MLH1 c.453+717del

Variant ID: 3-37049271-CT-C

NM_000249.3(MLH1):c.453+717del

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Two Cases of Thymic Cancer in Patients with Lynch Syndrome.

Internal Medicine (Tokyo, Japan)
Watanabe, Mototsugu M; Tanakaya, Kohji K; Furukawa, Shinichi S; Shiotani, Toshio T; Sato, Yumiko Y; Taniguchi, Fumitaka F; Kanaya, Nobuhiko N; Aoki, Hideki H; Sugano, Koukichi K; Ishida, Hideyuki H; Akagi, Kiwamu K; Kataoka, Kazuhiko K
Publication Date: 2022-07-29

Variant appearance in text: MLH1: 453+717del
PubMed Link: 35908972
Variant Present in the following documents:
  • 1349-7235-62-0649.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: 453+717del
PubMed Link: 31773066
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report.

World Journal Of Surgical Oncology
Utsumi, Masashi M; Tanakaya, Kohji K; Mushiake, Yutaka Y; Kunitomo, Tomoyoshi T; Yasuhara, Isao I; Taniguchi, Fumitaka F; Arata, Takashi T; Katsuda, Koh K; Aoki, Hideki H; Takeuchi, Hitoshi H
Publication Date: 2017-08-01

Variant appearance in text: MLH1: 453+717del
PubMed Link: 28764791
Variant Present in the following documents:
  • Main text
  • 12957_2017_Article_1207.pdf
View BVdb publication page