MLH1 c.2259dup ;(p.E754*)

Variant ID: 3-37092129-C-CT

NM_000249.3(MLH1):c.2259dup;(p.E754*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research
Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S
Publication Date: 2022-07

Variant appearance in text: MLH1: 2259dup; Glu754Ter
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx, sheet 1
View BVdb publication page



Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.

Cold Spring Harbor Molecular Case Studies
Wong, Hui-Li HL; Yang, Kevin C KC; Shen, Yaoqing Y; Zhao, Eric Y EY; Loree, Jonathan M JM; Kennecke, Hagen F HF; Kalloger, Steve E SE; Karasinska, Joanna M JM; Lim, Howard J HJ; Mungall, Andrew J AJ; Feng, Xiaolan X; Davies, Janine M JM; Schrader, Kasmintan K; Zhou, Chen C; Karsan, Aly A; Jones, Steven J M SJM; Laskin, Janessa J; Marra, Marco A MA; Schaeffer, David F DF; Gorski, Sharon M SM; Renouf, Daniel J DJ
Publication Date: 2018-02

Variant appearance in text: MLH1: 2259dupT; Glu754fs
PubMed Link: 29092957
Variant Present in the following documents:
  • supp_mcs.a002329_Supplemental_Data_1.xlsx, sheet 5
View BVdb publication page