Publications:

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Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Cancer Medicine

Montes-Rodríguez, Ingrid M IM; Centeno-Girona, Hilmaris H; Rivera-Lynch, Camila C; Rivera, Noridza N; Cruz-Correa, Marcia M

Publication Date: 2023-04-11

Variant appearance in text: APC: R1450*

PubMed Link: 37039257

Variant Present in the following documents:

• Main text
• CAM4-12-11686.pdf

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: APC: R1450X

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: APC: 4348C>T; Arg1450Ter

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

Frontiers In Molecular Biosciences

Mohd Yunos, Ryia Illani RI; Ab Mutalib, Nurul-Syakima NS; Khoo, Jia-Shiun JS; Saidin, Sazuita S; Ishak, Muhiddin M; Syafruddin, Saiful Effendi SE; Tieng, Francis Yew Fu FYF; Md Yusof, Najwa Farhah NF; Abd Razak, Mohd Ridhwan MR; Mahamad Nadzir, Norshahidah N; Abu, Nadiah N; Rose, Isa Md IM; Sagap, Ismail I; Mazlan, Luqman L; Jamal, Rahman R

Publication Date: 2022

Variant appearance in text: APC: R1450X; rs121913332

PubMed Link: 36866106

Variant Present in the following documents:

• Main text
• fmolb-09-997747.pdf

View BVdb publication page

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Codon-specific KRAS mutations predict survival benefit of trifluridine/tipiracil in metastatic colorectal cancer.

Nature Medicine

van de Haar, Joris J; Ma, Xuhui X; Ooft, Salo N SN; van der Helm, Pim W PW; Hoes, Louisa R LR; Mainardi, Sara S; Pinato, David J DJ; Sun, Kristi K; Salvatore, Lisa L; Tortora, Giampaolo G; Zurlo, Ina Valeria IV; Leo, Silvana S; Giampieri, Riccardo R; Berardi, Rossana R; Gelsomino, Fabio F; Merz, Valeria V; Mazzuca, Federica F; Antonuzzo, Lorenzo L; Rosati, Gerardo G; Stavraka, Chara C; Ross, Paul P; Rodriquenz, Maria Grazia MG; Pavarana, Michele M; Messina, Carlo C; Iveson, Timothy T; Zoratto, Federica F; Thomas, Anne A; Fenocchio, Elisabetta E; Ratti, Margherita M; Depetris, Ilaria I; Cergnul, Massimiliano M; Morelli, Cristina C; Libertini, Michela M; Parisi, Alessandro A; De Tursi, Michele M; Zanaletti, Nicoletta N; Garrone, Ornella O; Graham, Janet J; Longarini, Raffaella R; Gobba, Stefania Maria SM; Petrillo, Angelica A; Tamburini, Emiliano E; La Verde, Nicla N; Petrelli, Fausto F; Ricci, Vincenzo V; Wessels, Lodewyk F A LFA; Ghidini, Michele M; Cortellini, Alessio A; Voest, Emile E EE; Valeri, Nicola N

Publication Date: 2023-03-02

Variant appearance in text: APC: Arg1450*

PubMed Link: 36864254

Variant Present in the following documents:

• 41591_2023_2240_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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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: 4348C>T; Arg1450Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Tumor-informed or tumor-agnostic circulating tumor DNA as a biomarker for risk of recurrence in resected colorectal cancer patients.

Frontiers In Oncology

Chan, Hiu Ting HT; Nagayama, Satoshi S; Otaki, Masumi M; Chin, Yoon Ming YM; Fukunaga, Yosuke Y; Ueno, Masashi M; Nakamura, Yusuke Y; Low, Siew-Kee SK

Publication Date: 2022

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 36776372

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10
• DataSheet_1.xlsx, sheet 9

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: APC: 4348C>T; Arg1450Ter; rs121913332

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM8_ESM.xlsx, sheet 1
• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: R1450*; rs121913332

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Frontiers In Oncology

Hallermayr, Ariane A; Neuhann, Teresa M TM; Steinke-Lange, Verena V; Scharf, Florentine F; Laner, Andreas A; Ewald, Roland R; Liesfeld, Ben B; Holinski-Feder, Elke E; Pickl, Julia M A JMA

Publication Date: 2022

Variant appearance in text: APC: 4348C>T; Arg1450*

PubMed Link: 36636551

Variant Present in the following documents:

• Table_1.xlsx, sheet 10
• Table_1.xlsx, sheet 7
• Table_1.xlsx, sheet 5

View BVdb publication page

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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: 4348C>T; R1450*

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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An innovative single-base extension method for synchronous detection of point mutations and MSI status in colorectal cancer.

Cancer Medicine

Liang, Li L; Li, Xin X; Nong, Lin L; Cai, Weijing W; Zhang, Jixin J; Liu, Ping P; Li, Ting T

Publication Date: 2022-12-30

Variant appearance in text: APC: R1450*

PubMed Link: 36583506

Variant Present in the following documents:

View BVdb publication page

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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: R1450*

PubMed Link: 36477656

Variant Present in the following documents:

• 41467_2022_35134_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular characterization of acquired resistance to KRAS G12C-EGFR inhibition in colorectal cancer.

Cancer Discovery

Yaeger, Rona R; Mezzadra, Riccardo R; Sinopoli, Jenna J; Bian, Yu Y; Marasco, Michelangelo M; Kaplun, Esther E; Gao, Yijun Y; Zhao, HuiYong H; Da Cruz Paula, Arnaud A; Zhu, Yingjie Y; Chaves Perez, Almudena A; Chadalavada, Kalyani K; Tse, Edison E; Chowdhry, Sudhir S; Bowker, Sydney S; Chang, Qing Q; Qeriqi, Besnik B; Weigelt, Britta B; Nanjangud, Gouri J GJ; Berger, Michael F MF; Der-Torossian, Hirak H; Anderes, Kenna K; Socci, Nicholas D ND; Shia, Jinru J; Riely, Gregory J GJ; Murciano-Goroff, Yonina R YR; Li, Bob T BT; Christensen, James G JG; Reis-Filho, Jorge S JS; Solit, David B DB; de Stanchina, Elisa E; Lowe, Scott W SW; Rosen, Neal N; Misale, Sandra S

Publication Date: 2022-11-10

Variant appearance in text: APC: R1450*

PubMed Link: 36355783

Variant Present in the following documents:

• 41.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: APC: 4348C>T; Arg1450Ter; rs121913332

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Cancer Medicine

Lai, Xiaojing X; Yu, Ruoying R; Ou, Qiuxiang Q; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Li, Yang Y; Zhang, Ying Y; Ding, Qingqing Q

Publication Date: 2022-11-03

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 36325957

Variant Present in the following documents:

• CAM4-12-6009-s003.xlsx, sheet 1

View BVdb publication page

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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: R1450*

PubMed Link: 36302890

Variant Present in the following documents:

• 41698_2022_317_MOESM1_ESM.pdf

View BVdb publication page

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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: R1450*

PubMed Link: 36289336

Variant Present in the following documents:

• 41586_2022_5311_MOESM9_ESM.xlsx, sheet 4
• 41586_2022_5311_MOESM9_ESM.xlsx, sheet 3
• 41586_2022_5311_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: R1450X

PubMed Link: 36271888

Variant Present in the following documents:

• JEV2-11-e12270-s002.xlsx, sheet 1

View BVdb publication page

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Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology

Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS

Publication Date: 2022-10-06

Variant appearance in text: APC: R1450*

PubMed Link: 36202073

Variant Present in the following documents:

• pat-0090-0166-s01.pdf

View BVdb publication page

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Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine

Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X

Publication Date: 2022-09

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 36103400

Variant Present in the following documents:

• CTM2-12-e1015-s002.xlsx, sheet 1

View BVdb publication page

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RNF43 mutations predict response to anti-BRAF/EGFR combinatory therapies in BRAF^V600E 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: Arg1450*

PubMed Link: 36097219

Variant Present in the following documents:

• 41591_2022_1976_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA.

Journal Of Translational Medicine

Xi, Wenqi W; Zhou, Chenfei C; Xu, Fei F; Sun, Debin D; Wang, Shengzhou S; Chen, Yawei Y; Ji, Jun J; Ma, Tao T; Wu, Junwei J; Shangguan, Chengfang C; Zhu, Zhenggang Z; Zhang, Jun J

Publication Date: 2022-08-12

Variant appearance in text: APC: 4348C>T; R1450*; rs121913332

PubMed Link: 35962408

Variant Present in the following documents:

• 12967_2022_3567_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Comparing single-target and multitarget approaches for postoperative circulating tumour DNA detection in stage II-III colorectal cancer patients.

Molecular Oncology

Henriksen, Tenna Vesterman TV; Reinert, Thomas T; Rasmussen, Mads Heilskov MH; Demuth, Christina C; Løve, Uffe Schou US; Madsen, Anders Husted AH; Gotschalck, Kåre Andersson KA; Iversen, Lene Hjerrild LH; Andersen, Claus Lindbjerg CL

Publication Date: 2022-10

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 35895438

Variant Present in the following documents:

• MOL2-16-3654-s002.xlsx, sheet 1

View BVdb publication page

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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: R1450*

PubMed Link: 35872559

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of colorectal cancer patients

Biomedica : Revista Del Instituto Nacional De Salud

Afanador, Carlos Humberto CH; Palacio, Katherine Andrea KA; Isaza, Luis Fernando LF; Ahumada, Enoc E; Ocampo, Carlos Mauricio CM; Muñetón, Carlos Mario CM

Publication Date: 2022-05-01

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 35866738

Variant Present in the following documents:

• 2590-7379-bio-42-s1-5957.pdf

View BVdb publication page

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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: 4348C>T; Arg1450*

PubMed Link: 35805013

Variant Present in the following documents:

• cancers-14-03241.pdf

View BVdb publication page

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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics

Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2022-06-28

Variant appearance in text: APC: Arg1450Ter; rs121913332

PubMed Link: 35761395

Variant Present in the following documents:

• 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1
• 12920_2022_1294_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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

Nature Communications

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

Publication Date: 2022-06-15

Variant appearance in text: APC: R1450*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: 4348C>T; R1450*

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Nature Communications

Lee, Bernard C H BCH; Robinson, Philip S PS; Coorens, Tim H H THH; Yan, Helen H N HHN; Olafsson, Sigurgeir S; Lee-Six, Henry H; Sanders, Mathijs A MA; Siu, Hoi Cheong HC; Hewinson, James J; Yue, Sarah S K SSK; Tsui, Wai Yin WY; Chan, Annie S Y ASY; Chan, Anthony K W AKW; Ho, Siu Lun SL; Campbell, Peter J PJ; Martincorena, Inigo I; Buczacki, Simon J A SJA; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Stratton, Michael R MR

Publication Date: 2022-05-17

Variant appearance in text: APC: R1450*

PubMed Link: 35581206

Variant Present in the following documents:

• 41467_2022_29920_MOESM3_ESM.xlsx, sheet 7

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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: R1450X

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Analytical and clinical validation of an amplicon-based next generation sequencing assay for ultrasensitive detection of circulating tumor DNA.

Plos One

Poh, Jonathan J; Ngeow, Kao Chin KC; Pek, Michelle M; Tan, Kian-Hin KH; Lim, Jing Shan JS; Chen, Hao H; Ong, Choon Kiat CK; Lim, Jing Quan JQ; Lim, Soon Thye ST; Lim, Chwee Ming CM; Goh, Boon Cher BC; Choudhury, Yukti Y

Publication Date: 2022

Variant appearance in text: APC: R1450*

PubMed Link: 35486650

Variant Present in the following documents:

• Main text

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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: R1450*

PubMed Link: 35460607

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 2

View BVdb publication page

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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: R1450*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

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5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection.

Bmc Research Notes

Lu, Michael J MJ; Lu, Yabin Y

Publication Date: 2022-04-21

Variant appearance in text: APC: 4348C>T

PubMed Link: 35449110

Variant Present in the following documents:

• 13104_2022_Article_6028.pdf

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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications

Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY

Publication Date: 2022-04-11

Variant appearance in text: APC: 4348C>T

PubMed Link: 35410464

Variant Present in the following documents:

• 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8

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A molecular approach integrating genomic and DNA methylation profiling for tissue of origin identification in lung-specific cancer of unknown primary.

Journal Of Translational Medicine

Chen, Kaiyan K; Zhang, Fanrong F; Yu, Xiaoqing X; Huang, Zhiyu Z; Gong, Lei L; Xu, Yanjun Y; Li, Hui H; Yu, Sizhe S; Fan, Yun Y

Publication Date: 2022-04-05

Variant appearance in text: APC: R1450*

PubMed Link: 35382836

Variant Present in the following documents:

• 12967_2022_Article_3362.pdf

View BVdb publication page

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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: R1450*

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

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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: 4348C>T; Arg1450Ter; rs121913332

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: 4348C>T; R1450*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology

Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ

Publication Date: 2022-06

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 35143042

Variant Present in the following documents:

• PATH-257-239-s001.xlsx, sheet 2

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Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Journal Of Gynecologic Oncology

Hong, Jin Hwa JH; Cho, Hyun Woong HW; Ouh, Yung-Taek YT; Lee, Jae Kwan JK; Chun, Yikyeong Y; Gim, Jeong-An JA

Publication Date: 2022-05

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 35128859

Variant Present in the following documents:

• jgo-33-e29-s002.xls, sheet 1

View BVdb publication page

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Radiation therapy enhances immunotherapy response in microsatellite stable colorectal and pancreatic adenocarcinoma in a phase II trial.

Nature Cancer

Parikh, Aparna R AR; Szabolcs, Annamaria A; Allen, Jill N JN; Clark, Jeffrey W JW; Wo, Jennifer Y JY; Raabe, Michael M; Thel, Hannah H; Hoyos, David D; Mehta, Arnav A; Arshad, Sanya S; Lieb, David J DJ; Drapek, Lorraine C LC; Blaszkowsky, Lawrence S LS; Giantonio, Bruce J BJ; Weekes, Colin D CD; Zhu, Andrew X AX; Goyal, Lipika L; Nipp, Ryan D RD; Dubois, Jon S JS; Van Seventer, Emily E EE; Foreman, Bronwen E BE; Matlack, Lauren E LE; Ly, Leilana L; Meurer, Jessica A JA; Hacohen, Nir N; Ryan, David P DP; Yeap, Beow Y BY; Corcoran, Ryan B RB; Greenbaum, Benjamin D BD; Ting, David T DT; Hong, Theodore S TS

Publication Date: 2021-11

Variant appearance in text: APC: R1450*

PubMed Link: 35122060

Variant Present in the following documents:

• NIHMS1740920-supplement-Supplementary_Tables.pdf

View BVdb publication page

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Mutational landscape of circulating tumor DNA identifies distinct molecular features associated with therapeutic response in patients with metastatic colorectal cancer.

Therapeutic Advances In Medical Oncology

Shi, Min M; Yuan, Hong H; Ji, Jun J; Zhang, Shouwei S; Li, Qingyuan Q; Chen, Yawei Y; Gong, Xiaoli X; Zhu, Zhenggang Z; Zhang, Jun J

Publication Date: 2022

Variant appearance in text: rs121913332

PubMed Link: 35096147

Variant Present in the following documents:

• sj-xls-4-tam-10.1177_17588359211070643.xls, sheet 1

View BVdb publication page

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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: R1450*

PubMed Link: 35071006

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: APC: 4348C>T; Arg1450*

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: APC: 4348C>T; Arg1450*

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Analysis of Mutations and Dysregulated Pathways Unravels Carcinogenic Effect and Clinical Actionability of Mutational Processes.

Frontiers In Cell And Developmental Biology

Jiang, Zedong Z; Liao, Gaoming G; Yang, Yiran Y; Lan, Yujia Y; Xu, Liwen L; Yan, Min M; Zhou, Yao Y; Zhu, Jiali J; Liu, Wei W; Bai, Jing J; Xiao, Yun Y; Li, Xia X

Publication Date: 2021

Variant appearance in text: APC: R1450*

PubMed Link: 34901014

Variant Present in the following documents:

• Main text
• fcell-09-768981.pdf

View BVdb publication page

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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: R1450*

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: 4348C>T; Arg1450*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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Diverse 'just-right' levels of chromosomal instability and their clinical implications in neoadjuvant treated gastric cancer.

British Journal Of Cancer

Kohlruss, Meike M; Krenauer, Marie M; Grosser, Bianca B; Pfarr, Nicole N; Jesinghaus, Moritz M; Slotta-Huspenina, Julia J; Novotny, Alexander A; Hapfelmeier, Alexander A; Schmidt, Thomas T; Steiger, Katja K; Gaida, Matthias M MM; Reiche, Magdalena M; Bauer, Lukas L; Ott, Katja K; Weichert, Wilko W; Keller, Gisela G

Publication Date: 2021-12

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 34671125

Variant Present in the following documents:

• 41416_2021_1587_MOESM1_ESM.pdf

View BVdb publication page

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Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.

Journal Of Ovarian Research

Watanabe, Takafumi T; Nanamiya, Hideaki H; Endo, Yuta Y; Kojima, Manabu M; Nomura, Shinji S; Furukawa, Shigenori S; Soeda, Shu S; Tamura, Hirosumi H; Ryufuku, Masae M; Tanaka, Daisuke D; Isogai, Takao T; Imai, Jun-Ichi JI; Watanabe, Shinya S; Fujimori, Keiya K

Publication Date: 2021-10-06

Variant appearance in text: APC: 4348C>T; Arg1450Ter; rs121913332

PubMed Link: 34615547

Variant Present in the following documents:

• 13048_2021_876_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening.

Plos One

Sun, Qing Q; Pastor, Larry L; Du, Jinwei J; Powell, Michael J MJ; Zhang, Aiguo A; Bodmer, Walter W; Wu, Jianzhong J; Zheng, Shu S; Sha, Michael Y MY

Publication Date: 2021

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 34610014

Variant Present in the following documents:

• Main text
• pone.0244332.pdf

View BVdb publication page

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: APC: R1450*

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: APC: R1450*

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Building Personalized Cancer Therapeutics through Multi-Omics Assays and Bacteriophage-Eukaryotic Cell Interactions.

International Journal Of Molecular Sciences

Wang, Qing Q

Publication Date: 2021-09-08

Variant appearance in text: APC: R1450*

PubMed Link: 34575870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.

Genome Medicine

Tang, Jie J; Tu, Kailing K; Lu, Keying K; Zhang, Jiaxun J; Luo, Kai K; Jin, Haoxuan H; Wang, Lei L; Yang, Lie L; Xiao, Weiran W; Zhang, Qilin Q; Liu, Xiaoling X; Ge, Xin Yi XY; Li, Guibo G; Zhou, Zongguang Z; Xie, Dan D

Publication Date: 2021-09-10

Variant appearance in text: APC: R1450X

PubMed Link: 34507604

Variant Present in the following documents:

• 13073_2021_962_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: 4348C>T; R1450X

PubMed Link: 34440345

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 4348C>T; R1450*

PubMed Link: 34409732

Variant Present in the following documents:

• EMMM-13-e14123-s009.xls, sheet 1

View BVdb publication page

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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: 4348C>T; Arg1450*; rs121913332

PubMed Link: 34381078

Variant Present in the following documents:

• Main text
• 41598_2021_95345_MOESM6_ESM.xlsx, sheet 1
• 41598_2021_95345_MOESM5_ESM.xlsx, sheet 1
• 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluating CRISPR-based prime editing for cancer modeling and CFTR repair in organoids.

Life Science Alliance

Geurts, Maarten H MH; de Poel, Eyleen E; Pleguezuelos-Manzano, Cayetano C; Oka, Rurika R; Carrillo, Léo L; Andersson-Rolf, Amanda A; Boretto, Matteo M; Brunsveld, Jesse E JE; van Boxtel, Ruben R; Beekman, Jeffrey M JM; Clevers, Hans H

Publication Date: 2021-10

Variant appearance in text: APC: 4348C>T; R1450*

PubMed Link: 34373320

Variant Present in the following documents:

• Main text
• LSA-2020-00940.pdf

View BVdb publication page

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