APC c.3140A>G ;(p.E1047G)

Variant ID: 5-112174431-A-G

NM_000038.5(APC):c.3140A>G;(p.E1047G)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics
Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM
Publication Date: 2022-05-05

Variant appearance in text: APC: 3140A>G
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
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: E1047G
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: E1047G
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: APC: 3140A>G
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

Cell Death & Disease
Myint, Ni Ni Moe NNM; Verma, Ajay M AM; Fernandez-Garcia, Daniel D; Sarmah, Panchali P; Tarpey, Patrick S PS; Al-Aqbi, Saif Sattar SS; Cai, Hong H; Trigg, Ricky R; West, Kevin K; Howells, Lynne M LM; Thomas, Anne A; Brown, Karen K; Guttery, David S DS; Singh, Baljit B; Pringle, Howard J HJ; McDermott, Ultan U; Shaw, Jacqui A JA; Rufini, Alessandro A
Publication Date: 2018-08-30

Variant appearance in text: APC: 3140A>G
PubMed Link: 30166531
Variant Present in the following documents:
  • Main text
  • 41419_2018_Article_934.pdf
View BVdb publication page



CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: APC: 3140A>G
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: APC: 3140A>G; E1047G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays.

The Journal Of Molecular Diagnostics : Jmd
Sims, David J DJ; Harrington, Robin D RD; Polley, Eric C EC; Forbes, Thomas D TD; Mehaffey, Michele G MG; McGregor, Paul M PM; Camalier, Corinne E CE; Harper, Kneshay N KN; Bouk, Courtney H CH; Das, Biswajit B; Conley, Barbara A BA; Doroshow, James H JH; Williams, P Mickey PM; Lih, Chih-Jian CJ
Publication Date: 2016-05

Variant appearance in text: APC: 3140A>G
PubMed Link: 27105923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of novel low passage primary and metastatic colorectal cancer cell lines.

Oncotarget
Boot, Arnoud A; van Eendenburg, Jaap J; Crobach, Stijn S; Ruano, Dina D; Speetjens, Frank F; Calame, Jan J; Oosting, Jan J; Morreau, Hans H; van Wezel, Tom T
Publication Date: 2016-03-22

Variant appearance in text: APC: 3140A>G
PubMed Link: 26894854
Variant Present in the following documents:
  • Main text
  • oncotarget-07-14499.pdf
View BVdb publication page