APC c.695G>A ;(p.R232Q)

Variant ID: 5-112128192-G-A

NM_000038.5(APC):c.695G>A;(p.R232Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: APC: R232Q
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: APC: 695G>A; Arg232Gln
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: APC: 695G>A; Arg232Gln; rs201727026
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: APC: R232Q
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_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: R232Q
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: R232Q; rs201727026
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APC: 695G>A; Arg232Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: APC: R232Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Plos One
Vaqué, José P JP; Martínez, Nerea N; Varela, Ignacio I; Fernández, Fidel F; Mayorga, Marta M; Derdak, Sophia S; Beltrán, Sergi S; Moreno, Thaidy T; Almaraz, Carmen C; De Las Heras, Gonzalo G; Bayés, Mónica M; Gut, Ivo I; Crespo, Javier J; Piris, Miguel A MA
Publication Date: 2015

Variant appearance in text: APC: 695G>A; R232H
PubMed Link: 25775023
Variant Present in the following documents:
  • pone.0119946.s007.xls, sheet 1
  • pone.0119946.s007.xls, sheet 2
View BVdb publication page