MSH2 c.2613G>T ;(p.K871N)

Variant ID: 2-47707989-G-T

NM_000251.2(MSH2):c.2613G>T;(p.K871N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Immune Phenotypes and Target Antigens of Clonally Expanded Bone Marrow T Cells in Treatment-Naïve Multiple Myeloma.

Cancer Immunology Research
Welters, Carlotta C; Lammoglia Cobo, María Fernanda MF; Stein, Christian Alexander CA; Hsu, Meng-Tung MT; Ben Hamza, Amin A; Penter, Livius L; Chen, Xiaojing X; Buccitelli, Christopher C; Popp, Oliver O; Mertins, Philipp P; Dietze, Kerstin K; Bullinger, Lars L; Moosmann, Andreas A; Blanc, Eric E; Beule, Dieter D; Gerbitz, Armin A; Strobel, Julian J; Hackstein, Holger H; Rahn, Hans-Peter HP; Dornmair, Klaus K; Blankenstein, Thomas T; Hansmann, Leo L
Publication Date: 2022-11-02

Variant appearance in text: MSH2: K871N
PubMed Link: 36122410
Variant Present in the following documents:
  • cir-22-0434_supplementary_data_suppsm1.xls, sheet 1
View BVdb publication page



Fundamental immune-oncogenicity trade-offs define driver mutation fitness.

Nature
Hoyos, David D; Zappasodi, Roberta R; Schulze, Isabell I; Sethna, Zachary Z; de Andrade, Kelvin César KC; Bajorin, Dean F DF; Bandlamudi, Chaitanya C; Callahan, Margaret K MK; Funt, Samuel A SA; Hadrup, Sine R SR; Holm, Jeppe S JS; Rosenberg, Jonathan E JE; Shah, Sohrab P SP; Vázquez-García, Ignacio I; Weigelt, Britta B; Wu, Michelle M; Zamarin, Dmitriy D; Campitelli, Laura F LF; Osborne, Edward J EJ; Klinger, Mark M; Robins, Harlan S HS; Khincha, Payal P PP; Savage, Sharon A SA; Balachandran, Vinod P VP; Wolchok, Jedd D JD; Hellmann, Matthew D MD; Merghoub, Taha T; Levine, Arnold J AJ; Łuksza, Marta M; Greenbaum, Benjamin D BD
Publication Date: 2022-06

Variant appearance in text: MSH2: K871N
PubMed Link: 35545680
Variant Present in the following documents:
  • 41586_2022_4696_MOESM1_ESM.pdf
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 2613G>T; Lys871Asn
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MSH2: K871N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: MSH2: 2613G>T; K871N
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2019-08-30

Variant appearance in text: MSH2: Lys871Asn
PubMed Link: 31480372
Variant Present in the following documents:
  • Main text
  • cancers-11-01279.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MSH2: K871N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer
Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ
Publication Date: 2015-02-01

Variant appearance in text: MSH2: K871N
PubMed Link: 25224212
Variant Present in the following documents:
  • Main text
View BVdb publication page