APC c.3833C>A ;(p.S1278*)

Variant ID: 5-112175124-C-A

NM_000038.5(APC):c.3833C>A;(p.S1278*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16

Variant appearance in text: APC: 3833C>A; Ser1278*
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
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: S1278*
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: S1278*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: APC: S1278X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances
Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS
Publication Date: 2020-01

Variant appearance in text: APC: S1278*
PubMed Link: 31998840
Variant Present in the following documents:
  • aay2174_SM.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: APC: Ser1278*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.

Cold Spring Harbor Molecular Case Studies
Lindsay, Holly H; Scollon, Sarah S; Reuther, Jacquelyn J; Voicu, Horatiu H; Rednam, Surya P SP; Lin, Frank Y FY; Fisher, Kevin E KE; Chintagumpala, Murali M; Adesina, Adekunle M AM; Parsons, D Will DW; Plon, Sharon E SE; Roy, Angshumoy A
Publication Date: 2019-10

Variant appearance in text: APC: 3833C>A; Ser1278Ter
PubMed Link: 31624068
Variant Present in the following documents:
  • Main text
  • MCS004499Lin.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: APC: 3833C>A; S1278X
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 2
  • Table_2.xls, sheet 1
View BVdb publication page



A novel tankyrase inhibitor, MSC2504877, enhances the effects of clinical CDK4/6 inhibitors.

Scientific Reports
Menon, Malini M; Elliott, Richard R; Bowers, Leandra L; Balan, Nicolae N; Rafiq, Rumana R; Costa-Cabral, Sara S; Munkonge, Felix F; Trinidade, Ines I; Porter, Roderick R; Campbell, Andrew D AD; Johnson, Emma R ER; Esdar, Christina C; Buchstaller, Hans-Peter HP; Leuthner, Birgitta B; Rohdich, Felix F; Schneider, Richard R; Sansom, Owen O; Wienke, Dirk D; Ashworth, Alan A; Lord, Christopher J CJ
Publication Date: 2019-01-17

Variant appearance in text: APC: S1278*
PubMed Link: 30655555
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36447.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: 3833C>A; S1278*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One
Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY
Publication Date: 2013

Variant appearance in text: APC: S1278*
PubMed Link: 23700467
Variant Present in the following documents:
  • pone.0064271.s004.xlsx, sheet 1
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 3833C>A; Ser1278X
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page