MLH1 c.473del ;(p.N158Tfs*2)

Variant ID: 3-37050322-CA-C

NM_000249.3(MLH1):c.473del;(p.N158Tfs*2)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 472delA; Asn158Thrfs
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.

Cancers
Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Chen, Jinn-Shiun JS; Tsai, Wen-Sy WS; You, Jeng-Fu JF; Chen, Chia-Chun CC; Liu, Hsiu-Ling HL; Chiang, Jy-Ming JM
Publication Date: 2020-11-28

Variant appearance in text: MLH1: 472delA
PubMed Link: 33260537
Variant Present in the following documents:
  • cancers-12-03560-s001.pdf
View BVdb publication page



Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Journal Of The Anus, Rectum And Colon
Ishida, Hideyuki H; Yamaguchi, Tatsuro T; Tanakaya, Kohji K; Akagi, Kiwamu K; Inoue, Yasuhiro Y; Kumamoto, Kensuke K; Shimodaira, Hideki H; Sekine, Shigeki S; Tanaka, Toshiaki T; Chino, Akiko A; Tomita, Naohiro N; Nakajima, Takeshi T; Hasegawa, Hirotoshi H; Hinoi, Takao T; Hirasawa, Akira A; Miyakura, Yasuyuki Y; Murakami, Yoshie Y; Muro, Kei K; Ajioka, Yoichi Y; Hashiguchi, Yojiro Y; Ito, Yoshinori Y; Saito, Yutaka Y; Hamaguchi, Tetsuya T; Ishiguro, Megumi M; Ishihara, Soichiro S; Kanemitsu, Yukihide Y; Kawano, Hiroshi H; Kinugasa, Yusuke Y; Kokudo, Norihiro N; Murofushi, Keiko K; Nakajima, Takako T; Oka, Shiro S; Sakai, Yoshiharu Y; Tsuji, Akihiko A; Uehara, Keisuke K; Ueno, Hideki H; Yamazaki, Kentaro K; Yoshida, Masahiro M; Yoshino, Takayuki T; Boku, Narikazu N; Fujimori, Takahiro T; Itabashi, Michio M; Koinuma, Nobuo N; Morita, Takayuki T; Nishimura, Genichi G; Sakata, Yuh Y; Shimada, Yasuhiro Y; Takahashi, Keiichi K; Tanaka, Shinji S; Tsuruta, Osamu O; Yamaguchi, Toshiharu T; Sugihara, Kenichi K; Watanabe, Toshiaki T; ,
Publication Date: 2018

Variant appearance in text: MLH1: 472delA; N158Tfs
PubMed Link: 31773066
Variant Present in the following documents:
  • Main text
  • 2432-3853-2-S1.pdf
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: 472delA
PubMed Link: 27009808
Variant Present in the following documents:
  • oncotarget-07-19813-s001.pdf
View BVdb publication page