APC c.1381G>T ;(p.E461*)

Variant ID: 5-112157661-G-T

NM_000038.5(APC):c.1381G>T;(p.E461*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: APC: 1381G>T; E461*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Argon Plasma Coagulation With Cholangioscopy as Additional Treatment for Residual Ampullary Tumor in a Young Familial Adenomatous Polyposis Patient.

Acg Case Reports Journal
Cho, Hourin H; Yamada, Masayoshi M; Tanabe, Noriko N; Yoshida, Teruhiko T; Sugano, Kokichi K; Hashimoto, Taiki T; Hijioka, Susumu S
Publication Date: 2019-08

Variant appearance in text: APC: 1381G>T; E461X
PubMed Link: 31737730
Variant Present in the following documents:
  • Main text
  • ac9-6-e00202.pdf
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: APC: 1381G>T; Glu461*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



BCL9L Dysfunction Impairs Caspase-2 Expression Permitting Aneuploidy Tolerance in Colorectal Cancer.

Cancer Cell
López-García, Carlos C; Sansregret, Laurent L; Domingo, Enric E; McGranahan, Nicholas N; Hobor, Sebastijan S; Birkbak, Nicolai Juul NJ; Horswell, Stuart S; Grönroos, Eva E; Favero, Francesco F; Rowan, Andrew J AJ; Matthews, Nicholas N; Begum, Sharmin S; Phillimore, Benjamin B; Burrell, Rebecca R; Oukrif, Dahmane D; Spencer-Dene, Bradley B; Kovac, Michal M; Stamp, Gordon G; Stewart, Aengus A; Danielsen, Havard H; Novelli, Marco M; Tomlinson, Ian I; Swanton, Charles C
Publication Date: 2017-01-09

Variant appearance in text: APC: E461X
PubMed Link: 28073006
Variant Present in the following documents:
  • mmc1.pdf
  • mmc6.pdf
View BVdb publication page



Clinicopathological features of familial adenomatous polyposis in Korean patients.

World Journal Of Gastroenterology
Jung, Sung Min SM; Yoon, Yong Sik YS; Lim, Seok-Byeong SB; Yu, Chang Sik CS; Kim, Jin Cheon JC
Publication Date: 2016-05-07

Variant appearance in text: APC: 1381G>T; Glu461X
PubMed Link: 27158207
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Plos One
Vasovcak, Peter P; Pavlikova, Kristyna K; Sedlacek, Zdenek Z; Skapa, Petr P; Kouda, Martin M; Hoch, Jiri J; Krepelova, Anna A
Publication Date: 2011

Variant appearance in text: APC: 1381G>T; E461X
PubMed Link: 21901162
Variant Present in the following documents:
  • pone.0024114.s001.xls, sheet 2
  • pone.0024114.s001.xls, sheet 3
  • pone.0024114.s001.xls, sheet 1
View BVdb publication page