APC c.289G>A ;(p.G97R)

Variant ID: 5-112102954-G-A

NM_000038.5(APC):c.289G>A;(p.G97R)

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: 289G>A; Gly97Arg
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Generation of neoantigen-specific T cells for adoptive cell transfer for treating head and neck squamous cell carcinoma.

Oncoimmunology
Wei, Teng T; Leisegang, Matthias M; Xia, Ming M; Kiyotani, Kazuma K; Li, Ning N; Zeng, Chenquan C; Deng, Chunyan C; Jiang, Jinxing J; Harada, Makiko M; Agrawal, Nishant N; Li, Liangping L; Qi, Hui H; Nakamura, Yusuke Y; Ren, Lili L
Publication Date: 2021-05-25

Variant appearance in text: APC: G97R
PubMed Link: 34104546
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Frontiers In Genetics
Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T
Publication Date: 2020

Variant appearance in text: APC: 289G>A; Gly97Arg
PubMed Link: 33193653
Variant Present in the following documents:
  • Main text
View BVdb publication page



Short tandem repeat profiling for the authentication of cancer stem-like cells.

International Journal Of Cancer
Visconti, Paola P; Parodi, Federica F; Parodi, Barbara B; Casarino, Lucia L; Romano, Paolo P; Buccarelli, Mariachiara M; Pallini, Roberto R; D'Alessandris, Quintino Giorgio QG; Montori, Andrea A; Pilozzi, Emanuela E; Ricci-Vitiani, Lucia L
Publication Date: 2021-03-15

Variant appearance in text: APC: 289G>A; Gly97Arg
PubMed Link: 33128777
Variant Present in the following documents:
  • IJC-148-1489-s001.pdf
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: G97R
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.

Hereditary Cancer In Clinical Practice
Djursby, Malene M; Wadt, Karin K; Frederiksen, Jane Hübertz JH; Madsen, Majbritt Busk MB; Berchtold, Lukas Adrian LA; Hasselby, Jane Preuss JP; Willemoe, Gro Linno GL; Hansen, Thomas V O TVO; Gerdes, Anne-Marie AM
Publication Date: 2020

Variant appearance in text: APC: 289G>A; Gly97Arg
PubMed Link: 32292534
Variant Present in the following documents:
  • Main text
  • 13053_2020_Article_140.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: Gly97Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Dan D; Zhang, Zhao Z; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Chen, Chao C; Zhang, Xipeng X
Publication Date: 2019-05-22

Variant appearance in text: APC: 289G>A; Gly97Arg
PubMed Link: 31113927
Variant Present in the following documents:
  • Main text
  • medscimonit-25-3796.pdf
View BVdb publication page



Adaptation of the autotrophic acetogen Sporomusa ovata to methanol accelerates the conversion of CO2 to organic products.

Scientific Reports
Tremblay, Pier-Luc PL; Höglund, Daniel D; Koza, Anna A; Bonde, Ida I; Zhang, Tian T
Publication Date: 2015-11-04

Variant appearance in text: APC: G97R
PubMed Link: 26530351
Variant Present in the following documents:
  • srep16168-s1.pdf
View BVdb publication page