APC c.3949G>T ;(p.E1317*)

Variant ID: 5-112175240-G-T

NM_000038.5(APC):c.3949G>T;(p.E1317*)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: APC: E1317*
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Prognostic Impact of An Integrative Landscape of Clinical, Immune, and Molecular Features in Non-Metastatic Rectal Cancer.

Frontiers In Oncology
Iseas, Soledad S; Sendoya, Juan M JM; Robbio, Juan J; Coraglio, Mariana M; Kujaruk, Mirta M; Mikolaitis, Vanesa V; Rizzolo, Mariana M; Cabanne, Ana A; Ruiz, Gonzalo G; Salanova, Rubén R; Gualdrini, Ubaldo U; Méndez, Guillermo G; Antelo, Marina M; Carballido, Marcela M; Rotondaro, Cecilia C; Viglino, Julieta J; Eleta, Martín M; Di Sibio, Alejandro A; Podhajcer, Osvaldo L OL; Roca, Enrique E; Llera, Andrea S AS; Golubicki, Mariano M; Abba, Martín Carlos MC
Publication Date: 2021

Variant appearance in text: APC: E1317*
PubMed Link: 35071006
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: APC: 3949G>T; Glu1317*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: APC: 3949G>T; Glu1317*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: APC: 3949G>T; E1317*
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
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: 3949G>T; E1317*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: APC: 3949G>T; E1317*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: APC: 3949G>T; E1317*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: APC: E1317*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Scientific Reports
Dong, Zhouhuan Z; Kong, Linghong L; Wan, Zhiyi Z; Zhu, Fengwei F; Zhong, Mei M; Lv, Yali Y; Zhao, Po P; Shi, Huaiyin H
Publication Date: 2019-11-15

Variant appearance in text: APC: 3949G>T; E1317*
PubMed Link: 31729406
Variant Present in the following documents:
  • 41598_2019_53039_MOESM1_ESM.pdf
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: 3949G>T; Glu1317Ter
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: APC: Glu1317Ter
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



Contribution of allelic imbalance to colorectal cancer.

Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
Publication Date: 2018-09-10

Variant appearance in text: APC: E1317X
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate.

Esmo Open
Ree, Anne Hansen AH; Russnes, Hege G HG; Heinrich, Daniel D; Dueland, Svein S; Boye, Kjetil K; Nygaard, Vigdis V; Silwal-Pandit, Laxmi L; Østrup, Olga O; Hovig, Eivind E; Nygaard, Vegard V; Rødland, Einar A EA; Nakken, Sigve S; Øien, Janne T JT; Johansen, Christin C; Bergheim, Inger R IR; Skarpeteig, Veronica V; Sathermugathevan, Menaka M; Sauer, Torill T; Lund-Iversen, Marius M; Beiske, Klaus K; Nasser, Salah S; Julsrud, Lars L; Reisse, Claudius H CH; Ruud, Espen A EA; Flørenes, Vivi Ann VA; Hagene, Kirsten T KT; Aas, Eline E; Lurås, Hilde H; Johnsen-Soriano, Siv S; Geitvik, Gry A GA; Lingjærde, Ole Christian OC; Børresen-Dale, Anne-Lise AL; Mælandsmo, Gunhild M GM; Flatmark, Kjersti K
Publication Date: 2017

Variant appearance in text: APC: E1317X
PubMed Link: 28761742
Variant Present in the following documents:
  • Main text
  • esmoopen-2017-000158supp002.pdf
  • esmoopen-2017-000158.pdf
View BVdb publication page



Subclonal diversity arises early even in small colorectal tumours and contributes to differential growth fates.

Gut
Sievers, Chelsie K CK; Zou, Luli S LS; Pickhardt, Perry J PJ; Matkowskyj, Kristina A KA; Albrecht, Dawn M DM; Clipson, Linda L; Bacher, Jeffery W JW; Pooler, B Dustin BD; Moawad, Fouad J FJ; Cash, Brooks D BD; Reichelderfer, Mark M; Vo, Tien N TN; Newton, Michael A MA; Larget, Bret R BR; Halberg, Richard B RB
Publication Date: 2017-12

Variant appearance in text: APC: E1317*
PubMed Link: 27609830
Variant Present in the following documents:
  • gutjnl-2016-312232supp002.pdf
View BVdb publication page



A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

Nature Communications
Schell, Michael J MJ; Yang, Mingli M; Teer, Jamie K JK; Lo, Fang Yin FY; Madan, Anup A; Coppola, Domenico D; Monteiro, Alvaro N A AN; Nebozhyn, Michael V MV; Yue, Binglin B; Loboda, Andrey A; Bien-Willner, Gabriel A GA; Greenawalt, Danielle M DM; Yeatman, Timothy J TJ
Publication Date: 2016-06-15

Variant appearance in text: APC: E1317*
PubMed Link: 27302369
Variant Present in the following documents:
  • ncomms11743-s3.xlsx, sheet 1
View BVdb publication page



Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

The American Journal Of Pathology
Halford, Sarah E R SE; Rowan, Andrew J AJ; Lipton, Lara L; Sieber, Oliver M OM; Pack, Kevin K; Thomas, Huw J W HJ; Hodgson, Shirley V SV; Bodmer, Walter F WF; Tomlinson, Ian P M IP
Publication Date: 2003-05

Variant appearance in text: APC: E1317X
PubMed Link: 12707038
Variant Present in the following documents:
  • Main text
View BVdb publication page