Publications:

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Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Cancer Science

Liu, Ruiqi R; Niu, Yanling Y; Liu, Chao C; Zhang, Xin X; Zhang, Jinku J; Shi, Min M; Zou, Wenbo W; Gu, Binbin B; Zhu, Honglin H; Wang, Danhua D; Yuan, Hongling H; Li, Wei W; Zhao, Dandan D; Zheng, Qiaosong Q; Liu, Rong R; Chen, Weiping W; Ma, Tonghui T; Zhang, Yanqiao Y

Publication Date: 2023-01-05

Variant appearance in text: KMT2C: 3168G>A; Trp1056Ter

PubMed Link: 36601880

Variant Present in the following documents:

• CAS-114-1229-s004.xlsx, sheet 2

View BVdb publication page

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Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Bmc Pulmonary Medicine

Huang, Jiannan J; Xu, Wenshuai W; Liu, Peng P; Liu, Yaping Y; Shen, Cheng C; Liu, Song S; Wang, Yani Y; Wang, Jun J; Zhang, Tengyue T; He, Yudi Y; Cheng, Chongsheng C; Yang, Luning L; Zhang, Weihong W; Tian, Xinlun X; Xu, Kai-Feng KF

Publication Date: 2022-09-18

Variant appearance in text: KMT2C: 3168G>A; W1056X

PubMed Link: 36117164

Variant Present in the following documents:

• Main text
• 12890_2022_Article_2154.pdf
• 12890_2022_2154_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer.

Cancers

Herzog, Henrike H; Dogan, Senol S; Aktas, Bahriye B; Nel, Ivonne I

Publication Date: 2022-08-24

Variant appearance in text: KMT2C: W1056*

PubMed Link: 36077638

Variant Present in the following documents:

• Main text
• cancers-14-04101.pdf

View BVdb publication page

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Phase II trial of nivolumab monotherapy and biomarker screening in patients with chemo-refractory germ cell tumors.

International Journal Of Urology : Official Journal Of The Japanese Urological Association

Kawahara, Takashi T; Kawai, Koji K; Kojima, Takahiro T; Nagumo, Yoshiyuki Y; Sakka, Shotarou S; Kandori, Shuya S; Negoro, Hiromitsu H; Mathis, Bryan J BJ; Maruo, Kazushi K; Miura, Koji K; Sakamoto, Noriaki N; Shinohara, Nobuo N; Yamashita, Shinichi S; Yonemori, Kan K; Kishida, Takeshi T; Ukimura, Osamu O; Nishimura, Kazuo K; Kobayashi, Yasuyuki Y; Nishiyama, Hiroyuki H

Publication Date: 2022-07

Variant appearance in text: KMT2C: Trp1056*

PubMed Link: 35462438

Variant Present in the following documents:

• IJU-29-741-s001.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics

Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R

Publication Date: 2021-07-20

Variant appearance in text: KMT2C: 3168G>A; Trp1056*

PubMed Link: 34284772

Variant Present in the following documents:

• 12920_2021_1030_MOESM2_ESM.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: 3168G>A; W1056*; rs878969285

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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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: 3168G>A; Trp1056*

PubMed Link: 30981987

Variant Present in the following documents:

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

View BVdb publication page

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Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

Plos One

González-Rincón, Julia J; Méndez, Miriam M; Gómez, Sagrario S; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Pedrosa, Lucía L; Rodríguez-Pinilla, Socorro M SM; Camacho, Francisca I FI; Quero, Cristina C; Pérez-Callejo, David D; Rueda, Antonio A; Llanos, Marta M; Gómez-Codina, José J; Piris, Miguel A MA; Montes-Moreno, Santiago S; Bárcena, Carmen C; Rodríguez-Abreu, Delvys D; Menárguez, Javier J; de la Cruz-Merino, Luis L; Monsalvo, Silvia S; Parejo, Consuelo C; Royuela, Ana A; Kwee, Ivo I; Cascione, Luciano L; Arribas, Alberto A; Bertoni, Francesco F; Mollejo, Manuela M; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2019

Variant appearance in text: KMT2C: 3168G>A; Trp1056Ter

PubMed Link: 30802265

Variant Present in the following documents:

• pone.0212813.s010.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: KMT2C: 3168G>A

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3168G>A; Trp1056*

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 8

View BVdb publication page

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