APC c.2107dup ;(p.A703Gfs*3)

Variant ID: 5-112173393-T-TG

NM_000038.5(APC):c.2107dup;(p.A703Gfs*3)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APC: 2107dup; Ala703fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 2107dupG; Ala703fs
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
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: 2103dupG
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, 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: A703Gfs*3
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: APC: 2102_2103insG; Ala703fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page



DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas.

Neuro-Oncology
Korshunov, Andrey A; Sahm, Felix F; Zheludkova, Olga O; Golanov, Andrey A; Stichel, Damian D; Schrimpf, Daniel D; Ryzhova, Marina M; Potapov, Alexander A; Habel, Antje A; Meyer, Jochen J; Lichter, Peter P; Jones, David T W DTW; von Deimling, Andreas A; Pfister, Stefan M SM; Kool, Marcel M
Publication Date: 2019-02-14

Variant appearance in text: APC: 2103dupG
PubMed Link: 30252101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of allelic imbalance to colorectal cancer.

Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
Publication Date: 2018-09-10

Variant appearance in text: APC: 2103dupG
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: APC: 2103dupG
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 5
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: 2107dupG; Ala703fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page