KMT2C c.13938_13939insT ;(p.K4647*)

Variant ID: 7-151843776-T-TA

NM_170606.2(KMT2C):c.13938_13939insT;(p.K4647*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: N/A
PubMed Link: 35140316
Variant Present in the following documents:
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: N/A
PubMed Link: 35140316
Variant Present in the following documents:
View BVdb publication page



CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics
Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H
Publication Date: 2021

Variant appearance in text: MLL3: K4647fs
PubMed Link: 34158843
Variant Present in the following documents:
  • thnov11p7175s3.xlsx, sheet 1
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: K4647fs
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: N/A
PubMed Link: 28726821
Variant Present in the following documents:
View BVdb publication page