APC c.3595A>T ;(p.K1199*)

Variant ID: 5-112174886-A-T

NM_000038.5(APC):c.3595A>T;(p.K1199*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal Of Clinical Laboratory Analysis
Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F
Publication Date: 2021-05

Variant appearance in text: APC: Lys1199Term
PubMed Link: 33769591
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23768.pdf
View BVdb publication page



Prevalence of APC and PTEN Alterations in Urachal Cancer.

Pathology Oncology Research : Por
Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Módos, Orsolya O; Szendrői, Attila A; Bíró, Krisztina K; Hager, Thomas T; Herold, Thomas T; Ablat, Jason J; Black, Peter C PC; Okon, Krzysztof K; Tolkach, Yuri Y; Csizmarik, Anita A; Oláh, Csilla C; Keresztes, David D; Bremmer, Felix F; Gaisa, Nadine T NT; Kriegsmann, Joerg J; Kovalszky, Ilona I; Kiss, András A; Tímár, József J; Szász, Marcell A MA; Rink, Michael M; Fisch, Margit M; Nyirády, Péter P; Szarvas, Tibor T
Publication Date: 2020-10

Variant appearance in text: APC: K1199*
PubMed Link: 32754865
Variant Present in the following documents:
  • Main text
  • 12253_2020_Article_872.pdf
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: K1199X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Comparative genomic profiling of glandular bladder tumours.

Virchows Archiv : An International Journal Of Pathology
Maurer, Angela A; Ortiz-Bruechle, Nadina N; Guricova, Karolina K; Rose, Michael M; Morsch, Ronja R; Garczyk, Stefan S; Stöhr, Robert R; Bertz, Simone S; Golz, Reinhard R; Reis, Henning H; Bremmer, Felix F; Zimpfer, Annette A; Siegert, Sabine S; Kristiansen, Glen G; Schwamborn, Kristina K; Gassler, Nikolaus N; Knuechel, Ruth R; Gaisa, Nadine T NT; ,
Publication Date: 2020-09

Variant appearance in text: APC: K1199*
PubMed Link: 32198650
Variant Present in the following documents:
  • Main text
  • 428_2020_Article_2787.pdf
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: K1199X
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page