MSH6 c.1453C>T ;(p.Q485*)

Variant ID: 2-48026575-C-T

NM_000179.2(MSH6):c.1453C>T;(p.Q485*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Cancer Discovery
Crisafulli, Giovanni G; Sartore-Bianchi, Andrea A; Lazzari, Luca L; Pietrantonio, Filippo F; Amatu, Alessio A; Macagno, Marco M; Barault, Ludovic L; Cassingena, Andrea A; Bartolini, Alice A; Luraghi, Paolo P; Mauri, Gianluca G; Battuello, Paolo P; Personeni, Nicola N; Zampino, Maria Giulia MG; Pessei, Valeria V; Vitiello, Pietro Paolo PP; Tosi, Federica F; Idotta, Laura L; Morano, Federica F; Valtorta, Emanuele E; Bonoldi, Emanuela E; Germano, Giovanni G; Di Nicolantonio, Federica F; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A
Publication Date: 2022-07-06

Variant appearance in text: MSH6: Q485*
PubMed Link: 35522273
Variant Present in the following documents:
  • 1656.pdf
  • cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: MSH6: Q485*
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Cahill, Daniel P DP; Levine, Kymberly K KK; Betensky, Rebecca A RA; Codd, Patrick J PJ; Romany, Candice A CA; Reavie, Linsey B LB; Batchelor, Tracy T TT; Futreal, P Andrew PA; Stratton, Michael R MR; Curry, William T WT; Iafrate, A John AJ; Louis, David N DN
Publication Date: 2007-04-01

Variant appearance in text: MSH6: Q485X
PubMed Link: 17404084
Variant Present in the following documents:
  • Main text
View BVdb publication page



A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.

Cancer Research
Hunter, Chris C; Smith, Raffaella R; Cahill, Daniel P DP; Stephens, Philip P; Stevens, Claire C; Teague, Jon J; Greenman, Chris C; Edkins, Sarah S; Bignell, Graham G; Davies, Helen H; O'Meara, Sarah S; Parker, Adrian A; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gorton, Matthew M; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathon J; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Laman, Ross R; Lugg, Richard R; Menzies, Andrew A; Perry, Janet J; Petty, Robert R; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alexandra A; Solomon, Helen H; Tofts, Calli C; Varian, Jennifer J; West, Sofie S; Widaa, Sara S; Yates, Andy A; Easton, Douglas F DF; Riggins, Gregory G; Roy, Jennifer E JE; Levine, Kymberly K KK; Mueller, Wolf W; Batchelor, Tracy T TT; Louis, David N DN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R
Publication Date: 2006-04-15

Variant appearance in text: MSH6: 1453C>T; Q485X
PubMed Link: 16618716
Variant Present in the following documents:
  • Main text
View BVdb publication page