MSH6 c.3268G>T ;(p.E1090*)

Variant ID: 2-48030654-G-T

NM_000179.2(MSH6):c.3268G>T;(p.E1090*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive characterisation of pancreatic ductal adenocarcinoma with microsatellite instability: histology, molecular pathology and clinical implications.

Gut
Luchini, Claudio C; Brosens, Lodewijk A A LAA; Wood, Laura D LD; Chatterjee, Deyali D; Shin, Jae Il JI; Sciammarella, Concetta C; Fiadone, Giulia G; Malleo, Giuseppe G; Salvia, Roberto R; Kryklyva, Valentyna V; Piredda, Maria L ML; Cheng, Liang L; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A
Publication Date: 2021-01

Variant appearance in text: MSH6: Glu1090*
PubMed Link: 32350089
Variant Present in the following documents:
  • Main text
  • gutjnl-2020-320726.pdf
View BVdb publication page



Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Journal Of The National Cancer Institute
Lowery, Maeve A MA; Wong, Winston W; Jordan, Emmet J EJ; Lee, Jonathan W JW; Kemel, Yelena Y; Vijai, Joseph J; Mandelker, Diana D; Zehir, Ahmet A; Capanu, Marinela M; Salo-Mullen, Erin E; Arnold, Angela G AG; Yu, Kenneth H KH; Varghese, Anna M AM; Kelsen, David P DP; Brenner, Robin R; Kaufmann, Erica E; Ravichandran, Vignesh V; Mukherjee, Semanti S; Berger, Michael F MF; Hyman, David M DM; Klimstra, David S DS; Abou-Alfa, Ghassan K GK; Tjan, Catherine C; Covington, Christina C; Maynard, Hannah H; Allen, Peter J PJ; Askan, Gokce G; Leach, Steven D SD; Iacobuzio-Donahue, Christine A CA; Robson, Mark E ME; Offit, Kenneth K; Stadler, Zsofia K ZK; O'Reilly, Eileen M EM
Publication Date: 2018-10-01

Variant appearance in text: MSH6: 3268G>T; Glu1090*
PubMed Link: 29506128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: MSH6: E1090X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page