APC c.694C>T ;(p.R232*)

Variant ID: 5-112128191-C-T

NM_000038.5(APC):c.694C>T;(p.R232*)

This variant was identified in 119 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: 694C>T; R232*; rs397515734
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: 694C>T; Arg232Ter
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: APC: R232*; rs397515734
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Nature Communications
Light, Nicholas N; Layeghifard, Mehdi M; Attery, Ayush A; Subasri, Vallijah V; Zatzman, Matthew M; Anderson, Nathaniel D ND; Hatkar, Rupal R; Blay, Sasha S; Chen, David D; Novokmet, Ana A; Fuligni, Fabio F; Tran, James J; de Borja, Richard R; Agarwal, Himanshi H; Waldman, Larissa L; Abegglen, Lisa M LM; Albertson, Daniel D; Finlay, Jonathan L JL; Hansford, Jordan R JR; Behjati, Sam S; Villani, Anita A; Gerstung, Moritz M; Alexandrov, Ludmil B LB; Somers, Gino R GR; Schiffman, Joshua D JD; Rotter, Varda V; Malkin, David D; Shlien, Adam A
Publication Date: 2023-01-05

Variant appearance in text: APC: R232*
PubMed Link: 36604421
Variant Present in the following documents:
  • 41467_2022_35727_MOESM5_ESM.xlsx, sheet 1
  • 41467_2022_35727_MOESM3_ESM.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: R232*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.

Nature Communications
Flanagan, Dustin J DJ; Amirkhah, Raheleh R; Vincent, David F DF; Gundaz, Nuray N; Gentaz, Pauline P; Cammareri, Patrizia P; McCooey, Aoife J AJ; McCorry, Amy M B AMB; Fisher, Natalie C NC; Davis, Hayley L HL; Ridgway, Rachel A RA; Lohuis, Jeroen J; Leach, Joshua D G JDG; Jackstadt, Rene R; Gilroy, Kathryn K; Mariella, Elisa E; Nixon, Colin C; Clark, William W; Hedley, Ann A; Markert, Elke K EK; Strathdee, Douglas D; Bartholin, Laurent L; Redmond, Keara L KL; Kerr, Emma M EM; Longley, Daniel B DB; Ginty, Fiona F; Cho, Sanghee S; Coleman, Helen G HG; Loughrey, Maurice B MB; Bardelli, Alberto A; Maughan, Timothy S TS; Campbell, Andrew D AD; Lawler, Mark M; Leedham, Simon J SJ; Barry, Simon T ST; Inman, Gareth J GJ; van Rheenen, Jacco J; Dunne, Philip D PD; Sansom, Owen J OJ
Publication Date: 2022-12-07

Variant appearance in text: APC: R232*
PubMed Link: 36477656
Variant Present in the following documents:
  • 41467_2022_35134_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Challenges and opportunities associated with the MD Anderson IMPACT2 randomized study in precision oncology.

Npj Precision Oncology
Vo, Henry Hiep HH; Fu, Siqing S; Hong, David S DS; Karp, Daniel D DD; Piha-Paul, Sarina S; Subbiah, Vivek V; Janku, Filip F; Naing, Aung A; Yap, Timothy A TA; Rodon, Jordi J; Ajani, Jaffer A JA; Cartwright, Carrie C; Johnson, Amber A; Song, I-Wen IW; Beck, Jennifer J; Kahle, Michael M; Nogueras-Gonzalez, Graciela M GM; Miller, Vincent V; Chao, Calvin C; Vining, David J DJ; Berry, Donald A DA; Meric-Bernstam, Funda F; Tsimberidou, Apostolia-Maria AM
Publication Date: 2022-10-27

Variant appearance in text: APC: R232*
PubMed Link: 36302890
Variant Present in the following documents:
  • 41698_2022_317_MOESM1_ESM.pdf
View BVdb publication page



EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.

Journal Of Extracellular Vesicles
Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV
Publication Date: 2022-10

Variant appearance in text: APC: R232X
PubMed Link: 36271888
Variant Present in the following documents:
  • JEV2-11-e12270-s002.xlsx, sheet 1
View BVdb publication page



RNF43 mutations predict response to anti-BRAF/EGFR combinatory therapies in BRAF<sup>V600E</sup> metastatic colorectal cancer.

Nature Medicine
Elez, Elena E; Ros, Javier J; Fernández, Jose J; Villacampa, Guillermo G; Moreno-Cárdenas, Ana Belén AB; Arenillas, Carlota C; Bernatowicz, Kinga K; Comas, Raquel R; Li, Shanshan S; Kodack, David Philip DP; Fasani, Roberta R; Garcia, Ariadna A; Gonzalo-Ruiz, Javier J; Piris-Gimenez, Alejandro A; Nuciforo, Paolo P; Kerr, Grainne G; Intini, Rossana R; Montagna, Aldo A; Germani, Marco Maria MM; Randon, Giovanni G; Vivancos, Ana A; Smits, Ron R; Graus, Diana D; Perez-Lopez, Raquel R; Cremolini, Chiara C; Lonardi, Sara S; Pietrantonio, Filippo F; Dienstmann, Rodrigo R; Tabernero, Josep J; Toledo, Rodrigo A RA
Publication Date: 2022-10

Variant appearance in text: APC: Arg232*
PubMed Link: 36097219
Variant Present in the following documents:
  • 41591_2022_1976_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R232X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors.

Genome Medicine
Wang, Rui R; Li, Jingyun J; Zhou, Xin X; Mao, Yunuo Y; Wang, Wendong W; Gao, Shuai S; Wang, Wei W; Gao, Yuan Y; Chen, Kexuan K; Yu, Shuntai S; Wu, Xinglong X; Wen, Lu L; Ge, Hao H; Fu, Wei W; Tang, Fuchou F
Publication Date: 2022-08-16

Variant appearance in text: APC: Arg232Ter
PubMed Link: 35974387
Variant Present in the following documents:
  • 13073_2022_1093_MOESM2_ESM.pdf
View BVdb publication page



Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports
Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X
Publication Date: 2022-06-10

Variant appearance in text: APC: 694C>T; R232*; rs397515734
PubMed Link: 35688842
Variant Present in the following documents:
  • 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: APC: R232X
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: APC: 694C>T; R232*
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.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: 694C>T; Arg232Ter
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: R232*
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Characteristics Associated With Drug Resistance in Lung Cancer and Colorectal Cancer Using Whole Exome Sequencing of Cell-Free DNA.

Frontiers In Oncology
Lee, Jong Won JW; Park, Young Soo YS; Choi, Jung Yoon JY; Chang, Won Jin WJ; Lee, Soohyeon S; Sung, Jae Sook JS; Kim, Boyeon B; Lee, Saet Byeol SB; Lee, Sung Yong SY; Choi, Jungmin J; Kim, Yeul Hong YH
Publication Date: 2022

Variant appearance in text: APC: R232X
PubMed Link: 35402275
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: APC: R232*
PubMed Link: 35358259
Variant Present in the following documents:
  • Main text
  • pone.0266112.s001.xlsx, sheet 1
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: 694C>T; Arg232Ter; rs397515734
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Bmc Cancer
Yang, Yefan Y; Ding, Ying Y; Gong, Yuxi Y; Zhao, Sha S; Li, Mingna M; Li, Xiao X; Song, Guoxin G; Zhai, Boya B; Liu, Jin J; Shao, Yang Y; Zhu, Liuqing L; Pang, Jiaohui J; Ma, Yutong Y; Ou, Qiuxiang Q; Wu, Xue X; Zhang, Zhihong Z
Publication Date: 2022-02-18

Variant appearance in text: APC: 694C>T; R232*
PubMed Link: 35180847
Variant Present in the following documents:
  • 12885_2022_9279_MOESM3_ESM.xlsx, sheet 1
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: R232*
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



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: 694C>T; Arg232*
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: R232*
PubMed Link: 34600484
Variant Present in the following documents:
  • Main text
  • 12876_2021_Article_1935.pdf
View BVdb publication page



Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine
Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP
Publication Date: 2021-09-06

Variant appearance in text: APC: R232*; rs397515734
PubMed Link: 34488871
Variant Present in the following documents:
  • 13073_2021_958_MOESM2_ESM.xlsx, sheet 15
View BVdb publication page



Extracellular Vesicle-Derived DNA vs. CfDNA as a Biomarker for the Detection of Colon Cancer.

Genes
Thakur, Kavita K; Singh, Manu Smriti MS; Feldstein-Davydova, Sara S; Hannes, Victoria V; Hershkovitz, Dov D; Tsuriel, Shlomo S
Publication Date: 2021-07-29

Variant appearance in text: APC: 694C>T; R232X
PubMed Link: 34440345
Variant Present in the following documents:
  • Main text
  • genes-12-01171.pdf
View BVdb publication page



Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Scientific Reports
Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY
Publication Date: 2021-08-11

Variant appearance in text: APC: 694C>T; Arg232*; rs397515734
PubMed Link: 34381078
Variant Present in the following documents:
  • 41598_2021_95345_MOESM5_ESM.xlsx, sheet 1
  • 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Empowering Clinical Decision Making in Oligometastatic Colorectal Cancer: The Potential Role of Drug Screening of Patient-Derived Organoids.

Jco Precision Oncology
Mauri, Gianluca G; Durinikova, Erika E; Amatu, Alessio A; Tosi, Federica F; Cassingena, Andrea A; Rizzetto, Francesco F; Buzo, Kristi K; Arcella, Pamela P; Aquilano, Maria Costanza MC; Bonoldi, Emanuela E; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A; Sartore-Bianchi, Andrea A; Arena, Sabrina S
Publication Date: 2021-07

Variant appearance in text: APC: R232*
PubMed Link: 34327296
Variant Present in the following documents:
  • po-5-po.21.00143.pdf
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: 694C>T; Arg232*; rs397515734
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
Publication Date: 2021-07-02

Variant appearance in text: APC: Arg232*
PubMed Link: 34215841
Variant Present in the following documents:
  • 41698_2021_202_MOESM1_ESM.pdf
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: R232*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
Publication Date: 2021-07

Variant appearance in text: APC: Arg232*
PubMed Link: 33824501
Variant Present in the following documents:
  • NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf
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: R232*
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: R232*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: APC: R232X; rs397515734
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 14
  • CTM2-11-e285-s003.xlsx, sheet 10
  • CTM2-11-e285-s003.xlsx, sheet 11
  • CTM2-11-e285-s003.xlsx, sheet 12
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: 694C>T; R232*
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: 694C>T; R232X; rs397515734
PubMed Link: 33352971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.

Cancers
Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Chen, Jinn-Shiun JS; Tsai, Wen-Sy WS; You, Jeng-Fu JF; Chen, Chia-Chun CC; Liu, Hsiu-Ling HL; Chiang, Jy-Ming JM
Publication Date: 2020-11-28

Variant appearance in text: APC: 694C>T
PubMed Link: 33260537
Variant Present in the following documents:
  • Main text
  • cancers-12-03560.pdf
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: APC: R232X
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
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: R232*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Tumor Evolution in a Patient with Recurrent Endometrial Cancer and Synchronous Neuroendocrine Cancer and Response to Checkpoint Inhibitor Treatment.

The Oncologist
Trikalinos, Nikolaos A NA; Chatterjee, Deyali D; Winter, Kyle K; Powell, Matthew M; Yano, Motoyo M
Publication Date: 2021-02

Variant appearance in text: APC: R232*
PubMed Link: 32945065
Variant Present in the following documents:
  • Main text
View BVdb publication page



Precision Oncology Strategy in Trastuzumab-Resistant Human Epidermal Growth Factor Receptor 2-Positive Colon Cancer: Case Report of Durable Response to Ado-Trastuzumab Emtansine.

Jco Precision Oncology
Haslem, Derrick S DS; Ji, Hanlee P HP; Ford, James M JM; Nadauld, Lincoln D LD
Publication Date: 2017

Variant appearance in text: APC: R232*
PubMed Link: 32913966
Variant Present in the following documents:
  • Main text
  • PO.16.00055.pdf
View BVdb publication page



Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Cancer Science
Hayashi, Hideyuki H; Tanishima, Shigeki S; Fujii, Kyoko K; Mori, Ryo R; Okada, Chihiro C; Yanagita, Emmy E; Shibata, Yuka Y; Matsuoka, Ryosuke R; Amano, Toraji T; Yamada, Takahiro T; Yabe, Ichiro I; Kinoshita, Ichiro I; Komatsu, Yoshito Y; Dosaka-Akita, Hirotoshi H; Nishihara, Hiroshi H
Publication Date: 2020-10

Variant appearance in text: APC: R232*
PubMed Link: 32772458
Variant Present in the following documents:
  • CAS-111-3926-s001.xlsx, sheet 4
  • CAS-111-3926-s001.xlsx, sheet 5
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: 694C>T; R232*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
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: R232*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy.

Cancers
Yamamoto, Takehito T; Miyoshi, Hiroyuki H; Kakizaki, Fumihiko F; Maekawa, Hisatsugu H; Yamaura, Tadayoshi T; Morimoto, Tomonori T; Katayama, Toshiro T; Kawada, Kenji K; Sakai, Yoshiharu Y; Taketo, M Mark MM
Publication Date: 2020-07-22

Variant appearance in text: APC: 694C>T; R232X
PubMed Link: 32708005
Variant Present in the following documents:
  • cancers-12-02010-s001.pdf
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: R232X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: APC: R232X; rs397515734
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_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: R232*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: APC: 694C>T; Arg232*
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
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: R232*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.

Journal Of Oncology
Harpaz, Noa N; Gatt, Yair Eli YE; Granit, Roy Zvi RZ; Fruchtman, Hila H; Hubert, Ayala A; Grinshpun, Albert A
Publication Date: 2020

Variant appearance in text: APC: R232*
PubMed Link: 32377194
Variant Present in the following documents:
  • 6421205.f1.xlsx, sheet 2
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: APC: 694C>T; R232*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.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: 694C>T; Arg232Ter
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



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: Arg232Ter; rs397515734
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.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: R232*
PubMed Link: 32234730
Variant Present in the following documents:
  • esmoopen-2020-000675supp003.pdf
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: R232*
PubMed Link: 32012149
Variant Present in the following documents:
  • pgen.1008572.s012.xlsx, sheet 1
View BVdb publication page



Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances
Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS
Publication Date: 2020-01

Variant appearance in text: APC: R232*
PubMed Link: 31998840
Variant Present in the following documents:
  • aay2174_SM.pdf
View BVdb publication page



Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: APC: R232X
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_13915_MOESM4_ESM.xlsx, sheet 2
  • 41467_2019_13915_MOESM5_ESM.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: 694C>T; R232*
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



Detection of KRAS mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers.

Genomics & Informatics
Min, Suji S; Shin, Sun S; Chung, Yeun-Jun YJ
Publication Date: 2019-12

Variant appearance in text: APC: R232X
PubMed Link: 31896242
Variant Present in the following documents:
  • Main text
  • gi-2019-17-4-e42.pdf
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: R232*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3
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: R232X
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.

Scientific Reports
Bray, Steven M SM; Lee, Jeeyun J; Kim, Seung Tae ST; Hur, Joon Young JY; Ebert, Philip J PJ; Calley, John N JN; Wulur, Isabella H IH; Gopalappa, Thejaswini T; Wong, Swee Seong SS; Qian, Hui-Rong HR; Ting, Jason C JC; Liu, Jiangang J; Willard, Melinda D MD; Novosiadly, Ruslan D RD; Park, Young Suk YS; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Aggarwal, Amit A; Kim, Hee Cheol HC; Reinhard, Christoph C
Publication Date: 2019-10-25

Variant appearance in text: APC: R232*
PubMed Link: 31653970
Variant Present in the following documents:
  • 41598_2019_51981_MOESM2_ESM.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: Arg232*
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: 694C>T; Arg232Ter
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: Arg232Ter; rs397515734
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page