APC c.1263G>A ;(p.W421*)

Variant ID: 5-112154992-G-A

NM_000038.5(APC):c.1263G>A;(p.W421*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: APC: W421X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: APC: 1263G>A; W421*
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: APC: 1263G>A; Trp421Ter
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: APC: 1263G>A; Trp421Ter
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: APC: W421*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, 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: 1263G>A; W421*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: APC: 1263G>A; W421*
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: APC: W421*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: APC: W421*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, 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: W421*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: 1263G>A; Trp421Ter
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: W421X
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Plos One
Lanman, Richard B RB; Mortimer, Stefanie A SA; Zill, Oliver A OA; Sebisanovic, Dragan D; Lopez, Rene R; Blau, Sibel S; Collisson, Eric A EA; Divers, Stephen G SG; Hoon, Dave S B DS; Kopetz, E Scott ES; Lee, Jeeyun J; Nikolinakos, Petros G PG; Baca, Arthur M AM; Kermani, Bahram G BG; Eltoukhy, Helmy H; Talasaz, AmirAli A
Publication Date: 2015

Variant appearance in text: APC: W421*
PubMed Link: 26474073
Variant Present in the following documents:
  • pone.0140712.s004.xlsx, sheet 1
View BVdb publication page



Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Oncogene
Rohlin, A A; Engwall, Y Y; Fritzell, K K; Göransson, K K; Bergsten, A A; Einbeigi, Z Z; Nilbert, M M; Karlsson, P P; Björk, J J; Nordling, M M
Publication Date: 2011-12-15

Variant appearance in text: APC: Trp421X
PubMed Link: 21643010
Variant Present in the following documents:
  • Main text
  • onc2011201a.pdf
View BVdb publication page



Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

Bmc Cancer
Fostira, Florentia F; Thodi, Georgia G; Sandaltzopoulos, Raphael R; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2010-07-22

Variant appearance in text: APC: 1263G>A; W421X
PubMed Link: 20649969
Variant Present in the following documents:
  • Main text
  • 1471-2407-10-389.pdf
View BVdb publication page