MLH1 c.1771del ;(p.D591Ifs*25)

Variant ID: 3-37089049-AG-A

NM_000249.3(MLH1):c.1771del;(p.D591Ifs*25)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Biomedicines
Chiang, Ying-Cheng YC; Lin, Po-Han PH; Lu, Tzu-Pin TP; Kuo, Kuan-Ting KT; Tai, Yi-Jou YJ; Hsu, Heng-Cheng HC; Wu, Chia-Ying CY; Lee, Chia-Yi CY; Shen, Hung H; Chen, Chi-An CA; Cheng, Wen-Fang WF
Publication Date: 2021-10-03

Variant appearance in text: MLH1: 1771delG; D591fs
PubMed Link: 34680501
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01384.pdf
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: MLH1: 1771delG; Asp591Ilefs
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Decreased level of RASSF6 in sporadic colorectal cancer and its anti-tumor effects both in vitro and in vivo.

Oncotarget
Chen, Erfei E; Yang, Fangfang F; He, Hongjuan H; Lei, Lei L; Liu, Ruitao R; Du, Le L; Dong, Jing J; Wang, Meng M; Yang, Jin J
Publication Date: 2016-04-12

Variant appearance in text: MLH1: 1771delG
PubMed Link: 27009808
Variant Present in the following documents:
  • oncotarget-07-19813-s001.pdf
View BVdb publication page



A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

World Journal Of Gastroenterology
Airaud, Fabrice F; Küry, Sébastien S; Valo, Isabelle I; Maury, Ingrid I; Bonneau, Dominique D; Ingster, Olivier O; Bezieau, Stéphane S
Publication Date: 2012-10-21

Variant appearance in text: MLH1: 1771delG; Asp591Ilefs*25
PubMed Link: 23112559
Variant Present in the following documents:
  • Main text
View BVdb publication page