Publications:

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: TP53: M246I

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

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Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology

Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022-12-10

Variant appearance in text: TP53: M246I

PubMed Link: 36495126

Variant Present in the following documents:

• MOL2-17-598-s002.xlsx, sheet 1

View BVdb publication page

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Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications

Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES

Publication Date: 2022-12-05

Variant appearance in text: TP53: M246I

PubMed Link: 36470901

Variant Present in the following documents:

• 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: M246I

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology

Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA

Publication Date: 2022-11

Variant appearance in text: TP53: 738G>C

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.xlsx, sheet 1

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 738G>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications

Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B

Publication Date: 2022-09-07

Variant appearance in text: TP53: M246I

PubMed Link: 36071046

Variant Present in the following documents:

• 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22

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Suppression of Ribose-5-Phosphate Isomerase a Induces ROS to Activate Autophagy, Apoptosis, and Cellular Senescence in Lung Cancer.

International Journal Of Molecular Sciences

Nieh, Yu-Chin YC; Chou, Yu-Ting YT; Chou, Yu-Ting YT; Wang, Chao-Yung CY; Lin, Shi-Xian SX; Ciou, Shih-Ci SC; Yuh, Chiou-Hwa CH; Wang, Horng-Dar HD

Publication Date: 2022-07-17

Variant appearance in text: p53: M246I

PubMed Link: 35887232

Variant Present in the following documents:

• Main text
• ijms-23-07883.pdf

View BVdb publication page

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Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications

Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M

Publication Date: 2022-07-23

Variant appearance in text: N/A

PubMed Link: 35871175

Variant Present in the following documents:

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: N/A

PubMed Link: 35835912

Variant Present in the following documents:

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: TP53: M246I

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Npj Breast Cancer

Li, Zheqi Z; Spoelstra, Nicole S NS; Sikora, Matthew J MJ; Sams, Sharon B SB; Elias, Anthony A; Richer, Jennifer K JK; Lee, Adrian V AV; Oesterreich, Steffi S

Publication Date: 2022-05-10

Variant appearance in text: TP53: M246I

PubMed Link: 35538119

Variant Present in the following documents:

• 41523_2022_426_MOESM1_ESM.pdf

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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: TP53: M246I

PubMed Link: 35486650

Variant Present in the following documents:

• Main text
• pone.0267389.pdf

View BVdb publication page

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Establishment and characterization of a novel highly malignant lung cancer cell line ZX2021H derived from a metastatic lymph node lesion.

Thoracic Cancer

Zu, Lingling L; Li, Xuebing X; He, Jinling J; Zhou, Ning N; Meng, Fanrong F; Li, Xiaozhou X; Xu, Song S; Zhang, Lei L

Publication Date: 2022-04

Variant appearance in text: TP53: M246I

PubMed Link: 35297208

Variant Present in the following documents:

• Main text
• TCA-13-1199.pdf

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: TP53: 738G>C; M246I

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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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: TP53: M246I

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

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ATR inhibition reverses the resistance of homologous recombination deficient MGMTlow/MMRproficient cancer cells to temozolomide.

Oncotarget

El Touny, Lara H LH; Hose, Curtis C; Connelly, John J; Harris, Erik E; Monks, Anne A; Dull, Angie B AB; Wilsker, Deborah F DF; Hollingshead, Melinda G MG; Gottholm-Ahalt, Michelle M; Alcoser, Sergio Y SY; Mullendore, Michael E ME; Parchment, Ralph E RE; Doroshow, James H JH; Teicher, Beverly A BA; Rapisarda, Annamaria A

Publication Date: 2021-10-12

Variant appearance in text: p53: M246I

PubMed Link: 34676045

Variant Present in the following documents:

• oncotarget-12-2114-s001.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: M246I

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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9-O-Terpenyl-Substituted Berberrubine Derivatives Suppress Tumor Migration and Increase Anti-Human Non-Small-Cell Lung Cancer Activity.

International Journal Of Molecular Sciences

Chang, Jia-Ming JM; Wu, Jin-Yi JY; Chen, Shu-Hsin SH; Chao, Wen-Ying WY; Chuang, Hsiang-Hao HH; Kam, Kam-Hong KH; Zhao, Pei-Wen PW; Li, Yi-Zhen YZ; Yen, Yu-Pei YP; Lee, Ying-Ray YR

Publication Date: 2021-09-13

Variant appearance in text: p53: M246I

PubMed Link: 34576028

Variant Present in the following documents:

• Main text
• ijms-22-09864.pdf

View BVdb publication page

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Structural and Drug Targeting Insights on Mutant p53.

Cancers

Gomes, Ana Sara AS; Ramos, Helena H; Inga, Alberto A; Sousa, Emília E; Saraiva, Lucília L

Publication Date: 2021-07-03

Variant appearance in text: p53: M246I

PubMed Link: 34283062

Variant Present in the following documents:

• Main text
• cancers-13-03344.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Targeted Next-Generation Sequencing Combined With Circulating-Free DNA Deciphers Spatial Heterogeneity of Resected Multifocal Hepatocellular Carcinoma.

Frontiers In Immunology

Lin, Jianzhen J; Zhao, Songhui S; Wang, Dongxu D; Song, Yang Y; Che, Yue Y; Yang, Xu X; Mao, Jinzhu J; Xie, Fucun F; Long, Junyu J; Bai, Yi Y; Yang, Xiaobo X; Zhang, Lei L; Bian, Jin J; Lu, Xin X; Sang, Xinting X; Pan, Jie J; Wang, Kai K; Zhao, Haitao H

Publication Date: 2021

Variant appearance in text: TP53: 738G>C

PubMed Link: 34211467

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment

Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA

Publication Date: 2021-07

Variant appearance in text: TP53: M246I

PubMed Link: 34097174

Variant Present in the following documents:

• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A

Publication Date: 2021

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 33996580

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Nature Communications

Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC

Publication Date: 2021-02-26

Variant appearance in text: TP53: M246I

PubMed Link: 33637765

Variant Present in the following documents:

• 41467_2021_21588_MOESM1_ESM.pdf

View BVdb publication page

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Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications

Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420073

Variant Present in the following documents:

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Molecular determinants of response to PI3K/akt/mTOR and KRAS pathways inhibitors in NSCLC cell lines.

American Journal Of Cancer Research

Iezzi, Alice A; Caiola, Elisa E; Colombo, Marika M; Marabese, Mirko M; Broggini, Massimo M

Publication Date: 2020

Variant appearance in text: p53: M246I

PubMed Link: 33415013

Variant Present in the following documents:

• Main text

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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: TP53: 738G>C; M246I

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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DNA Methylation Haplotype Block Markers Efficiently Discriminate Follicular Thyroid Carcinoma from Follicular Adenoma.

The Journal Of Clinical Endocrinology And Metabolism

Zhang, Hui H; Zhang, Zhenzhen Z; Liu, Xiaoding X; Duan, Huanli H; Xiang, Tianmin T; He, Qiye Q; Su, Zhixi Z; Wu, Huanwen H; Liang, Zhiyong Z

Publication Date: 2021-03-25

Variant appearance in text: TP53: Met246Ile

PubMed Link: 33394038

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 33314633

Variant Present in the following documents:

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Identification of RUNX1T1 as a potential epigenetic modifier in small-cell lung cancer.

Molecular Oncology

He, Tian T; Wildey, Gary G; McColl, Karen K; Savadelis, Alyssa A; Spainhower, Kyle K; McColl, Cassidy C; Kresak, Adam A; Tan, Aik Choon AC; Yang, Michael M; Abbas, Ata A; Dowlati, Afshin A

Publication Date: 2021-01

Variant appearance in text: TP53: M246I

PubMed Link: 33084222

Variant Present in the following documents:

• Main text
• MOL2-15-195.pdf

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Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research

Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG

Publication Date: 2020-06

Variant appearance in text: TP53: M246I

PubMed Link: 32661091

Variant Present in the following documents:

• supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1

View BVdb publication page

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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: TP53: M246I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: TP53: M246I

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TP53: M246I

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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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: TP53: 738G>C; M246I

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: N/A

PubMed Link: 31854063

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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: TP53: 738G>C; M246I

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

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Genomic profile of urine has high diagnostic sensitivity compared to cytology in non-invasive urothelial bladder cancer.

Cancer Science

Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Daimon, Hironori H; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2019-10

Variant appearance in text: TP53: M246I

PubMed Link: 31368627

Variant Present in the following documents:

• CAS-110-3235.pdf

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Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications

Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J

Publication Date: 2019-06-17

Variant appearance in text: TP53: M246I

PubMed Link: 31209238

Variant Present in the following documents:

• 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: M246I

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ

Publication Date: 2019-10

Variant appearance in text: TP53: M246I

PubMed Link: 31028363

Variant Present in the following documents:

• NIHMS1525315-supplement-2.xlsx, sheet 1

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Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Scientific Reports

Kaur, Pushpinder P; Porras, Tania B TB; Ring, Alexander A; Carpten, John D JD; Lang, Julie E JE

Publication Date: 2019-02-06

Variant appearance in text: TP53: M246I

PubMed Link: 30728399

Variant Present in the following documents:

• 41598_2018_37574_MOESM1_ESM.pdf

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Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Oncogene

Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN

Publication Date: 2019-03

Variant appearance in text: TP53: M246I

PubMed Link: 30348992

Variant Present in the following documents:

• 41388_2018_536_MOESM1_ESM.pdf

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BET inhibition is an effective approach against KRAS-driven PDAC and NSCLC.

Oncotarget

Jauset, Toni T; Massó-Vallés, Daniel D; Martínez-Martín, Sandra S; Beaulieu, Marie-Eve ME; Foradada, Laia L; Fiorentino, Francesco Paolo FP; Yokota, Jun J; Haendler, Bernard B; Siegel, Stephan S; Whitfield, Jonathan R JR; Soucek, Laura L

Publication Date: 2018-04-10

Variant appearance in text: TP53: M246I

PubMed Link: 29721157

Variant Present in the following documents:

• oncotarget-09-18734-s001.pdf

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MTH1 deficiency selectively increases non-cytotoxic oxidative DNA damage in lung cancer cells: more bad news than good?

Bmc Cancer

Abbas, Hussein H K HHK; Alhamoudi, Kheloud M H KMH; Evans, Mark D MD; Jones, George D D GDD; Foster, Steven S SS

Publication Date: 2018-04-16

Variant appearance in text: p53: 738G>C

PubMed Link: 29661172

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4332.pdf

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 29267365

Variant Present in the following documents:

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NetSig: network-based discovery from cancer genomes.

Nature Methods

Horn, Heiko H; Lawrence, Michael S MS; Chouinard, Candace R CR; Shrestha, Yashaswi Y; Hu, Jessica Xin JX; Worstell, Elizabeth E; Shea, Emily E; Ilic, Nina N; Kim, Eejung E; Kamburov, Atanas A; Kashani, Alireza A; Hahn, William C WC; Campbell, Joshua D JD; Boehm, Jesse S JS; Getz, Gad G; Lage, Kasper K

Publication Date: 2018-01

Variant appearance in text: N/A

PubMed Link: 29200198

Variant Present in the following documents:

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

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Alternative mechanisms of miR-34a regulation in cancer.

Cell Death & Disease

Slabáková, Eva E; Culig, Zoran Z; Remšík, Ján J; Souček, Karel K

Publication Date: 2017-10-12

Variant appearance in text: p53: M246I

PubMed Link: 29022903

Variant Present in the following documents:

• Main text

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Mutational status of TP53 defines the efficacy of Wee1 inhibitor AZD1775 in KRAS-mutant non-small cell lung cancer.

Oncotarget

Ku, Bo Mi BM; Bae, Yeon-Hee YH; Koh, Jiae J; Sun, Jong-Mu JM; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Park, Keunchil K; Ahn, Myung-Ju MJ

Publication Date: 2017-09-15

Variant appearance in text: TP53: M246I

PubMed Link: 28978051

Variant Present in the following documents:

• Main text

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: N/A

PubMed Link: 28810143

Variant Present in the following documents:

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 738G>C; M246I

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
• 41467_2017_289_MOESM3_ESM.xlsx, sheet 1

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Molecular characterization of breast cancer cell lines through multiple omic approaches.

Breast Cancer Research : Bcr

Smith, Shari E SE; Mellor, Paul P; Ward, Alison K AK; Kendall, Stephanie S; McDonald, Megan M; Vizeacoumar, Frederick S FS; Vizeacoumar, Franco J FJ; Napper, Scott S; Anderson, Deborah H DH

Publication Date: 2017-06-05

Variant appearance in text: N/A

PubMed Link: 28583138

Variant Present in the following documents:

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Single-Center Experience with a Targeted Next Generation Sequencing Assay for Assessment of Relevant Somatic Alterations in Solid Tumors.

Neoplasia (New York, N.Y.)

Paasinen-Sohns, Aino A; Koelzer, Viktor H VH; Frank, Angela A; Schafroth, Julian J; Gisler, Aline A; Sachs, Melanie M; Graber, Anne A; Rothschild, Sacha I SI; Wicki, Andreas A; Cathomas, Gieri G; Mertz, Kirsten D KD

Publication Date: 2017-03

Variant appearance in text: TP53: M246I

PubMed Link: 28161563

Variant Present in the following documents:

• Main text

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2-Deoxyglucose Suppresses ERK Phosphorylation in LKB1 and Ras Wild-Type Non-Small Cell Lung Cancer Cells.

Plos One

Sun, Linlin L; Liu, Xiuju X; Fu, Haian H; Zhou, Wei W; Zhong, Diansheng D

Publication Date: 2016

Variant appearance in text: TP53: M246I

PubMed Link: 28033353

Variant Present in the following documents:

• Main text

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PERK Is a Haploinsufficient Tumor Suppressor: Gene Dose Determines Tumor-Suppressive Versus Tumor Promoting Properties of PERK in Melanoma.

Plos Genetics

Pytel, Dariusz D; Gao, Yan Y; Mackiewicz, Katarzyna K; Katlinskaya, Yuliya V YV; Staschke, Kirk A KA; Paredes, Maria C G MC; Yoshida, Akihiro A; Qie, Shuo S; Zhang, Gao G; Chajewski, Olga S OS; Wu, Lawrence L; Majsterek, Ireneusz I; Herlyn, Meenhard M; Fuchs, Serge Y SY; Diehl, J Alan JA

Publication Date: 2016-12

Variant appearance in text: p53: M246I

PubMed Link: 27977682

Variant Present in the following documents:

• pgen.1006518.s010.pdf

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A Platform for Designing Genome-Based Personalized Immunotherapy or Vaccine against Cancer.

Plos One

Gupta, Sudheer S; Chaudhary, Kumardeep K; Dhanda, Sandeep Kumar SK; Kumar, Rahul R; Kumar, Shailesh S; Sehgal, Manika M; Nagpal, Gandharva G; Raghava, Gajendra P S GP

Publication Date: 2016

Variant appearance in text: TP53: M246I

PubMed Link: 27832200

Variant Present in the following documents:

• pone.0166372.s004.xlsx, sheet 1

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Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer.

Oncotarget

Weber, Anika Maria AM; Drobnitzky, Neele N; Devery, Aoife Maire AM; Bokobza, Sivan Mili SM; Adams, Richard A RA; Maughan, Timothy S TS; Ryan, Anderson Joseph AJ

Publication Date: 2016-09-20

Variant appearance in text: TP53: M246I

PubMed Link: 27602502

Variant Present in the following documents:

• Main text
• oncotarget-07-60807.pdf

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