APC c.847C>T ;(p.R283*)

Variant ID: 5-112151204-C-T

NM_000038.5(APC):c.847C>T;(p.R283*)

This variant was identified in 95 publications

View GRCh38 version.




Publications:


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: 847C>T; Arg283Ter; rs786201856
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: APC: 847C>T; R283*; rs786201856
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
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: 847C>T; Arg283Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: APC: R283*
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
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: APC: R283*; rs786201856
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: APC: R283*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology
Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H
Publication Date: 2022

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 36425562
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Phenotypic plasticity and genetic control in colorectal cancer evolution.

Nature
Househam, Jacob J; Heide, Timon T; Cresswell, George D GD; Spiteri, Inmaculada I; Kimberley, Chris C; Zapata, Luis L; Lynn, Claire C; James, Chela C; Mossner, Maximilian M; Fernandez-Mateos, Javier J; Vinceti, Alessandro A; Baker, Ann-Marie AM; Gabbutt, Calum C; Berner, Alison A; Schmidt, Melissa M; Chen, Bingjie B; Lakatos, Eszter E; Gunasri, Vinaya V; Nichol, Daniel D; Costa, Helena H; Mitchinson, Miriam M; Ramazzotti, Daniele D; Werner, Benjamin B; Iorio, Francesco F; Jansen, Marnix M; Caravagna, Giulio G; Barnes, Chris P CP; Shibata, Darryl D; Bridgewater, John J; Rodriguez-Justo, Manuel M; Magnani, Luca L; Sottoriva, Andrea A; Graham, Trevor A TA
Publication Date: 2022-11

Variant appearance in text: APC: R283*
PubMed Link: 36289336
Variant Present in the following documents:
  • 41586_2022_5311_MOESM10_ESM.xlsx, sheet 1
  • 41586_2022_Article_5311.pdf
View BVdb publication page



Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.

Acta Neuropathologica
Goschzik, Tobias T; Mynarek, Martin M; Doerner, Evelyn E; Schenk, Alina A; Spier, Isabel I; Warmuth-Metz, Monika M; Bison, Brigitte B; Obrecht, Denise D; Struve, Nina N; Kortmann, Rolf-Dieter RD; Schmid, Matthias M; Aretz, Stefan S; Rutkowski, Stefan S; Pietsch, Torsten T
Publication Date: 2022-12

Variant appearance in text: APC: R283*
PubMed Link: 36181537
Variant Present in the following documents:
  • Main text
  • 401_2022_Article_2505.pdf
View BVdb publication page



Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.

Cell Communication And Signaling : Ccs
Georgescu, Maria-Magdalena MM; Whipple, Stephen G SG; Notarianni, Christina M CM
Publication Date: 2022-08-17

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 35978432
Variant Present in the following documents:
  • Main text
  • 12964_2022_Article_930.pdf
  • 12964_2022_930_MOESM2_ESM.pdf
View BVdb publication page



Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Nature Genetics
Rouhani, Foad J FJ; Zou, Xueqing X; Danecek, Petr P; Badja, Cherif C; Amarante, Tauanne Dias TD; Koh, Gene G; Wu, Qianxin Q; Memari, Yasin Y; Durbin, Richard R; Martincorena, Inigo I; Bassett, Andrew R AR; Gaffney, Daniel D; Nik-Zainal, Serena S
Publication Date: 2022-09

Variant appearance in text: APC: R283*
PubMed Link: 35953586
Variant Present in the following documents:
  • 41588_2022_1147_MOESM4_ESM.xlsx, sheet 5
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: R283*
PubMed Link: 35872559
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics
Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM
Publication Date: 2022-05-05

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: APC: R283*
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: APC: 847C>T
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Frontiers In Oncology
Kyrochristos, Ioannis D ID; Glantzounis, Georgios K GK; Goussia, Anna A; Eliades, Alexia A; Achilleos, Achilleas A; Tsangaras, Kyriakos K; Hadjidemetriou, Irene I; Elpidorou, Marilena M; Ioannides, Marios M; Koumbaris, George G; Mitsis, Michail M; Patsalis, Philippos C PC; Roukos, Dimitrios D
Publication Date: 2022

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 35402285
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
  • Table_1.xlsx, sheet 2
  • Table_1.xlsx, sheet 6
View BVdb publication page



Beyond Circulating Tumor Cell Enumeration: Cell-Based Liquid Biopsy to Assess Protein Biomarkers and Cancer Genomics Using the RareCyte® Platform.

Frontiers In Pharmacology
Kaldjian, Eric P EP; Ramirez, Arturo B AB; Costandy, Lillian L; Ericson, Nolan G NG; Malkawi, Walla I WI; George, Thaddeus C TC; Kasi, Pashtoon Murtaza PM
Publication Date: 2022

Variant appearance in text: APC: R283*
PubMed Link: 35308236
Variant Present in the following documents:
  • Main text
  • fphar-13-835727.pdf
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: APC: R283*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
View BVdb publication page



Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report.

Frontiers In Endocrinology
Hong, Christopher S CS; Elsamadicy, Aladine A AA; Fisayo, Adeniyi A; Inzucchi, Silvio E SE; Gopal, Pallavi P PP; Vining, Eugenia M EM; Erson-Omay, E Zeynep EZ; Bulent Omay, Sacit S
Publication Date: 2021

Variant appearance in text: rs786201856
PubMed Link: 34925233
Variant Present in the following documents:
  • Main text
  • fendo-12-762095.pdf
View BVdb publication page



Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s002.xlsx, sheet 1
  • ADVS-9-2103360-s002.xlsx, sheet 2
View BVdb publication page



Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.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: 847C>T; Arg283*
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
View BVdb publication page



Genomic profiling of a patient with quadruple synchronous colorectal cancer: a case report.

Bmc Gastroenterology
Jia, Xiongjie X; Peng, Xinyu X; Sun, Junjie J; Zhang, Tao T; Lin, Hengxue H; Bai, Tianliang T; Zhang, Aimin A
Publication Date: 2021-10-02

Variant appearance in text: APC: R283*
PubMed Link: 34600484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations.

Neuro-Oncology Advances
Hong, Christopher S CS; Omuro, Antonio A; An, Yi Y; Inzucchi, Silvio E SE; Kohli, Anita A AA; McGuone, Declan D; Vining, Eugenia M EM; Omay, Sacit Bulent SB; Erson-Omay, E Zeynep EZ
Publication Date: 2021

Variant appearance in text: rs786201856
PubMed Link: 34549183
Variant Present in the following documents:
  • Main text
  • vdab124.pdf
View BVdb publication page



Mitogen-activated protein kinase activity drives cell trajectories in colorectal cancer.

Embo Molecular Medicine
Uhlitz, Florian F; Bischoff, Philip P; Peidli, Stefan S; Sieber, Anja A; Trinks, Alexandra A; Lüthen, Mareen M; Obermayer, Benedikt B; Blanc, Eric E; Ruchiy, Yana Y; Sell, Thomas T; Mamlouk, Soulafa S; Arsie, Roberto R; Wei, Tzu-Ting TT; Klotz-Noack, Kathleen K; Schwarz, Roland F RF; Sawitzki, Birgit B; Kamphues, Carsten C; Beule, Dieter D; Landthaler, Markus M; Sers, Christine C; Horst, David D; Blüthgen, Nils N; Morkel, Markus M
Publication Date: 2021-10-07

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 34409732
Variant Present in the following documents:
  • EMMM-13-e14123-s009.xls, 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: R283*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Oncotarget
Barakeh, Duna H DH; Aljelaify, Rasha R; Bashawri, Yara Y; Almutairi, Amal A; Alqubaishi, Fatimah F; Alnamnakani, Mohammed M; Almubarak, Latifa L; Al Naeem, Abdulrahman A; Almushawah, Fatema F; Alrashed, May M; Abedalthagafi, Malak M
Publication Date: 2021-03-30

Variant appearance in text: APC: 847C>T; R283X
PubMed Link: 33868589
Variant Present in the following documents:
  • oncotarget-12-686-s002.xlsx, sheet 1
View BVdb publication page



Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16

Variant appearance in text: APC: R283*; rs786201856
PubMed Link: 33796225
Variant Present in the following documents:
  • oncotarget-12-578-s005.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: 847C>T; R283*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: APC: R283*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
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: 847C>T; R283*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



On-treatment measurements of circulating tumor DNA during FOLFOX therapy in patients with colorectal cancer.

Npj Precision Oncology
Moser, Tina T; Waldispuehl-Geigl, Julie J; Belic, Jelena J; Weber, Sabrina S; Zhou, Qing Q; Hasenleithner, Samantha O SO; Graf, Ricarda R; Terzic, Jasmin Alia JA; Posch, Florian F; Sill, Heinz H; Lax, Sigurd S; Kashofer, Karl K; Hoefler, Gerald G; Schoellnast, Helmut H; Heitzer, Ellen E; Geigl, Jochen B JB; Bauernhofer, Thomas T; Speicher, Michael R MR
Publication Date: 2020-11-13

Variant appearance in text: APC: Arg283*
PubMed Link: 33299124
Variant Present in the following documents:
  • 41698_2020_134_MOESM1_ESM.pdf
View BVdb publication page



Short tandem repeat profiling for the authentication of cancer stem-like cells.

International Journal Of Cancer
Visconti, Paola P; Parodi, Federica F; Parodi, Barbara B; Casarino, Lucia L; Romano, Paolo P; Buccarelli, Mariachiara M; Pallini, Roberto R; D'Alessandris, Quintino Giorgio QG; Montori, Andrea A; Pilozzi, Emanuela E; Ricci-Vitiani, Lucia L
Publication Date: 2021-03-15

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 33128777
Variant Present in the following documents:
  • IJC-148-1489-s001.pdf
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: APC: R283*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Evaluation of the RAS signaling network in response to MEK inhibition using organoids derived from a familial adenomatous polyposis patient.

Scientific Reports
Osumi, Hiroki H; Muroi, Atsushi A; Sakahara, Mizuho M; Kawachi, Hiroshi H; Okamoto, Takuya T; Natsume, Yasuko Y; Yamanaka, Hitomi H; Takano, Hiroshi H; Kusama, Daisuke D; Shinozaki, Eiji E; Ooki, Akira A; Yamaguchi, Kensei K; Ueno, Masashi M; Takeuchi, Kengo K; Noda, Tetsuo T; Nagayama, Satoshi S; Koshikawa, Naohiko N; Yao, Ryoji R
Publication Date: 2020-10-15

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 33060766
Variant Present in the following documents:
  • 41598_2020_74530_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: APC: R283*
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Bmc Biology
Mamlouk, Soulafa S; Simon, Tincy T; Tomás, Laura L; Wedge, David C DC; Arnold, Alexander A; Menne, Andrea A; Horst, David D; Capper, David D; Morkel, Markus M; Posada, David D; Sers, Christine C; Bläker, Hendrik H
Publication Date: 2020-09-07

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 32895052
Variant Present in the following documents:
  • 12915_2020_844_MOESM1_ESM.pdf
  • 12915_2020_844_MOESM3_ESM.xlsx, sheet 1
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: R283*
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
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: R283*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, 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: R283X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: APC: R283*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: R283*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Long-term survival of two patients with recurrent pancreatic acinar cell carcinoma treated with radiofrequency ablation: A case report.

World Journal Of Clinical Cases
Di Marco, Mariacristina M; Carloni, Riccardo R; De Lorenzo, Stefania S; Grassi, Elisa E; Palloni, Andrea A; Formica, Francesca F; Brocchi, Stefano S; Filippini, Daria Maria DM; Golfieri, Rita R; Brandi, Giovanni G
Publication Date: 2020-04-06

Variant appearance in text: APC: 847C>T
PubMed Link: 32337198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04

Variant appearance in text: APC: Arg283Ter; rs786201856
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Plos Genetics
Fang, Hu H; Barbour, Jayne A JA; Poulos, Rebecca C RC; Katainen, Riku R; Aaltonen, Lauri A LA; Wong, Jason W H JWH
Publication Date: 2020-02

Variant appearance in text: APC: R283*
PubMed Link: 32012149
Variant Present in the following documents:
  • pgen.1008572.s012.xlsx, sheet 1
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: 847C>T; R283*
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



Establishment of patient-derived xenograft model of peritoneal mucinous carcinomatosis with signet ring cells and in vivo study on the efficacy and toxicity of intraperitoneal injection of 5-fluorouracil.

Cancer Medicine
Lin, Yu-Lin YL; Zhang, Jue J; Yan, Feng-Cai FC; Jiang, Xi X; Ma, Ru R; Yang, Zhi-Ran ZR; Xu, Hong-Bin HB; Peng, Zheng Z; Chen, Qian Q; Li, Yan Y
Publication Date: 2020-02

Variant appearance in text: APC: R283X
PubMed Link: 31814323
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: APC: R283*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut
Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F
Publication Date: 2020-07

Variant appearance in text: APC: Arg283*
PubMed Link: 31744909
Variant Present in the following documents:
  • gutjnl-2019-319438supp006.xlsx, sheet 2
  • gutjnl-2019-319438supp005.xlsx, sheet 3
  • gutjnl-2019-319438supp006.xlsx, sheet 1
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: APC: R283X
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
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: APC: Arg283*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
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: 847C>T; Arg283Ter
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: APC: Arg283Ter
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: APC: 847C>T; R283*
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Correlation between early dynamics in circulating tumour DNA and outcome from FOLFIRI treatment in metastatic colorectal cancer.

Scientific Reports
Lyskjær, Iben I; Kronborg, Camilla Skovhus CS; Rasmussen, Mads Heilskov MH; Sørensen, Boe Sandahl BS; Demuth, Christina C; Rosenkilde, Mona M; Johansen, Amanda Frydendahl Boll AFB; Knudsen, Michael M; Vang, Søren S; Krag, Søren Rasmus Palmelund SRP; Spindler, Karen-Lise Garm KG; Andersen, Claus Lindbjerg CL
Publication Date: 2019-08-08

Variant appearance in text: APC: Arg283*
PubMed Link: 31395942
Variant Present in the following documents:
  • 41598_2019_47708_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Cancer Medicine
Chang, Ya-Sian YS; Lee, Chien-Chin CC; Ke, Tao-Wei TW; Chang, Chieh-Min CM; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG
Publication Date: 2019-07

Variant appearance in text: APC: R283*
PubMed Link: 31127692
Variant Present in the following documents:
  • Main text
  • CAM4-8-3738.pdf
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: APC: R283*
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
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: APC: R283X
PubMed Link: 30925167
Variant Present in the following documents:
  • pgen.1008076.s018.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.

Cancer Medicine
de Oliveira, Junea C JC; Viana, Danilo V DV; Zanardo, Cleyton C; Santos, Erika M M EMM; de Paula, André E AE; Palmero, Edenir I EI; Rossi, Benedito M BM
Publication Date: 2019-05

Variant appearance in text: APC: 847C>T; Arg283Ter
PubMed Link: 30897307
Variant Present in the following documents:
  • Main text
  • CAM4-8-2114.pdf
View BVdb publication page