EZH2 c.2110+39A>C

Variant ID: 7-148506363-T-G

NM_004456.4(EZH2):c.2110+39A>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mutational Analysis of EZH2 Gene in Patients with Colorectal Adenoma Reveals a Genetic Variant Associated with Risk of Malignant Transformation.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mahasneh, Amjad A AA; Alnegresh, Faten S FS; Alfaqih, Mahmoud A MA
Publication Date: 2021-12-01

Variant appearance in text: rs10268879
PubMed Link: 34967593
Variant Present in the following documents:
  • Main text
  • APJCP-22-4085.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs10268879
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs10268879
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Clonal Evolution and Changes in Two AML Patients Detected with A Novel Single-Cell DNA Sequencing Platform.

Scientific Reports
Xu, Liwen L; Durruthy-Durruthy, Robert R; Eastburn, Dennis J DJ; Pellegrino, Maurizio M; Shah, Omid O; Meyer, Everett E; Zehnder, James J
Publication Date: 2019-07-31

Variant appearance in text: rs10268879
PubMed Link: 31366893
Variant Present in the following documents:
  • 41598_2019_47297_MOESM1_ESM.pdf
View BVdb publication page



Perturbed hematopoietic stem and progenitor cell hierarchy in myelodysplastic syndromes patients with monosomy 7 as the sole cytogenetic abnormality.

Oncotarget
Dimitriou, Marios M; Woll, Petter S PS; Mortera-Blanco, Teresa T; Karimi, Mohsen M; Wedge, David C DC; Doolittle, Helen H; Douagi, Iyadh I; Papaemmanuil, Elli E; Jacobsen, Sten Eirik W SE; Hellström-Lindberg, Eva E
Publication Date: 2016-11-08

Variant appearance in text: rs10268879
PubMed Link: 27683035
Variant Present in the following documents:
  • oncotarget-07-72685-s001.pdf
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: rs10268879
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page