MLH1 c.413del ;(p.P138Lfs*22)

Variant ID: 3-37048510-GC-G

NM_000249.3(MLH1):c.413del;(p.P138Lfs*22)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: MLH1: 412delC
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 3
View BVdb publication page



Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics
Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P
Publication Date: 2010-09

Variant appearance in text: MLH1: 413delC
PubMed Link: 20587412
Variant Present in the following documents:
  • Main text
  • jmedgenet77677.pdf
View BVdb publication page