KMT2C c.3545C>G ;(p.S1182*)

Variant ID: 7-151917775-G-C

NM_170606.2(KMT2C):c.3545C>G;(p.S1182*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: KMT2C: S1182*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



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: 3545C>G; S1182*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: KMT2C: S1182*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: KMT2C: S1182*
PubMed Link: 31484939
Variant Present in the following documents:
  • 41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence.

Oncotarget
Ueda, Masami M; Iguchi, Tomohiro T; Masuda, Takaaki T; Nakahara, Yujiro Y; Hirata, Hidenari H; Uchi, Ryutaro R; Niida, Atsushi A; Momose, Kota K; Sakimura, Shotaro S; Chiba, Kenichi K; Eguchi, Hidetoshi H; Ito, Shuhei S; Sugimachi, Keishi K; Yamasaki, Makoto M; Suzuki, Yutaka Y; Miyano, Satoru S; Doki, Yuichiro Y; Mori, Masaki M; Mimori, Koshi K
Publication Date: 2016-09-20

Variant appearance in text: MLL3: S1182X
PubMed Link: 27556701
Variant Present in the following documents:
  • oncotarget-07-62280-s002.xlsx, sheet 1
  • oncotarget-07-62280-s003.xlsx, sheet 1
View BVdb publication page