MLH1 c.1036C>T ;(p.Q346*)

Variant ID: 3-37061952-C-T

NM_000249.3(MLH1):c.1036C>T;(p.Q346*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Cancers
Kim, Yoo-Na YN; Kim, Min Kyu MK; Lee, Young Joo YJ; Lee, Youngeun Y; Sohn, Ji Yeon JY; Lee, Jung-Yun JY; Choi, Min Chul MC; Kim, Migang M; Jung, Sang Geun SG; Joo, Won Duk WD; Lee, Chan C
Publication Date: 2022-07-13

Variant appearance in text: MLH1: 1036C>T
PubMed Link: 35884469
Variant Present in the following documents:
  • cancers-14-03406.pdf
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: MLH1: 1036C>T
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multiregional Tumor Sequencing.

Molecular Cancer Research : Mcr
Bonneville, Russell R; Paruchuri, Anoosha A; Wing, Michele R MR; Krook, Melanie A MA; Reeser, Julie W JW; Chen, Hui-Zi HZ; Dao, Thuy T; Samorodnitsky, Eric E; Smith, Amy M AM; Yu, Lianbo L; Nowacki, Nicholas N; Chen, Wei W; Roychowdhury, Sameek S
Publication Date: 2021-03

Variant appearance in text: MLH1: Q346X
PubMed Link: 33229401
Variant Present in the following documents:
  • Main text
View BVdb publication page