MSH6 c.1489A>T ;(p.R497*)

Variant ID: 2-48026611-A-T

NM_000179.2(MSH6):c.1489A>T;(p.R497*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
Publication Date: 2019

Variant appearance in text: MSH6: 1489A>T; Arg497*
PubMed Link: 32783018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Treatment with checkpoint inhibitors in a metastatic colorectal cancer patient with molecular and immunohistochemical heterogeneity in MSI/dMMR status.

Journal For Immunotherapy Of Cancer
Loupakis, Fotios F; Maddalena, Giulia G; Depetris, Ilaria I; Murgioni, Sabina S; Bergamo, Francesca F; Dei Tos, Angelo Paolo AP; Rugge, Massimo M; Munari, Giada G; Nguyen, Andrew A; Szeto, Christopher C; Zagonel, Vittorina V; Lonardi, Sara S; Fassan, Matteo M
Publication Date: 2019-11-08

Variant appearance in text: MSH6: R497*
PubMed Link: 31703605
Variant Present in the following documents:
  • 40425_2019_788_MOESM2_ESM.pdf
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: MSH6: R497*
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-9.xlsx, sheet 2
View BVdb publication page