MSH6 c.1861C>T ;(p.L621=)

Variant ID: 2-48026983-C-T

NM_000179.2(MSH6):c.1861C>T;(p.L621=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.

Journal Of Clinical Pathology
Suerink, Manon M; Kilinç, Gül G; Terlouw, Diantha D; Hristova, Hristina H; Sensuk, Lily L; van Egmond, Demi D; Farina Sarasqueta, Arantza A; Langers, Alexandra M J AMJ; van Wezel, Tom T; Morreau, Hans H; Nielsen, Maartje M; ,
Publication Date: 2021-11

Variant appearance in text: MSH6: 1861C>T
PubMed Link: 33046565
Variant Present in the following documents:
  • jclinpath-2020-207040supp003.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MSH6: L621L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: MSH6: 1861C>T
PubMed Link: 31773066
Variant Present in the following documents:
  • 2432-3853-2-S1.pdf
View BVdb publication page



Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21

Variant appearance in text: MSH6: 1861C>T
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
View BVdb publication page