KMT2D c.5077C>T ;(p.R1693W)

Variant ID: 12-49438192-G-A

NM_003482.3(KMT2D):c.5077C>T;(p.R1693W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: KMT2D: 5077C>T
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



STRN -ALK Rearranged Malignant Peritoneal Mesothelioma With Dramatic Response Following Ceritinib Treatment.

Jco Precision Oncology
Rüschoff, Jan H JH; Gradhand, Elise E; Kahraman, Abdullah A; Rees, Helen H; Ferguson, Jane L JL; Curioni-Fontecedro, Alessandra A; Zoche, Martin M; Moch, Holger H; Vrugt, Bart B
Publication Date: 2019

Variant appearance in text: KMT2D: 5077C>T; R1693W
PubMed Link: 32914035
Variant Present in the following documents:
  • Main text
  • PO.19.00048.pdf
View BVdb publication page



Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Bmc Biology
Mamlouk, Soulafa S; Simon, Tincy T; Tomás, Laura L; Wedge, David C DC; Arnold, Alexander A; Menne, Andrea A; Horst, David D; Capper, David D; Morkel, Markus M; Posada, David D; Sers, Christine C; Bläker, Hendrik H
Publication Date: 2020-09-07

Variant appearance in text: KMT2D: R1693W
PubMed Link: 32895052
Variant Present in the following documents:
  • 12915_2020_844_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: KMT2D: R1693W
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page