MSH2 c.1261C>T ;(p.L421=)

Variant ID: 2-47657065-C-T

NM_000251.2(MSH2):c.1261C>T;(p.L421=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute
Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL
Publication Date: 2021-09-04

Variant appearance in text: MSH2: 1261C>T
PubMed Link: 33693762
Variant Present in the following documents:
  • djab029.pdf
View BVdb publication page



Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

International Journal Of Cancer
Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,
Publication Date: 2020-10-15

Variant appearance in text: MSH2: 1261C>T
PubMed Link: 32510614
Variant Present in the following documents:
  • IJC-147-2150-s001.pdf
View BVdb publication page