Publications:

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Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Human Genomics

Zakaria, Nermine H NH; Hashad, Doaa D; Saied, Marwa H MH; Hegazy, Neamat N; Elkayal, Alyaa A; Tayae, Eman E

Publication Date: 2023-05-18

Variant appearance in text: TP53: Cys135Gly

PubMed Link: 37202799

Variant Present in the following documents:

• Main text
• 40246_2023_Article_493.pdf

View BVdb publication page

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Combined inhibition of BCL-2 and MCL-1 overcomes BAX deficiency-mediated resistance of TP53-mutant acute myeloid leukemia to individual BH3 mimetics.

Blood Cancer Journal

Carter, Bing Z BZ; Mak, Po Yee PY; Tao, Wenjing W; Ayoub, Edward E; Ostermann, Lauren B LB; Huang, Xuelin X; Loghavi, Sanam S; Boettcher, Steffen S; Nishida, Yuki Y; Ruvolo, Vivian V; Hughes, Paul E PE; Morrow, Phuong K PK; Haferlach, Torsten T; Kornblau, Steven S; Muftuoglu, Muharrem M; Andreeff, Michael M

Publication Date: 2023-04-24

Variant appearance in text: TP53: C135G

PubMed Link: 37088806

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: TP53: C135G

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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: TP53: 403T>G; Cys135Gly

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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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: C135G

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7
• Table3.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: 403T>G; C135G

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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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: TP53: 403T>G; C135G

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

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: C135G

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: C135G

PubMed Link: 36071046

Variant Present in the following documents:

• 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22

View BVdb publication page

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Dualistic classification of high grade serous ovarian carcinoma has its root in spatial heterogeneity.

Journal Of Advanced Research

Sun, Tingting T; Zhang, Zuwei Z; Tian, Liming L; Zheng, Yu Y; Wu, Linxiang L; Guo, Yunyun Y; Li, Xiaohui X; Li, Yuanyuan Y; Shen, Hongwei H; Lai, Yingrong Y; Liu, Junfeng J; Cui, Huanhuan H; He, Shasha S; Ren, Yufeng Y; Yang, Guofen G

Publication Date: 2022-08-28

Variant appearance in text: rs1057519975

PubMed Link: 36038111

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 2

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: C135G

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine

Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H

Publication Date: 2022-04

Variant appearance in text: TP53: 403T>G; C135G

PubMed Link: 35384329

Variant Present in the following documents:

• CTM2-12-e799-s006.xlsx, sheet 2

View BVdb publication page

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Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Zhou, Qing Q; Gampenrieder, Simon P SP; Frantal, Sophie S; Rinnerthaler, Gabriel G; Singer, Christian F CF; Egle, Daniel D; Pfeiler, Georg G; Bartsch, Rupert R; Wette, Viktor V; Pichler, Angelika A; Petru, Edgar E; Dubsky, Peter C PC; Bago-Horvath, Zsuzsanna Z; Fesl, Christian C; Rudas, Margaretha M; Ståhlberg, Anders A; Graf, Ricarda R; Weber, Sabrina S; Dandachi, Nadia N; Filipits, Martin M; Gnant, Michael M; Balic, Marija M; Heitzer, Ellen E

Publication Date: 2022-02-15

Variant appearance in text: TP53: 403T>G; Cys135Gly

PubMed Link: 34862246

Variant Present in the following documents:

• ccr-21-3231_table_s2_supps2.xlsx, sheet 1

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: C135G

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: 403T>G; C135G

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

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: 403T>G; C135G

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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: 403T>G; C135G

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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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human Mutation

Fortuno, Cristina C; Lee, Kristy K; Olivier, Magali M; Pesaran, Tina T; Mai, Phuong L PL; de Andrade, Kelvin C KC; Attardi, Laura D LD; Crowley, Stephanie S; Evans, D Gareth DG; Feng, Bing-Jian BJ; Foreman, Ann K M AKM; Frone, Megan N MN; Huether, Robert R; James, Paul A PA; McGoldrick, Kelly K; Mester, Jessica J; Seifert, Bryce A BA; Slavin, Thomas P TP; Witkowski, Leora L; Zhang, Liying L; Plon, Sharon E SE; Spurdle, Amanda B AB; Savage, Sharon A SA; ,

Publication Date: 2021-03

Variant appearance in text: TP53: 403T>G

PubMed Link: 33300245

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications

Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R

Publication Date: 2020-11-27

Variant appearance in text: TP53: 403T>G; C135G

PubMed Link: 33247113

Variant Present in the following documents:

• 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs1057519975

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.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: C135G

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: TP53: 403T>G

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.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: C135G

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: C135G

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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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: TP53: C135G

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
• 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: TP53: Cys135Gly

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

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: C135G

PubMed Link: 31034466

Variant Present in the following documents:

• Main text
• pcbi.1006981.pdf
• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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

Nature Medicine

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

Publication Date: 2019-05

Variant appearance in text: TP53: C135G

PubMed Link: 31011206

Variant Present in the following documents:

• NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2

View BVdb publication page

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Influence of p53 Isoform Expression on Survival in High-Grade Serous Ovarian Cancers.

Scientific Reports

Bischof, Katharina K; Knappskog, Stian S; Hjelle, Sigrun M SM; Stefansson, Ingunn I; Woie, Kathrine K; Salvesen, Helga B HB; Gjertsen, Bjorn T BT; Bjorge, Line L

Publication Date: 2019-03-27

Variant appearance in text: TP53: C135G

PubMed Link: 30918304

Variant Present in the following documents:

• Main text

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: 403T>G; Cys135Gly

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas.

Leukemia

Kataoka, Keisuke K; Miyoshi, Hiroaki H; Sakata, Seiji S; Dobashi, Akito A; Couronné, Lucile L; Kogure, Yasunori Y; Sato, Yasuharu Y; Nishida, Kenji K; Gion, Yuka Y; Shiraishi, Yuichi Y; Tanaka, Hiroko H; Chiba, Kenichi K; Watatani, Yosaku Y; Kakiuchi, Nobuyuki N; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Makishima, Hideki H; Sanada, Masashi M; Onozawa, Masahiro M; Teshima, Takanori T; Yoshiki, Yumiko Y; Ishida, Tadao T; Suzuki, Kenshi K; Shimada, Kazuyuki K; Tomita, Akihiro A; Kato, Motohiro M; Ota, Yasunori Y; Izutsu, Koji K; Demachi-Okamura, Ayako A; Akatsuka, Yoshiki Y; Miyano, Satoru S; Yoshino, Tadashi T; Gaulard, Philippe P; Hermine, Olivier O; Takeuchi, Kengo K; Ohshima, Koichi K; Ogawa, Seishi S

Publication Date: 2019-07

Variant appearance in text: TP53: C135G

PubMed Link: 30683910

Variant Present in the following documents:

• 41375_2019_380_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: TP53: C135G

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Concomitant driver mutations in advanced EGFR-mutated non-small-cell lung cancer and their impact on erlotinib treatment.

Oncotarget

Jakobsen, Jan Nyrop JN; Santoni-Rugiu, Eric E; Grauslund, Morten M; Melchior, Linea L; Sørensen, Jens Benn JB

Publication Date: 2018-05-25

Variant appearance in text: TP53: 403T>G

PubMed Link: 29899852

Variant Present in the following documents:

• Main text
• oncotarget-09-26195.pdf

View BVdb publication page

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Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene.

International Journal Of Molecular Sciences

Indio, Valentina V; Astolfi, Annalisa A; Tarantino, Giuseppe G; Urbini, Milena M; Patterson, Janice J; Nannini, Margherita M; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; do Valle, Italo F IF; Castellani, Gastone G; Remondini, Daniel D; Fiorentino, Michelangelo M; von Mehren, Margaret M; Brandi, Giovanni G; Biasco, Guido G; Heinrich, Michael C MC; Pantaleo, Maria Aabbondanza MA

Publication Date: 2018-03-04

Variant appearance in text: TP53: C135G

PubMed Link: 29510530

Variant Present in the following documents:

• Main text
• ijms-19-00732-s001.xlsx, sheet 4
• ijms-19-00732.pdf

View BVdb publication page

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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: 403T>G; C135G

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach.

The Oncologist

Kato, Shumei S; Kurasaki, Kellie K; Ikeda, Sadakatsu S; Kurzrock, Razelle R

Publication Date: 2018-02

Variant appearance in text: TP53: C135G

PubMed Link: 29038235

Variant Present in the following documents:

• supp_the2017-0199_onco12285-sup-0001-suppinfo01.pdf

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: 403T>G; C135G

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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The In Vitro Stability of Circulating Tumour DNA.

Plos One

Henao Diaz, Emanuela E; Yachnin, Jeffrey J; Grönberg, Henrik H; Lindberg, Johan J

Publication Date: 2016

Variant appearance in text: TP53: Cys135Gly

PubMed Link: 27959945

Variant Present in the following documents:

• pone.0168153.s005.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: C135G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing.

Scientific Reports

Cole, Alexander J AJ; Dwight, Trisha T; Gill, Anthony J AJ; Dickson, Kristie-Ann KA; Zhu, Ying Y; Clarkson, Adele A; Gard, Gregory B GB; Maidens, Jayne J; Valmadre, Susan S; Clifton-Bligh, Roderick R; Marsh, Deborah J DJ

Publication Date: 2016-05-18

Variant appearance in text: p53: 403T>G

PubMed Link: 27189670

Variant Present in the following documents:

• srep26191-s1.pdf

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REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports

Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF

Publication Date: 2016-03-15

Variant appearance in text: TP53: C135G

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

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Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget

Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S

Publication Date: 2016-04-19

Variant appearance in text: TP53: C135G

PubMed Link: 26933808

Variant Present in the following documents:

• oncotarget-07-21556-s001.pdf

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Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification.

Cell Death & Disease

te Raa, G D GD; Moerland, P D PD; Leeksma, A C AC; Derks, I A IA; Yigittop, H H; Laddach, N N; Loden-van Straaten, M M; Navrkalova, V V; Trbusek, M M; Luijks, D M DM; Zenz, T T; Skowronska, A A; Hoogendoorn, M M; Stankovic, T T; van Oers, M H MH; Eldering, E E; Kater, A P AP

Publication Date: 2015-08-06

Variant appearance in text: TP53: C135G

PubMed Link: 26247737

Variant Present in the following documents:

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: C135G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: C135G

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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High-throughput mutate-map-rescue evaluates SHAPE-directed RNA structure and uncovers excited states.

Rna (New York, N.Y.)

Tian, Siqi S; Cordero, Pablo P; Kladwang, Wipapat W; Das, Rhiju R

Publication Date: 2014-11

Variant appearance in text: p53: C135G

PubMed Link: 25183835

Variant Present in the following documents:

• 1815.pdf

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Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One

Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY

Publication Date: 2013

Variant appearance in text: TP53: C135G

PubMed Link: 23700467

Variant Present in the following documents:

• pone.0064271.s004.xlsx, sheet 1

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Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.

Plos One

Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P

Publication Date: 2011

Variant appearance in text: TP53: 403T>G; C135G

PubMed Link: 22216294

Variant Present in the following documents:

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: C135G

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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