Publications:

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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: T256A

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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Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.

Hemasphere

Pilheden, Mattias M; Ahlgren, Louise L; Hyrenius-Wittsten, Axel A; Gonzalez-Pena, Veronica V; Sturesson, Helena H; Hansen Marquart, Hanne Vibeke HV; Lausen, Birgitte B; Castor, Anders A; Pronk, Cornelis Jan CJ; Barbany, Gisela G; Pokrovskaja Tamm, Katja K; Fogelstrand, Linda L; Lohi, Olli O; Norén-Nyström, Ulrika U; Asklin, Johanna J; Chen, Yilun Y; Song, Guangchun G; Walsh, Michael M; Ma, Jing J; Zhang, Jinghui J; Saal, Lao H LH; Gawad, Charles C; Hagström-Andersson, Anna K AK

Publication Date: 2022-10

Variant appearance in text: TP53: T256A

PubMed Link: 36204688

Variant Present in the following documents:

• hs9-6-e785-s001.xlsx, sheet 6

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: 766A>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial.

Nature Medicine

Sartore-Bianchi, Andrea A; Pietrantonio, Filippo F; Lonardi, Sara S; Mussolin, Benedetta B; Rua, Francesco F; Crisafulli, Giovanni G; Bartolini, Alice A; Fenocchio, Elisabetta E; Amatu, Alessio A; Manca, Paolo P; Bergamo, Francesca F; Tosi, Federica F; Mauri, Gianluca G; Ambrosini, Margherita M; Daniel, Francesca F; Torri, Valter V; Vanzulli, Angelo A; Regge, Daniele D; Cappello, Giovanni G; Marchiò, Caterina C; Berrino, Enrico E; Sapino, Anna A; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A

Publication Date: 2022-08

Variant appearance in text: TP53: T256A

PubMed Link: 35915157

Variant Present in the following documents:

• 41591_2022_1886_MOESM1_ESM.pdf

View BVdb publication page

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Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia.

Scientific Reports

Shao, Jianming J; Wang, Sihan S; West-Szymanski, Diana D; Karpus, Jason J; Shah, Shilpan S; Ganguly, Siddhartha S; Smith, Janice J; Zu, Youli Y; He, Chuan C; Li, Zejuan Z

Publication Date: 2022-07-20

Variant appearance in text: TP53: 766A>G; Thr256Ala

PubMed Link: 35859008

Variant Present in the following documents:

• 41598_2022_16685_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: TP53: 766A>G; Thr256Ala; rs587781433

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s006.xlsx, sheet 1

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: 766A>G; Thr256Ala; rs587781433

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Epithelial Mutant p53 Promotes Resistance to Anti-PD-1-Mediated Oral Cancer Immunoprevention in Carcinogen-Induced Mouse Models.

Cancers

Wang, Jin J; Hu, Yuan Y; Escamilla-Rivera, Vicente V; Gonzalez, Cassandra L CL; Tang, Lin L; Wang, Bingbing B; El-Naggar, Adel K AK; Myers, Jeffrey N JN; Caulin, Carlos C

Publication Date: 2021-03-23

Variant appearance in text: p53: T256A

PubMed Link: 33806894

Variant Present in the following documents:

• Main text
• cancers-13-01471.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: 766A>G; T256A

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Combined assay of Circulating Tumor DNA and Protein Biomarkers for early noninvasive detection and prognosis of Non-Small Cell Lung Cancer.

Journal Of Cancer

Yin, Jian-Xin JX; Hu, Wen-Wei WW; Gu, Hua H; Fang, Jian-Min JM

Publication Date: 2021

Variant appearance in text: TP53: 766A>G; T256A

PubMed Link: 33442424

Variant Present in the following documents:

• jcav12p1258s2.xlsx, sheet 7
• jcav12p1258s2.xlsx, sheet 6

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: T256A

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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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: T256A

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM5_ESM.xlsx, sheet 1

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: Thr256Ala

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 766A>G; T256A

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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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: 766A>G; Thr256Ala

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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PTEN self-regulates through USP11 via the PI3K-FOXO pathway to stabilize tumor suppression.

Nature Communications

Park, Mi Kyung MK; Yao, Yixin Y; Xia, Weiya W; Setijono, Stephanie Rebecca SR; Kim, Jae Hwan JH; Vila, Isabelle K IK; Chiu, Hui-Hsuan HH; Wu, Yun Y; Billalabeitia, Enrique González EG; Lee, Min Gyu MG; Kalb, Robert G RG; Hung, Mien-Chie MC; Pandolfi, Pier Paolo PP; Song, Su Jung SJ; Song, Min Sup MS

Publication Date: 2019-02-07

Variant appearance in text: p53: T256A

PubMed Link: 30733438

Variant Present in the following documents:

• 41467_2019_Article_8481.pdf

View BVdb publication page

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Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Plos One

Liao, Xiaoyan X; Hao, Yansheng Y; Zhang, Xiaofei X; Ward, Stephen S; Houldsworth, Jane J; Polydorides, Alexandros D AD; Harpaz, Noam N

Publication Date: 2019

Variant appearance in text: TP53: 766A>G; T256A

PubMed Link: 30730996

Variant Present in the following documents:

• pone.0212142.s001.xlsx, sheet 1

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: 766A>G; T256A

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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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: TP53: T256A

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s008.xlsx, sheet 1

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: 766A>G; T256A

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TP53: 766A>G; Thr256Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: TP53: 766A>G; T256A

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: TP53: 766A>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications

Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ

Publication Date: 2016-08-25

Variant appearance in text: TP53: T256A

PubMed Link: 27558455

Variant Present in the following documents:

• ncomms12493-s14.xlsx, sheet 1

View BVdb publication page

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Modeling the Etiology of p53-mutated Cancer Cells.

The Journal Of Biological Chemistry

Perez, Ricardo E RE; Shen, Hong H; Duan, Lei L; Kim, Reuben H RH; Kim, Terresa T; Park, No-Hee NH; Maki, Carl G CG

Publication Date: 2016-05-06

Variant appearance in text: p53: T256A

PubMed Link: 27022024

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: p53: T256A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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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: T256A

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: T256A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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9-Aminoacridine inhibition of HIV-1 Tat dependent transcription.

Virology Journal

Guendel, Irene I; Carpio, Lawrence L; Easley, Rebecca R; Van Duyne, Rachel R; Coley, William W; Agbottah, Emmanuel E; Dowd, Cynthia C; Kashanchi, Fatah F; Kehn-Hall, Kylene K

Publication Date: 2009-07-24

Variant appearance in text: p53: T256A

PubMed Link: 19630958

Variant Present in the following documents:

• Main text
• 1743-422X-6-114.pdf

View BVdb publication page

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Investigation and prediction of the severity of p53 mutants using parameters from structural calculations.

The Febs Journal

Carlsson, Jonas J; Soussi, Thierry T; Persson, Bengt B

Publication Date: 2009-08

Variant appearance in text: p53: T256A

PubMed Link: 19558493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One

Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS

Publication Date: 2008

Variant appearance in text: TP53: T256A

PubMed Link: 19005564

Variant Present in the following documents:

• pone.0003714.s008.xls, sheet 1

View BVdb publication page

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Hsp90 regulates the phosphorylation and activity of serum- and glucocorticoid-regulated kinase-1.

The Journal Of Biological Chemistry

Belova, Larissa L; Brickley, Deanna R DR; Ky, Betty B; Sharma, Sanjay K SK; Conzen, Suzanne D SD

Publication Date: 2008-07-04

Variant appearance in text: p53: T256A

PubMed Link: 18456663

Variant Present in the following documents:

• Main text

View BVdb publication page

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