APC c.2805C>A ;(p.Y935*)

Variant ID: 5-112174096-C-A

NM_000038.5(APC):c.2805C>A;(p.Y935*)

This variant was identified in 59 publications

View GRCh38 version.




Publications:


Propagated Circulating Tumor Cells Uncover the Potential Role of NFκB, EMT, and TGFβ Signaling Pathways and COP1 in Metastasis.

Cancers
Xiao, Jerry J; Sharma, Utsav U; Arab, Abolfazl A; Miglani, Sohit S; Bhalla, Sonakshi S; Suguru, Shravanthy S; Suter, Robert R; Mukherji, Reetu R; Lippman, Marc E ME; Pohlmann, Paula R PR; Zeck, Jay C JC; Marshall, John L JL; Weinberg, Benjamin A BA; He, Aiwu Ruth AR; Noel, Marcus S MS; Schlegel, Richard R; Goodarzi, Hani H; Agarwal, Seema S
Publication Date: 2023-03-17

Variant appearance in text: APC: 2805C>A
PubMed Link: 36980717
Variant Present in the following documents:
  • cancers-15-01831.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: APC: 2805C>A; Tyr935Ter; rs137854575
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 2805C>A; Tyr935Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: N/A
PubMed Link: 36742322
Variant Present in the following documents:
View BVdb publication page



"Proteotranscriptomic analysis of advanced colorectal cancer patient derived organoids for drug sensitivity prediction".

Journal Of Experimental & Clinical Cancer Research : Cr
Papaccio, Federica F; García-Mico, Blanca B; Gimeno-Valiente, Francisco F; Cabeza-Segura, Manuel M; Gambardella, Valentina V; Gutiérrez-Bravo, María Fernanda MF; Alfaro-Cervelló, Clara C; Martinez-Ciarpaglini, Carolina C; Rentero-Garrido, Pilar P; Zúñiga-Trejos, Sheila S; Carbonell-Asins, Juan Antonio JA; Fleitas, Tania T; Roselló, Susana S; Huerta, Marisol M; Sánchez Del Pino, Manuel M MM; Sabater, Luís L; Roda, Desamparados D; Tarazona, Noelia N; Cervantes, Andrés A; Castillo, Josefa J
Publication Date: 2023-01-06

Variant appearance in text: APC: Y935*
PubMed Link: 36604765
Variant Present in the following documents:
  • Main text
  • 13046_2022_Article_2591.pdf
View BVdb publication page



Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature.

Neoplasia (New York, N.Y.)
Martens-de Kemp, Sanne R SR; Komor, Malgorzata A MA; Hegi, Rosa R; Bolijn, Anne S AS; Tijssen, Marianne M; de Groen, Florence L M FLM; Depla, Annekatrien A; van Leerdam, Monique M; Meijer, Gerrit A GA; Fijneman, Remond J A RJA; Carvalho, Beatriz B
Publication Date: 2022-10

Variant appearance in text: APC: Y935*
PubMed Link: 35872559
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Reply to Serrano et al. Comment on "Colletti et al. Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study. Cancers 2022, 14, 298".

Cancers
Colletti, Gaia G; Ciniselli, Chiara Maura CM; Rausa, Emanuele E; Signoroni, Stefano S; Cocco, Ivana Maria Francesca IMF; Magarotto, Andrea A; Ricci, Maria Teresa MT; Brignola, Clorinda C; Mancini, Andrea A; Cavalcoli, Federica F; Cattaneo, Laura L; Milione, Massimo M; Verderio, Paolo P; Vitellaro, Marco M
Publication Date: 2022-07-01

Variant appearance in text: APC: 2805C>A; Tyr935*
PubMed Link: 35805013
Variant Present in the following documents:
  • cancers-14-03241.pdf
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Prognostic Impact of An Integrative Landscape of Clinical, Immune, and Molecular Features in Non-Metastatic Rectal Cancer.

Frontiers In Oncology
Iseas, Soledad S; Sendoya, Juan M JM; Robbio, Juan J; Coraglio, Mariana M; Kujaruk, Mirta M; Mikolaitis, Vanesa V; Rizzolo, Mariana M; Cabanne, Ana A; Ruiz, Gonzalo G; Salanova, Rubén R; Gualdrini, Ubaldo U; Méndez, Guillermo G; Antelo, Marina M; Carballido, Marcela M; Rotondaro, Cecilia C; Viglino, Julieta J; Eleta, Martín M; Di Sibio, Alejandro A; Podhajcer, Osvaldo L OL; Roca, Enrique E; Llera, Andrea S AS; Golubicki, Mariano M; Abba, Martín Carlos MC
Publication Date: 2021

Variant appearance in text: APC: Y935*
PubMed Link: 35071006
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
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: 2805C>A; Tyr935*
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
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: 2805C>A; Y935*; rs137854575
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: Y935*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Cancers
Aitchison, Alan A; Hakkaart, Christopher C; Day, Robert C RC; Morrin, Helen R HR; Frizelle, Frank A FA; Keenan, Jacqueline I JI
Publication Date: 2020-12-18

Variant appearance in text: APC: 2805C>A; Y935X; rs137854575
PubMed Link: 33352971
Variant Present in the following documents:
  • Main text
  • cancers-12-03829.pdf
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: N/A
PubMed Link: 33106165
Variant Present in the following documents:
View BVdb publication page



PI3K-AKT-mTOR pathway alterations in advanced NSCLC patients after progression on EGFR-TKI and clinical response to EGFR-TKI plus everolimus combination therapy.

Translational Lung Cancer Research
Fang, Wenfeng W; Huang, Yihua Y; Gu, Weiguang W; Gan, Jiadi J; Wang, Wenjing W; Zhang, Shiyue S; Wang, Kai K; Zhan, Jianhua J; Yang, Yunpeng Y; Huang, Yan Y; Zhao, Hongyun H; Zhang, Li L
Publication Date: 2020-08

Variant appearance in text: APC: Y935*
PubMed Link: 32953503
Variant Present in the following documents:
  • Main text
  • tlcr-09-04-1258.pdf
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment
Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2021-01

Variant appearance in text: APC: Y935*
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: APC: Y935*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



The clonal evolution of metastatic colorectal cancer.

Science Advances
Dang, Ha X HX; Krasnick, Bradley A BA; White, Brian S BS; Grossman, Julie G JG; Strand, Matthew S MS; Zhang, Jin J; Cabanski, Christopher R CR; Miller, Christopher A CA; Fulton, Robert S RS; Goedegebuure, S Peter SP; Fronick, Catrina C CC; Griffith, Malachi M; Larson, David E DE; Goetz, Brian D BD; Walker, Jason R JR; Hawkins, William G WG; Strasberg, Steven M SM; Linehan, David C DC; Lim, Kian H KH; Lockhart, A Craig AC; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ; Maher, Christopher A CA; Fields, Ryan C RC
Publication Date: 2020-06

Variant appearance in text: APC: Y935*
PubMed Link: 32577507
Variant Present in the following documents:
  • aay9691.pdf
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: Y935*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

Esmo Open
De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T
Publication Date: 2020-03

Variant appearance in text: APC: Y935*
PubMed Link: 32234730
Variant Present in the following documents:
  • esmoopen-2020-000675supp003.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A novel use of random priming-based single-strand library preparation for whole genome sequencing of formalin-fixed paraffin-embedded tissue samples.

Nar Genomics And Bioinformatics
Saunderson, Emily A EA; Baker, Ann-Marie AM; Williams, Marc M; Curtius, Kit K; Jones, J Louise JL; Graham, Trevor A TA; Ficz, Gabriella G
Publication Date: 2020-03

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 31867579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: N/A
PubMed Link: 31754222
Variant Present in the following documents:
View BVdb publication page



Immunopeptidomics of colorectal cancer organoids reveals a sparse HLA class I neoantigen landscape and no increase in neoantigens with interferon or MEK-inhibitor treatment.

Journal For Immunotherapy Of Cancer
Newey, Alice A; Griffiths, Beatrice B; Michaux, Justine J; Pak, Hui Song HS; Stevenson, Brian J BJ; Woolston, Andrew A; Semiannikova, Maria M; Spain, Georgia G; Barber, Louise J LJ; Matthews, Nik N; Rao, Sheela S; Watkins, David D; Chau, Ian I; Coukos, George G; Racle, Julien J; Gfeller, David D; Starling, Naureen N; Cunningham, David D; Bassani-Sternberg, Michal M; Gerlinger, Marco M
Publication Date: 2019-11-18

Variant appearance in text: APC: Y935X
PubMed Link: 31735170
Variant Present in the following documents:
  • Main text
  • 40425_2019_Article_769.pdf
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 31660073
Variant Present in the following documents:
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: N/A
PubMed Link: 31645765
Variant Present in the following documents:
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: N/A
PubMed Link: 31613886
Variant Present in the following documents:
View BVdb publication page



Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut
Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ
Publication Date: 2020-06

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: N/A
PubMed Link: 30992440
Variant Present in the following documents:
View BVdb publication page



Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Plos Genetics
Schumacher, Dirk D; Andrieux, Geoffroy G; Boehnke, Karsten K; Keil, Marlen M; Silvestri, Alessandra A; Silvestrov, Maxine M; Keilholz, Ulrich U; Haybaeck, Johannes J; Erdmann, Gerrit G; Sachse, Christoph C; Templin, Markus M; Hoffmann, Jens J; Boerries, Melanie M; Schäfer, Reinhold R; Regenbrecht, Christian R A CRA
Publication Date: 2019-03

Variant appearance in text: N/A
PubMed Link: 30925167
Variant Present in the following documents:
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: N/A
PubMed Link: 30867008
Variant Present in the following documents:
View BVdb publication page



Human colon organoids reveal distinct physiologic and oncogenic Wnt responses.

The Journal Of Experimental Medicine
Michels, Birgitta E BE; Mosa, Mohammed H MH; Grebbin, Britta M BM; Yepes, Diego D; Darvishi, Tahmineh T; Hausmann, Johannes J; Urlaub, Henning H; Zeuzem, Stefan S; Kvasnicka, Hans M HM; Oellerich, Thomas T; Farin, Henner F HF
Publication Date: 2019-03-04

Variant appearance in text: N/A
PubMed Link: 30792186
Variant Present in the following documents:
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: APC: 2805C>A; Tyr935Ter
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
View BVdb publication page



Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

Hereditary Cancer In Clinical Practice
Ramírez-Calvo, Marta M; García-Casado, Zaida Z; Fernández-Serra, Antonio A; de Juan, Inmaculada I; Palanca, Sarai S; Oltra, Silvestre S; Soto, José Luis JL; Castillejo, Adela A; Barbera, Víctor M VM; Juan-Fita, Ma José MJ; Segura, Ángel Á; Chirivella, Isabel I; Sánchez, Ana Beatriz AB; Tena, Isabel I; Chaparro, Carolina C; Salas, Dolores D; López-Guerrero, José Antonio JA
Publication Date: 2019

Variant appearance in text: APC: 2805C>A; Tyr935Ter
PubMed Link: 30675318
Variant Present in the following documents:
  • Main text
  • 13053_2019_Article_104.pdf
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The Lancet. Oncology
Waszak, Sebastian M SM; Northcott, Paul A PA; Buchhalter, Ivo I; Robinson, Giles W GW; Sutter, Christian C; Groebner, Susanne S; Grund, Kerstin B KB; Brugières, Laurence L; Jones, David T W DTW; Pajtler, Kristian W KW; Morrissy, A Sorana AS; Kool, Marcel M; Sturm, Dominik D; Chavez, Lukas L; Ernst, Aurelie A; Brabetz, Sebastian S; Hain, Michael M; Zichner, Thomas T; Segura-Wang, Maia M; Weischenfeldt, Joachim J; Rausch, Tobias T; Mardin, Balca R BR; Zhou, Xin X; Baciu, Cristina C; Lawerenz, Christian C; Chan, Jennifer A JA; Varlet, Pascale P; Guerrini-Rousseau, Lea L; Fults, Daniel W DW; Grajkowska, Wiesława W; Hauser, Peter P; Jabado, Nada N; Ra, Young-Shin YS; Zitterbart, Karel K; Shringarpure, Suyash S SS; De La Vega, Francisco M FM; Bustamante, Carlos D CD; Ng, Ho-Keung HK; Perry, Arie A; MacDonald, Tobey J TJ; Hernáiz Driever, Pablo P; Bendel, Anne E AE; Bowers, Daniel C DC; McCowage, Geoffrey G; Chintagumpala, Murali M MM; Cohn, Richard R; Hassall, Timothy T; Fleischhack, Gudrun G; Eggen, Tone T; Wesenberg, Finn F; Feychting, Maria M; Lannering, Birgitta B; Schüz, Joachim J; Johansen, Christoffer C; Andersen, Tina V TV; Röösli, Martin M; Kuehni, Claudia E CE; Grotzer, Michael M; Kjaerheim, Kristina K; Monoranu, Camelia M CM; Archer, Tenley C TC; Duke, Elizabeth E; Pomeroy, Scott L SL; Shelagh, Redmond R; Frank, Stephan S; Sumerauer, David D; Scheurlen, Wolfram W; Ryzhova, Marina V MV; Milde, Till T; Kratz, Christian P CP; Samuel, David D; Zhang, Jinghui J; Solomon, David A DA; Marra, Marco M; Eils, Roland R; Bartram, Claus R CR; von Hoff, Katja K; Rutkowski, Stefan S; Ramaswamy, Vijay V; Gilbertson, Richard J RJ; Korshunov, Andrey A; Taylor, Michael D MD; Lichter, Peter P; Malkin, David D; Gajjar, Amar A; Korbel, Jan O JO; Pfister, Stefan M SM
Publication Date: 2018-06

Variant appearance in text: APC: 2805C>A; Tyr935Ter; rs137854575
PubMed Link: 29753700
Variant Present in the following documents:
  • mmc1.pdf
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Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Oncotarget
Hou, Helei H; Liu, Dong D; Zhang, Chuantao C; Jiang, Yanxia Y; Lu, Guifang G; Zhou, Na N; Yang, Xiaonan X; Zhang, Xiaoping X; Li, Zhuokun Z; Zhu, Hongmei H; Qian, Zhaoyang Z; Zhang, Xiaochun X
Publication Date: 2017-12-01

Variant appearance in text: N/A
PubMed Link: 29285234
Variant Present in the following documents:
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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: N/A
PubMed Link: 29245953
Variant Present in the following documents:
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The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: APC: 2805C>A; Tyr935Ter
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 17
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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: 2805C>A; Tyr935Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Scientific Reports
Khan, Nikhat N; Lipsa, Anuja A; Arunachal, Gautham G; Ramadwar, Mukta M; Sarin, Rajiv R
Publication Date: 2017-05-22

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 28533537
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2319.pdf
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CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: APC: 2805C>A; Tyr935Ter; rs137854575
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
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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: N/A
PubMed Link: 28186126
Variant Present in the following documents:
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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s003.xlsx, sheet 1
  • pone.0170843.s004.xlsx, 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: 2805C>A; Y935*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: APC: Tyr935X
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
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Clinicopathological features of familial adenomatous polyposis in Korean patients.

World Journal Of Gastroenterology
Jung, Sung Min SM; Yoon, Yong Sik YS; Lim, Seok-Byeong SB; Yu, Chang Sik CS; Kim, Jin Cheon JC
Publication Date: 2016-05-07

Variant appearance in text: N/A
PubMed Link: 27158207
Variant Present in the following documents:
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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: N/A
PubMed Link: 27149842
Variant Present in the following documents:
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Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.

The Journal Of Pathology
Rashid, Mamunur M; Fischer, Andrej A; Wilson, Cathy H CH; Tiffen, Jessamy J; Rust, Alistair G AG; Stevens, Philip P; Idziaszczyk, Shelley S; Maynard, Julie J; Williams, Geraint T GT; Mustonen, Ville V; Sampson, Julian R JR; Adams, David J DJ
Publication Date: 2016-01

Variant appearance in text: APC: Tyr935X
PubMed Link: 26414517
Variant Present in the following documents:
  • PATH-238-98-s007.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

Hereditary Cancer In Clinical Practice
Simbolo, Michele M; Mafficini, Andrea A; Agostini, Marco M; Pedrazzani, Corrado C; Bedin, Chiara C; Urso, Emanuele D ED; Nitti, Donato D; Turri, Giona G; Scardoni, Maria M; Fassan, Matteo M; Scarpa, Aldo A
Publication Date: 2015

Variant appearance in text: APC: 2805C>A; Y935*
PubMed Link: 26300997
Variant Present in the following documents:
  • Main text
  • 13053_2015_Article_39.pdf
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Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours.

British Journal Of Cancer
Singh, R R RR; Patel, K P KP; Routbort, M J MJ; Aldape, K K; Lu, X X; Manekia, J J; Abraham, R R; Reddy, N G NG; Barkoh, B A BA; Veliyathu, J J; Medeiros, L J LJ; Luthra, R R
Publication Date: 2014-11-11

Variant appearance in text: APC: Y935*
PubMed Link: 25314059
Variant Present in the following documents:
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Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Human Genetics
Borun, Pawel P; Kubaszewski, Lukasz L; Banasiewicz, Tomasz T; Walkowiak, Jaroslaw J; Skrzypczak-Zielinska, Marzena M; Kaczmarek-Rys, Marta M; Plawski, Andrzej A
Publication Date: 2014-05

Variant appearance in text: APC: 2805C>A
PubMed Link: 24233542
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1393.pdf
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Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One
Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY
Publication Date: 2013

Variant appearance in text: APC: Y935*
PubMed Link: 23700467
Variant Present in the following documents:
  • pone.0064271.s004.xlsx, sheet 1
View BVdb publication page



Novel mutations target distinct subgroups of medulloblastoma.

Nature
Robinson, Giles G; Parker, Matthew M; Kranenburg, Tanya A TA; Lu, Charles C; Chen, Xiang X; Ding, Li L; Phoenix, Timothy N TN; Hedlund, Erin E; Wei, Lei L; Zhu, Xiaoyan X; Chalhoub, Nader N; Baker, Suzanne J SJ; Huether, Robert R; Kriwacki, Richard R; Curley, Natasha N; Thiruvenkatam, Radhika R; Wang, Jianmin J; Wu, Gang G; Rusch, Michael M; Hong, Xin X; Becksfort, Jared J; Gupta, Pankaj P; Ma, Jing J; Easton, John J; Vadodaria, Bhavin B; Onar-Thomas, Arzu A; Lin, Tong T; Li, Shaoyi S; Pounds, Stanley S; Paugh, Steven S; Zhao, David D; Kawauchi, Daisuke D; Roussel, Martine F MF; Finkelstein, David D; Ellison, David W DW; Lau, Ching C CC; Bouffet, Eric E; Hassall, Tim T; Gururangan, Sridharan S; Cohn, Richard R; Fulton, Robert S RS; Fulton, Lucinda L LL; Dooling, David J DJ; Ochoa, Kerri K; Gajjar, Amar A; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Zhang, Jinghui J; Gilbertson, Richard J RJ
Publication Date: 2012-08-02

Variant appearance in text: APC: Y935*
PubMed Link: 22722829
Variant Present in the following documents:
  • Main text
  • nihms-374717.pdf
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Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: APC: 2805C>A; Tyr935X
PubMed Link: 17411426
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-16.pdf
View BVdb publication page