MSH2 c.1221C>G ;(p.L407=)

Variant ID: 2-47657025-C-G

NM_000251.2(MSH2):c.1221C>G;(p.L407=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: N/A
PubMed Link: 35449176
Variant Present in the following documents:
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs63750813
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp007.xlsx, sheet 1
  • jmedgenet-2021-107886supp003.xlsx, sheet 2
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: N/A
PubMed Link: 32091409
Variant Present in the following documents:
View BVdb publication page



Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Drost, Mark M; Lützen, Anne A; van Hees, Sandrine S; Ferreira, Daniel D; Calléja, Fabienne F; Zonneveld, José B M JB; Nielsen, Finn Cilius FC; Rasmussen, Lene Juel LJ; de Wind, Niels N
Publication Date: 2013-06-04

Variant appearance in text: MSH2: L407L
PubMed Link: 23690608
Variant Present in the following documents:
  • Main text
View BVdb publication page