APC c.1744G>T ;(p.E582*)

Variant ID: 5-112170648-G-T

NM_000038.5(APC):c.1744G>T;(p.E582*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: APC: E582*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



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: E582*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut
Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ
Publication Date: 2020-06

Variant appearance in text: APC: 1744G>T; E582*
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: APC: 1744G>T
PubMed Link: 30719162
Variant Present in the following documents:
  • Main text
  • jcav10p0643.pdf
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: APC: E582X
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 5
View BVdb publication page



A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.

Oncotarget
Wang, Dan D; Liang, Shengyun S; Zhang, Zhao Z; Zhao, Guoru G; Hu, Yuan Y; Liang, Shengran S; Zhang, Xipeng X; Banerjee, Santasree S
Publication Date: 2017-03-28

Variant appearance in text: APC: 1744G>T; Glu582X
PubMed Link: 28423518
Variant Present in the following documents:
  • Main text
  • oncotarget-08-21327.pdf
View BVdb publication page



Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial.

The Journal Of Molecular Diagnostics : Jmd
Lih, Chih-Jian CJ; Harrington, Robin D RD; Sims, David J DJ; Harper, Kneshay N KN; Bouk, Courtney H CH; Datta, Vivekananda V; Yau, Jonathan J; Singh, Rajesh R RR; Routbort, Mark J MJ; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Mantha, Geeta S GS; Krishnamurthy, Savitri S; Ronski, Karyn K; Walther, Zenta Z; Finberg, Karin E KE; Canosa, Sandra S; Robinson, Hayley H; Raymond, Amelia A; Le, Long P LP; McShane, Lisa M LM; Polley, Eric C EC; Conley, Barbara A BA; Doroshow, James H JH; Iafrate, A John AJ; Sklar, Jeffrey L JL; Hamilton, Stanley R SR; Williams, P Mickey PM
Publication Date: 2017-03

Variant appearance in text: APC: Glu582Ter
PubMed Link: 28188106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Human Genetics
Borun, Pawel P; Kubaszewski, Lukasz L; Banasiewicz, Tomasz T; Walkowiak, Jaroslaw J; Skrzypczak-Zielinska, Marzena M; Kaczmarek-Rys, Marta M; Plawski, Andrzej A
Publication Date: 2014-05

Variant appearance in text: APC: 1744G>T
PubMed Link: 24233542
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1393.pdf
View BVdb publication page