MSH6 c.1967C>T ;(p.P656L)

Variant ID: 2-48027089-C-T

NM_000179.2(MSH6):c.1967C>T;(p.P656L)

This variant was identified in 5 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: P656L
PubMed Link: 35522273
Variant Present in the following documents:
  • 1656.pdf
View BVdb publication page



Hypermutated phenotype in gliosarcoma of the spinal cord.

Npj Precision Oncology
Hong, Christopher S CS; Kuzmik, Gregory A GA; Kundishora, Adam J AJ; Elsamadicy, Aladine A AA; Koo, Andrew B AB; McGuone, Declan D; Blondin, Nicholas A NA; DiLuna, Michael L ML; Erson-Omay, E Zeynep EZ
Publication Date: 2021-02-12

Variant appearance in text: MSH6: P656L
PubMed Link: 33580181
Variant Present in the following documents:
  • Main text
  • 41698_2021_Article_143.pdf
View BVdb publication page



Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.

Genes, Chromosomes & Cancer
Schubert, Stephanie A SA; Ruano, Dina D; Tiersma, Yvonne Y; Drost, Mark M; de Wind, Niels N; Nielsen, Maartje M; van Hest, Liselotte P LP; Morreau, Hans H; de Miranda, Noel F C C NFCC; van Wezel, Tom T
Publication Date: 2020-07-02

Variant appearance in text: MSH6: Pro656Leu
PubMed Link: 32615015
Variant Present in the following documents:
  • GCC-59-697-s001.xlsx, sheet 2
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: MSH6: P656L
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page



MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Giráldez, María Dolores MD; Balaguer, Francesc F; Bujanda, Luis L; Cuatrecasas, Miriam M; Muñoz, Jenifer J; Alonso-Espinaco, Virginia V; Larzabal, Mikel M; Petit, Anna A; Gonzalo, Victoria V; Ocaña, Teresa T; Moreira, Leticia L; Enríquez-Navascués, José María JM; Boland, C Richard CR; Goel, Ajay A; Castells, Antoni A; Castellví-Bel, Sergi S
Publication Date: 2010-11-15

Variant appearance in text: MSH6: P656L
PubMed Link: 20924129
Variant Present in the following documents:
  • Main text
View BVdb publication page