APC c.3512G>A ;(p.R1171H)

Variant ID: 5-112174803-G-A

NM_000038.5(APC):c.3512G>A;(p.R1171H)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A novel 3D pillar/well array platform using patient-derived head and neck tumor to predict the individual radioresponse.

Translational Oncology
Lee, Dong Woo DW; Choi, Sung Yong SY; Kim, Soo Yoon SY; Kim, Hye Jin HJ; Shin, Da-Yong DY; Shim, Joonho J; Ku, Bosung B; Oh, Dongryul D; Chung, Man Ki MK
Publication Date: 2022-10

Variant appearance in text: APC: R1171H
PubMed Link: 35850059
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: APC: R1171H
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Cancer-Related Mutations Are Not Enriched in Naive Human Pluripotent Stem Cells.

Cell Stem Cell
Stirparo, Giuliano Giuseppe GG; Smith, Austin A; Guo, Ge G
Publication Date: 2021-01-07

Variant appearance in text: APC: R1171H
PubMed Link: 33321074
Variant Present in the following documents:
  • mmc3.pdf
  • mmc4.pdf
View BVdb publication page



Combating acquired resistance to MAPK inhibitors in melanoma by targeting Abl1/2-mediated reactivation of MEK/ERK/MYC signaling.

Nature Communications
Tripathi, Rakshamani R; Liu, Zulong Z; Jain, Aditi A; Lyon, Anastasia A; Meeks, Christina C; Richards, Dana D; Liu, Jinpeng J; He, Daheng D; Wang, Chi C; Nespi, Marika M; Rymar, Andrey A; Wang, Peng P; Wilson, Melissa M; Plattner, Rina R
Publication Date: 2020-10-29

Variant appearance in text: APC: 3512G>A; R1171H
PubMed Link: 33122628
Variant Present in the following documents:
  • 41467_2020_19075_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_19075_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_19075_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: APC: 3512G>A; R1171H
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Nature Communications
Lin, Weitao W; Yip, Yim Ling YL; Jia, Lin L; Deng, Wen W; Zheng, Hong H; Dai, Wei W; Ko, Josephine Mun Yee JMY; Lo, Kwok Wai KW; Chung, Grace Tin Yun GTY; Yip, Kevin Y KY; Lee, Sau-Dan SD; Kwan, Johnny Sheung-Him JS; Zhang, Jun J; Liu, Tengfei T; Chan, Jimmy Yu-Wai JY; Kwong, Dora Lai-Wan DL; Lee, Victor Ho-Fun VH; Nicholls, John Malcolm JM; Busson, Pierre P; Liu, Xuefeng X; Chiang, Alan Kwok Shing AKS; Hui, Kwai Fung KF; Kwok, Hin H; Cheung, Siu Tim ST; Cheung, Yuk Chun YC; Chan, Chi Keung CK; Li, Bin B; Cheung, Annie Lai-Man AL; Hau, Pok Man PM; Zhou, Yuan Y; Tsang, Chi Man CM; Middeldorp, Jaap J; Chen, Honglin H; Lung, Maria Li ML; Tsao, Sai Wah SW
Publication Date: 2018-11-07

Variant appearance in text: APC: 3512G>A; Arg1171His
PubMed Link: 30405107
Variant Present in the following documents:
  • 41467_2018_6889_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs372481703
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: APC: R1171H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: APC: 3512G>A; R1171H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APC: R1171H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Next generation sequencing of exceptional responders with BRAF-mutant melanoma: implications for sensitivity and resistance.

Bmc Cancer
Wheler, Jennifer J; Yelensky, Roman R; Falchook, Gerald G; Kim, Kevin B KB; Hwu, Patrick P; Tsimberidou, Apostolia M AM; Stephens, Philip J PJ; Hong, David D; Cronin, Maureen T MT; Kurzrock, Razelle R
Publication Date: 2015-02-18

Variant appearance in text: APC: R1171H
PubMed Link: 25886620
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1029.pdf
View BVdb publication page



Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.

Journal Of Clinical Pathology
Ross, J S JS; Wang, K K; Rand, J V JV; Gay, L L; Presta, M J MJ; Sheehan, C E CE; Ali, S M SM; Elvin, J A JA; Labrecque, E E; Hiemstra, C C; Buell, J J; Otto, G A GA; Yelensky, R R; Lipson, D D; Morosini, D D; Chmielecki, J J; Miller, V A VA; Stephens, P J PJ
Publication Date: 2014-11

Variant appearance in text: APC: R1171H
PubMed Link: 25078331
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased variance in germline allele-specific expression of APC associates with colorectal cancer.

Gastroenterology
Curia, Maria Cristina MC; De Iure, Sabrina S; De Lellis, Laura L; Veschi, Serena S; Mammarella, Sandra S; White, Marquitta J MJ; Bartlett, Jacquelaine J; Di Iorio, Angelo A; Amatetti, Cristina C; Lombardo, Marco M; Di Gregorio, Patrizia P; Battista, Pasquale P; Mariani-Costantini, Renato R; Williams, Scott M SM; Cama, Alessandro A
Publication Date: 2012-01

Variant appearance in text: APC: 3512G>A; Arg1171His
PubMed Link: 21995949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: APC: R1171H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page