APC c.730_732delinsCAT ;(p.R244H)

Variant ID: 5-112136976-AGG-CAT

NM_000038.5(APC):c.730_732delinsCAT;(p.R244H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations.

Scientific Reports
Hatakeyama, Keiichi K; Ohshima, Keiichi K; Nagashima, Takeshi T; Ohnami, Shumpei S; Ohnami, Sumiko S; Serizawa, Masakuni M; Shimoda, Yuji Y; Maruyama, Koji K; Akiyama, Yasuto Y; Urakami, Kenichi K; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Yamaguchi, Ken K
Publication Date: 2018-06-07

Variant appearance in text: APC: R244H
PubMed Link: 29880869
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26967.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: APC: R244H
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Genome Biology
Tan, Iain Beehuat IB; Malik, Simeen S; Ramnarayanan, Kalpana K; McPherson, John R JR; Ho, Dan Liang DL; Suzuki, Yuka Y; Ng, Sarah Boonhsui SB; Yan, Su S; Lim, Kiat Hon KH; Koh, Dennis D; Hoe, Chew Min CM; Chan, Chung Yip CY; Ten, Rachel R; Goh, Brian Kp BK; Chung, Alexander Yf AY; Tan, Joanna J; Chan, Cheryl Xueli CX; Tay, Su Ting ST; Alexander, Lezhava L; Nagarajan, Niranjan N; Hillmer, Axel M AM; Tang, Choon Leong CL; Chua, Clarinda C; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P
Publication Date: 2015-02-12

Variant appearance in text: APC: R244H
PubMed Link: 25808843
Variant Present in the following documents:
  • 13059_2015_589_MOESM4_ESM.pdf
View BVdb publication page