MSH2 c.2445T>A ;(p.Y815*)

Variant ID: 2-47705645-T-A

NM_000251.2(MSH2):c.2445T>A;(p.Y815*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Increased blood-based intratumor heterogeneity (bITH) is associated with unfavorable outcomes of immune checkpoint inhibitors plus chemotherapy in non-small cell lung cancer.

Bmc Medicine
Zhou, Juan J; Bao, Minwei M; Gao, Guanghui G; Cai, Yiran Y; Wu, Lihong L; Lei, Lei L; Zhao, Jing J; Ji, Xianxiu X; Huang, Ying Y; Su, Chunxia C
Publication Date: 2022-07-29

Variant appearance in text: MSH2: Y815*
PubMed Link: 35902848
Variant Present in the following documents:
  • 12916_2022_2444_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Publication Date: 2017-05-03

Variant appearance in text: MSH2: Tyr815*
PubMed Link: 28466842
Variant Present in the following documents:
  • Main text
  • ncomms14755.pdf
  • ncomms14755-s1.pdf
View BVdb publication page