APC c.3283C>T ;(p.Q1095*)

Variant ID: 5-112174574-C-T

NM_000038.5(APC):c.3283C>T;(p.Q1095*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Bile is a reliable and valuable source to study cfDNA in biliary tract cancers.

Frontiers In Oncology
Li, Zhanghui Z; Liu, Yelei Y; Fu, Junhui J; Mugaanyi, Joseph J; Yan, Junrong J; Lu, Caide C; Huang, Jing J
Publication Date: 2022

Variant appearance in text: APC: 3283C>T; Q1095*
PubMed Link: 36091112
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One
Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM
Publication Date: 2022

Variant appearance in text: APC: Q1095*
PubMed Link: 35709138
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 3283C>T
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Genetic Characteristics Associated With Drug Resistance in Lung Cancer and Colorectal Cancer Using Whole Exome Sequencing of Cell-Free DNA.

Frontiers In Oncology
Lee, Jong Won JW; Park, Young Soo YS; Choi, Jung Yoon JY; Chang, Won Jin WJ; Lee, Soohyeon S; Sung, Jae Sook JS; Kim, Boyeon B; Lee, Saet Byeol SB; Lee, Sung Yong SY; Choi, Jungmin J; Kim, Yeul Hong YH
Publication Date: 2022

Variant appearance in text: APC: Q1095X
PubMed Link: 35402275
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
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: 3283C>T; Q1095*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, 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: Q1095X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Oncotarget
Wing, Michele R MR; Reeser, Julie W JW; Smith, Amy M AM; Reeder, Matthew M; Martin, Dorrelyn D; Jewell, Benjamin M BM; Datta, Jharna J; Miya, Jharna J; Monk, J Paul JP; Mortazavi, Amir A; Otterson, Gregory A GA; Goldberg, Richard M RM; VanDeusen, Jeffrey B JB; Cole, Sharon S; Dittmar, Kristin K; Jaiswal, Sunny S; Kinzie, Matthew M; Waikhom, Suraj S; Freud, Aharon G AG; Zhou, Xiao-Ping XP; Chen, Wei W; Bhatt, Darshna D; Roychowdhury, Sameek S
Publication Date: 2017-09-29

Variant appearance in text: APC: 3283C>T; Gln1095Ter
PubMed Link: 29100271
Variant Present in the following documents:
  • oncotarget-08-75822-s008.xlsx, sheet 1
View BVdb publication page



Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Genome Biology
Brannon, A Rose AR; Vakiani, Efsevia E; Sylvester, Brooke E BE; Scott, Sasinya N SN; McDermott, Gregory G; Shah, Ronak H RH; Kania, Krishan K; Viale, Agnes A; Oschwald, Dayna M DM; Vacic, Vladimir V; Emde, Anne-Katrin AK; Cercek, Andrea A; Yaeger, Rona R; Kemeny, Nancy E NE; Saltz, Leonard B LB; Shia, Jinru J; D'Angelica, Michael I MI; Weiser, Martin R MR; Solit, David B DB; Berger, Michael F MF
Publication Date: 2014-08-28

Variant appearance in text: APC: 3283C>T; Q1095*
PubMed Link: 25164765
Variant Present in the following documents:
  • 13059_2014_454_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page