarian cancer (SEO) by genomic and microsatellite analysis.

Journal Of Gynecologic Oncology
Sakamoto, Ikuko I; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nozaki, Takahiro T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2022-10-06

Variant appearance in text: KMT2C: Gly315Ser
PubMed Link: 36245225
Variant Present in the following documents:
  • jgo-34-e6.pdf
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: 943G>A
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere
Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S
Publication Date: 2022-04

Variant appearance in text: KMT2C: 943G>A; G315S; rs149992209
PubMed Link: 35291210
Variant Present in the following documents:
  • hs9-6-e700-s004.xlsx, sheet 5
View BVdb publication page



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: rs149992209
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: KMT2C: 943G>A; G315S
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xlsx, sheet 1
View BVdb publication page



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: G315S
PubMed Link: 35017466
Variant Present in the following documents:
  • 41408_2021_603_MOESM1_ESM.pdf
View BVdb publication page



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: G315S
PubMed Link: 35017466
Variant Present in the following documents:
  • 41408_2021_603_MOESM1_ESM.pdf
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: 943G>A; Gly315Ser
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s007.xlsx, sheet 2
View BVdb publication page



Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.

Scientific Reports
Erkizan, Hayriye Verda HV; Sukhadia, Shrey S; Natarajan, Thanemozhi G TG; Marino, Gustavo G; Notario, Vicente V; Lichy, Jack H JH; Wadleigh, Robert G RG
Publication Date: 2021-07-20

Variant appearance in text: rs149992209
PubMed Link: 34285259
Variant Present in the following documents:
  • Main text
  • 41598_2021_94064_MOESM8_ESM.xlsx, sheet 1
  • 41598_2021_Article_94064.pdf
View BVdb publication page



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: G315S
PubMed Link: 34178989
Variant Present in the following documents:
  • Main text
  • fcell-09-666156.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: G315S; rs149992209
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: KMT2C: 943G>A; G315S
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: KMT2C: 943G>A; G315S
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.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: 943G>A; G315S; rs149992209
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genomic and transcriptomic analysis of pituitary adenomas reveals the impacts of copy number variations on gene expression and clinical prognosis among prolactin-secreting subtype.

Aging
Chen, Yiyuan Y; Gao, Hua H; Xie, Weiyan W; Guo, Jing J; Fang, Qiuyue Q; Zhao, Peng P; Liu, Chunhui C; Zhu, Haibo H; Wang, Zhuang Z; Wang, Jichao J; Gui, Songbai S; Zhang, Yazhuo Y; Li, Chuzhong C
Publication Date: 2020-12-19

Variant appearance in text: KMT2C: G315S; rs149992209
PubMed Link: 33472173
Variant Present in the following documents:
  • aging-13-202304-s003.xlsx, sheet 1
View BVdb publication page



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: G315S; rs149992209
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 19
  • CTM2-11-e285-s003.xlsx, sheet 22
  • CTM2-11-e285-s003.xlsx, sheet 21
  • CTM2-11-e285-s003.xlsx, sheet 9
  • CTM2-11-e285-s003.xlsx, sheet 20
View BVdb publication page



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: G315S
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Bmc Cancer
Lee, Sun-Young SY; Chae, Dong-Kyu DK; Lee, Sung-Hun SH; Lim, Yohan Y; An, Jahyun J; Chae, Chang Hoon CH; Kim, Byung Chul BC; Bhak, Jong J; Bolser, Dan D; Cho, Dong-Hyu DH
Publication Date: 2020-07-27

Variant appearance in text: KMT2C: 943G>A; G315S
PubMed Link: 32718341
Variant Present in the following documents:
  • 12885_2020_7161_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 943G>A; Gly315Ser
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s005.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: 943G>A; G315S; rs149992209
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: KMT2C: G315S; rs149992209
PubMed Link: 32005272
Variant Present in the following documents:
  • 13045_2020_844_MOESM10_ESM.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: 943G>A; Gly315Ser
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj
Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M
Publication Date: 2019

Variant appearance in text: KMT2C: G315S
PubMed Link: 30828495
Variant Present in the following documents:
  • peerj-07-6501-s001.xlsx, sheet 3
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: MLL3: G315S
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 943G>A
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 20
  • pone.0210079.s007.xlsx, sheet 3
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: KMT2C: G315S; rs149992209
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.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: 943G>A; rs149992209
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: MLL3: G315S
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: G315S
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: 943G>A; Gly315Ser; rs149992209
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 8
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: rs149992209
PubMed Link: 29789628
Variant Present in the following documents:
  • 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1
  • 41467_2018_4356_MOESM12_ESM.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: 943G>A; rs149992209
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



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: 943G>A; Gly315Ser
PubMed Link: 29113313
Variant Present in the following documents:
  • Main text
  • oncotarget-08-80416.pdf
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: G315S
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 3
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs149992209
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: KMT2C: 943G>A; Gly315Ser
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page



Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.

Plos Medicine
Hoadley, Katherine A KA; Siegel, Marni B MB; Kanchi, Krishna L KL; Miller, Christopher A CA; Ding, Li L; Zhao, Wei W; He, Xiaping X; Parker, Joel S JS; Wendl, Michael C MC; Fulton, Robert S RS; Demeter, Ryan T RT; Wilson, Richard K RK; Carey, Lisa A LA; Perou, Charles M CM; Mardis, Elaine R ER
Publication Date: 2016-12

Variant appearance in text: MLL3: G315S
PubMed Link: 27923045
Variant Present in the following documents:
  • pmed.1002174.s018.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: MLL3: G315S
PubMed Link: 27791198
Variant Present in the following documents:
  • oncotarget-07-77163-s002.xlsx, sheet 14
  • oncotarget-07-77163-s002.xlsx, sheet 18
  • oncotarget-07-77163-s003.xlsx, sheet 17
  • oncotarget-07-77163-s003.xlsx, sheet 11
  • oncotarget-07-77163-s002.xlsx, sheet 17
  • oncotarget-07-77163-s003.xlsx, sheet 14
  • oncotarget-07-77163-s003.xlsx, sheet 18
  • oncotarget-07-77163-s002.xlsx, sheet 11
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: KMT2C: G315S
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
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: G315S
PubMed Link: 27023146
Variant Present in the following documents:
  • Main text
  • pone.0152673.s002.xlsx, sheet 1
  • pone.0152673.pdf
View BVdb publication page



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: G315S; rs149992209
PubMed Link: 26670335
Variant Present in the following documents:
  • pone.0144528.s005.xlsx, sheet 1
View BVdb publication page



Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Nature Communications
Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J
Publication Date: 2015-12-09

Variant appearance in text: MLL3: G315S
PubMed Link: 26647728
Variant Present in the following documents:
  • ncomms10131-s8.xlsx, sheet 1
View BVdb publication page



BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Acta Neuropathologica
Shankar, Ganesh M GM; Lelic, Nina N; Gill, Corey M CM; Thorner, Aaron R AR; Van Hummelen, Paul P; Wisoff, Jeffrey H JH; Loeffler, Jay S JS; Brastianos, Priscilla K PK; Shin, John H JH; Borges, Lawrence F LF; Butler, William E WE; Zagzag, David D; Brody, Rachel I RI; Duhaime, Ann-Christine AC; Taylor, Michael D MD; Hawkins, Cynthia E CE; Louis, David N DN; Cahill, Daniel P DP; Curry, William T WT; Meyerson, Matthew M
Publication Date: 2016-01

Variant appearance in text: MLL3: 943G>A; rs149992209
PubMed Link: 26487540
Variant Present in the following documents:
  • 401_2015_1492_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Jama
Mody, Rajen J RJ; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Cao, Xuhong X; Roychowdhury, Sameek S; Vats, Pankaj P; Frank, Kevin M KM; Prensner, John R JR; Asangani, Irfan I; Palanisamy, Nallasivam N; Dillman, Jonathan R JR; Rabah, Raja M RM; Kunju, Laxmi Priya LP; Everett, Jessica J; Raymond, Victoria M VM; Ning, Yu Y; Su, Fengyun F; Wang, Rui R; Stoffel, Elena M EM; Innis, Jeffrey W JW; Roberts, J Scott JS; Robertson, Patricia L PL; Yanik, Gregory G; Chamdin, Aghiad A; Connelly, James A JA; Choi, Sung S; Harris, Andrew C AC; Kitko, Carrie C; Rao, Rama Jasty RJ; Levine, John E JE; Castle, Valerie P VP; Hutchinson, Raymond J RJ; Talpaz, Moshe M; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2015-09-01

Variant appearance in text: MLL3: G315S
PubMed Link: 26325560
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: MLL3: G315S; rs149992209
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: MLL3: G315S
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Plos One
Vaqué, José P JP; Martínez, Nerea N; Varela, Ignacio I; Fernández, Fidel F; Mayorga, Marta M; Derdak, Sophia S; Beltrán, Sergi S; Moreno, Thaidy T; Almaraz, Carmen C; De Las Heras, Gonzalo G; Bayés, Mónica M; Gut, Ivo I; Crespo, Javier J; Piris, Miguel A MA
Publication Date: 2015

Variant appearance in text: KMT2C: 943G>A; G315S
PubMed Link: 25775023
Variant Present in the following documents:
  • pone.0119946.s007.xls, sheet 1
  • pone.0119946.s007.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: 943G>A; rs149992209
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: 943G>A; rs149992209
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
View BVdb publication page