Publications:

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Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Translational Lung Cancer Research

Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS

Publication Date: 2023-05-31

Variant appearance in text: TP53: 830G>A; Cys277Tyr

PubMed Link: 37323168

Variant Present in the following documents:

• tlcr-12-05-971-supplementary.pdf

View BVdb publication page

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Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.

Nature Communications

Berko, Esther R ER; Witek, Gabriela M GM; Matkar, Smita S; Petrova, Zaritza O ZO; Wu, Megan A MA; Smith, Courtney M CM; Daniels, Alex A; Kalna, Joshua J; Kennedy, Annie A; Gostuski, Ivan I; Casey, Colleen C; Krytska, Kateryna K; Gerelus, Mark M; Pavlick, Dean D; Ghazarian, Susan S; Park, Julie R JR; Marachelian, Araz A; Maris, John M JM; Goldsmith, Kelly C KC; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP

Publication Date: 2023-05-05

Variant appearance in text: TP53: C277Y

PubMed Link: 37147298

Variant Present in the following documents:

• 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology

Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM

Publication Date: 2023

Variant appearance in text: TP53: C277Y

PubMed Link: 37007070

Variant Present in the following documents:

• Main text
• fonc-13-1133363.pdf

View BVdb publication page

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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics

Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L

Publication Date: 2023-03-16

Variant appearance in text: rs763098116

PubMed Link: 36928603

Variant Present in the following documents:

• 41588_2023_1321_MOESM4_ESM.xlsx, sheet 44

View BVdb publication page

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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: TP53: 830G>A; Cys277Tyr; rs763098116

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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

Cancer Discovery

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

Publication Date: 2023-02-08

Variant appearance in text: TP53: C277Y

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: C277Y

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 7

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: C277Y

PubMed Link: 36470901

Variant Present in the following documents:

• 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17

View BVdb publication page

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A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology

,

Publication Date: 2022-11-24

Variant appearance in text: TP53: 830G>A

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: TP53: 830G>A; C277Y

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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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: 830G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Inhibition of interleukin-1β reduces myelofibrosis and osteosclerosis in mice with JAK2-V617F driven myeloproliferative neoplasm.

Nature Communications

Rai, Shivam S; Grockowiak, Elodie E; Hansen, Nils N; Luque Paz, Damien D; Stoll, Cedric B CB; Hao-Shen, Hui H; Mild-Schneider, Gabriele G; Dirnhofer, Stefan S; Farady, Christopher J CJ; Méndez-Ferrer, Simón S; Skoda, Radek C RC

Publication Date: 2022-09-13

Variant appearance in text: TP53: Cys277Tyr

PubMed Link: 36100613

Variant Present in the following documents:

• 41467_2022_32927_MOESM4_ESM.xlsx, sheet 1

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: TP53: C277Y

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: TP53: C277Y

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

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: C277Y

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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Primary Neuroendocrine Tumor of the Breast: Current Understanding and Future Perspectives.

Frontiers In Oncology

Sun, Hongna H; Dai, Shuang S; Xu, Junnan J; Liu, Linan L; Yu, Jiaxing J; Sun, Tao T

Publication Date: 2022

Variant appearance in text: TP53: C277Y

PubMed Link: 35692784

Variant Present in the following documents:

• Main text
• fonc-12-848485.pdf

View BVdb publication page

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Peripheral blood immune cell dynamics reflect antitumor immune responses and predict clinical response to immunotherapy.

Journal For Immunotherapy Of Cancer

Hwang, Michael M; Canzoniero, Jenna Vanliere JV; Rosner, Samuel S; Zhang, Guangfan G; White, James R JR; Belcaid, Zineb Z; Cherry, Christopher C; Balan, Archana A; Pereira, Gavin G; Curry, Alexandria A; Niknafs, Noushin N; Zhang, Jiajia J; Smith, Kellie N KN; Sivapalan, Lavanya L; Chaft, Jamie E JE; Reuss, Joshua E JE; Marrone, Kristen K; Murray, Joseph C JC; Li, Qing Kay QK; Lam, Vincent V; Levy, Benjamin P BP; Hann, Christine C; Velculescu, Victor E VE; Brahmer, Julie R JR; Forde, Patrick M PM; Seiwert, Tanguy T; Anagnostou, Valsamo V

Publication Date: 2022-06

Variant appearance in text: TP53: C277Y

PubMed Link: 35688557

Variant Present in the following documents:

• jitc-2022-004688supp001.xlsx, sheet 14

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: 830G>A; C277Y

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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Single-cell analysis reveals selection of TP53-mutated clones after MDM2 inhibition.

Blood Advances

Maslah, Nabih N; Verger, Emmanuelle E; Giraudier, Stéphane S; Chea, Mathias M; Hoffman, Ronald R; Mascarenhas, John J; Cassinat, Bruno B; Kiladjian, Jean-Jacques JJ

Publication Date: 2022-05-10

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 35030630

Variant Present in the following documents:

• Main text
• advancesADV2021005867-suppl1.pdf
• advancesADV2021005867.pdf

View BVdb publication page

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Prevalence and variation of CHIP in patients with aggressive lymphomas undergoing CD19-directed CAR T-cell treatment.

Blood Advances

Teipel, Raphael R; Kroschinsky, Frank F; Kramer, Michael M; Kretschmann, Theresa T; Egger-Heidrich, Katharina K; Krüger, Thomas T; Ruhnke, Leo L; Herold, Sylvia S; Stasik, Sebastian S; Sockel, Katja K; Middeke, Jan M JM; Trautmann-Grill, Karolin K; Bornhäuser, Martin M; Thiede, Christian C; von Bonin, Malte M

Publication Date: 2022-03-22

Variant appearance in text: TP53: 830G>A; Cys277Tyr

PubMed Link: 35008107

Variant Present in the following documents:

• advancesADV2021005747-suppl1.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: C277Y

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Immune Checkpoint Inhibitors Plus Single-Agent Chemotherapy for Advanced Non-Small-Cell Lung Cancer After Resistance to EGFR-TKI.

Frontiers In Oncology

Deng, Haiyi H; Lin, Xinqing X; Xie, Xiaohong X; Yang, Yilin Y; Wang, Liqiang L; Wu, Jianhui J; Liu, Ming M; Xie, Zhanhong Z; Qin, Yinyin Y; Zhou, Chengzhi C

Publication Date: 2021

Variant appearance in text: TP53: C277Y

PubMed Link: 34616674

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports

Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K

Publication Date: 2021-07

Variant appearance in text: rs763098116

PubMed Link: 34590037

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology.

Nature Communications

Risbridger, Gail P GP; Clark, Ashlee K AK; Porter, Laura H LH; Toivanen, Roxanne R; Bakshi, Andrew A; Lister, Natalie L NL; Pook, David D; Pezaro, Carmel J CJ; Sandhu, Shahneen S; Keerthikumar, Shivakumar S; Quezada Urban, Rosalia R; Papargiris, Melissa M; Kraska, Jenna J; Madsen, Heather B HB; Wang, Hong H; Richards, Michelle G MG; Niranjan, Birunthi B; O'Dea, Samantha S; Teng, Linda L; Wheelahan, William W; Li, Zhuoer Z; Choo, Nicholas N; Ouyang, John F JF; Thorne, Heather H; Devereux, Lisa L; Hicks, Rodney J RJ; Sengupta, Shomik S; Harewood, Laurence L; Iddawala, Mahesh M; Azad, Arun A AA; Goad, Jeremy J; Grummet, Jeremy J; Kourambas, John J; Kwan, Edmond M EM; Moon, Daniel D; Murphy, Declan G DG; Pedersen, John J; Clouston, David D; Norden, Sam S; Ryan, Andrew A; Furic, Luc L; Goode, David L DL; Frydenberg, Mark M; Lawrence, Mitchell G MG; Taylor, Renea A RA

Publication Date: 2021-08-19

Variant appearance in text: TP53: 830G>A; Cys277Tyr; rs763098116

PubMed Link: 34413304

Variant Present in the following documents:

• 41467_2021_25175_MOESM4_ESM.xlsx, sheet 5

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: 830G>A; Cys277Tyr; rs763098116

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer.

Jco Precision Oncology

Gerratana, Lorenzo L; Davis, Andrew A AA; Zhang, Qiang Q; Basile, Debora D; Rossi, Giovanna G; Strickland, Kimberly K; Franzoni, Alessandra A; Allegri, Lorenzo L; Mu, Zhaomei Z; Zhang, Youbin Y; Flaum, Lisa E LE; Damante, Giuseppe G; Gradishar, William John WJ; Platanias, Leonidas C LC; Behdad, Amir A; Yang, Hushan H; Puglisi, Fabio F; Cristofanilli, Massimo M

Publication Date: 2021-06

Variant appearance in text: TP53: C277Y

PubMed Link: 34136741

Variant Present in the following documents:

• po-5-943.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: TP53: C277Y

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 15

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: C277Y

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Early plasma circulating tumor DNA (ctDNA) changes predict response to first-line pembrolizumab-based therapy in non-small cell lung cancer (NSCLC).

Journal For Immunotherapy Of Cancer

Ricciuti, Biagio B; Jones, Greg G; Severgnini, Mariano M; Alessi, Joao V JV; Recondo, Gonzalo G; Lawrence, Marissa M; Forshew, Tim T; Lydon, Christine C; Nishino, Mizuki M; Cheng, Michael M; Awad, Mark M

Publication Date: 2021-03

Variant appearance in text: TP53: C277Y

PubMed Link: 33771889

Variant Present in the following documents:

• jitc-2020-001504supp002.pdf

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: 830G>A; C277Y

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: C277Y

PubMed Link: 33637765

Variant Present in the following documents:

• 41467_2021_21588_MOESM1_ESM.pdf

View BVdb publication page

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The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications

Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2021-02-12

Variant appearance in text: TP53: C277Y

PubMed Link: 33579957

Variant Present in the following documents:

• 41467_2021_21255_MOESM7_ESM.xlsx, sheet 1
• 41467_2021_21255_MOESM24_ESM.xlsx, sheet 1

View BVdb publication page

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Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research

Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG

Publication Date: 2021-05

Variant appearance in text: TP53: C277Y

PubMed Link: 33428330

Variant Present in the following documents:

• CJP2-7-243-s002.xlsx, sheet 1

View BVdb publication page

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Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research

Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG

Publication Date: 2021-05

Variant appearance in text: TP53: C277Y

PubMed Link: 33428330

Variant Present in the following documents:

• CJP2-7-243-s002.xlsx, sheet 1

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: TP53: C277Y

PubMed Link: 33420073

Variant Present in the following documents:

• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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: 830G>A; C277Y

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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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs763098116

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs763098116

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine

Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ

Publication Date: 2020-10

Variant appearance in text: TP53: C277Y

PubMed Link: 33001984

Variant Present in the following documents:

• pmed.1003363.s013.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: TP53: C277Y

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: TP53: C277Y

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: TP53: C277Y

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: p53: Cys277Tyr

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

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: C277Y

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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Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.

Journal Of Translational Medicine

Heeke, Simon S; Hofman, Véronique V; Ilié, Marius M; Allegra, Maryline M; Lespinet, Virginie V; Bordone, Olivier O; Benzaquen, Jonathan J; Boutros, Jacques J; Poudenx, Michel M; Lalvée, Salomé S; Tanga, Virginie V; Salacroup, Carole C; Bonnetaud, Christelle C; Marquette, Charles-Hugo CH; Hofman, Paul P

Publication Date: 2020-02-17

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 32066459

Variant Present in the following documents:

• 12967_2020_2259_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: TP53: 830G>A

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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: 830G>A; C277Y

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: TP53: 830G>A; Cys277Tyr; rs763098116

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 3
• NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5

View BVdb publication page

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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: TP53: C277Y

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Plasma next generation sequencing and droplet digital PCR-based detection of epidermal growth factor receptor (EGFR) mutations in patients with advanced lung cancer treated with subsequent-line osimertinib.

Thoracic Cancer

Ding, Pei N PN; Becker, Therese T; Bray, Victoria V; Chua, Wei W; Ma, Yafeng Y; Xu, Bo B; Lynch, David D; de Souza, Paul P; Roberts, Tara T

Publication Date: 2019-10

Variant appearance in text: TP53: C277Y

PubMed Link: 31414729

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C277Y

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: TP53: 830G>A; Cys277Tyr

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 830G>A; Cys277Tyr

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TP53: C277Y

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.

Haematologica

Brieghel, Christian C; Kinalis, Savvas S; Yde, Christina W CW; Schmidt, Ane Y AY; Jønson, Lars L; Andersen, Michael A MA; da Cunha-Bang, Caspar C; Pedersen, Lone B LB; Geisler, Christian H CH; Nielsen, Finn C FC; Niemann, Carsten U CU

Publication Date: 2019-04

Variant appearance in text: TP53: 830G>A

PubMed Link: 30514802

Variant Present in the following documents:

• 2018.195818.BRIEGHEL_SUPPL.pdf

View BVdb publication page

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Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Human Mutation

de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI

Publication Date: 2019-01

Variant appearance in text: TP53: C277Y

PubMed Link: 30352134

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: TP53: 830G>A; Cys277Tyr; rs763098116

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

p53-inducible gene 3 promotes cell migration and invasion by activating the FAK/Src pathway in lung adenocarcinoma.

Cancer Science

Gu, Meng-Meng MM; Gao, Dexuan D; Yao, Ping-An PA; Yu, Lan L; Yang, Xiao-Dong XD; Xing, Chun-Gen CG; Zhou, Jundong J; Shang, Zeng-Fu ZF; Li, Ming M

Publication Date: 2018-12

Variant appearance in text: p53: C277Y

PubMed Link: 30281878

Variant Present in the following documents:

• Main text
• CAS-109-3783.pdf

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.

Plos One

Li, Guoli G; Guo, Xinwu X; Chen, Ming M; Tang, Lili L; Jiang, Hui H; Day, Julia X JX; Xie, Yueliang Y; Peng, Limin L; Xu, Xunxun X; Li, Jinliang J; Wang, Shouman S; Xiao, Zhi Z; Dai, Lizhong L; Wang, Jun J

Publication Date: 2018

Variant appearance in text: N/A

PubMed Link: 30212483

Variant Present in the following documents:

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 830G>A; Cys277Tyr

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 6
• bty518_supplementary_data_s1.xlsx, sheet 2

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: TP53: C277Y

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: TP53: 830G>A; C277Y

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Nature Communications

Wong, Terrence N TN; Miller, Christopher A CA; Jotte, Matthew R M MRM; Bagegni, Nusayba N; Baty, Jack D JD; Schmidt, Amy P AP; Cashen, Amanda F AF; Duncavage, Eric J EJ; Helton, Nichole M NM; Fiala, Mark M; Fulton, Robert S RS; Heath, Sharon E SE; Janke, Megan M; Luber, Kierstin K; Westervelt, Peter P; Vij, Ravi R; DiPersio, John F JF; Welch, John S JS; Graubert, Timothy A TA; Walter, Matthew J MJ; Ley, Timothy J TJ; Link, Daniel C DC

Publication Date: 2018-01-31

Variant appearance in text: TP53: C277Y

PubMed Link: 29386642

Variant Present in the following documents:

• 41467_2018_2858_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Somatic CLL mutations occur at multiple distinct hematopoietic maturation stages: documentation and cautionary note regarding cell fraction purity.

Leukemia

Marsilio, S S; Khiabanian, H H; Fabbri, G G; Vergani, S S; Scuoppo, C C; Montserrat, E E; Shpall, E J EJ; Hadigol, M M; Marin, P P; Rai, K R KR; Rabadan, R R; Devereux, S S; Pasqualucci, L L; Chiorazzi, N N

Publication Date: 2018-04

Variant appearance in text: TP53: C277Y

PubMed Link: 29203856

Variant Present in the following documents:

• leu2017343x8.xlsx, sheet 1

View BVdb publication page

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Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.

Neuro-Oncology

Hayes, Josie J; Yu, Yao Y; Jalbert, Llewellyn E LE; Mazor, Tali T; Jones, Lindsey E LE; Wood, Matthew D MD; Walsh, Kyle M KM; Bengtsson, Henrik H; Hong, Chibo C; Oberndorfer, Stefan S; Roetzer, Thomas T; Smirnov, Ivan V IV; Clarke, Jennifer L JL; Aghi, Manish K MK; Chang, Susan M SM; Nelson, Sarah J SJ; Woehrer, Adelheid A; Phillips, Joanna J JJ; Solomon, David A DA; Costello, Joseph F JF

Publication Date: 2018-04-09

Variant appearance in text: TP53: C277Y

PubMed Link: 29077933

Variant Present in the following documents:

• Main text

View BVdb publication page

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p53, p63 and p73 in the wonderland of S. cerevisiae.

Oncotarget

Billant, Olivier O; Blondel, Marc M; Voisset, Cécile C

Publication Date: 2017-08-22

Variant appearance in text: p53: C277Y

PubMed Link: 28915717

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 830G>A; C277Y

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids.

Scientific Reports

Pan, Yang Y; Yan, Cheng C; Hu, Yu Y; Fan, Yu Y; Pan, Qing Q; Wan, Quan Q; Torcivia-Rodriguez, John J; Mazumder, Raja R

Publication Date: 2017-02-08

Variant appearance in text: TP53: C277Y

PubMed Link: 28176830

Variant Present in the following documents:

• srep42169.pdf

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