Publications:

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Circulating tumour DNA analysis predicts relapse and improves risk stratification in primary refractory multiple myeloma.

Blood Cancer Journal

Mithraprabhu, Sridurga S; Reynolds, John J; Turner, Rose R; Quach, Hang H; Horvath, Noemi N; Kerridge, Ian I; Kalff, Anna A; Bergin, Krystal K; Hocking, Jay J; Yuen, Flora F; Khong, Tiffany T; Durie, Brian M BM; Spencer, Andrew A

Publication Date: 2023-02-13

Variant appearance in text: TP53: 661G>A; E221K

PubMed Link: 36781844

Variant Present in the following documents:

• 41408_2023_796_MOESM2_ESM.xlsx, sheet 1

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: E221K

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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Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: TP53: 661G>A; Glu221Lys; rs786201592

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.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: E221K

PubMed Link: 36117989

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: TP53: 661G>A; E221K

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Circulating Tumor DNA as a Predictive Marker of Recurrence for Patients With Stage II-III Breast Cancer Treated With Neoadjuvant Therapy.

Frontiers In Oncology

Lin, Po-Han PH; Wang, Ming-Yang MY; Lo, Chiao C; Tsai, Li-Wei LW; Yen, Tzu-Chun TC; Huang, Thomas Yoyan TY; Huang, Wei-Chih WC; Yang, Karen K; Chen, Chih-Kai CK; Fan, Sheng-Chih SC; Kuo, Sung-Hsin SH; Huang, Chiun-Sheng CS

Publication Date: 2021

Variant appearance in text: TP53: E221K

PubMed Link: 34868925

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2021-07-12

Variant appearance in text: TP53: 661G>A; Glu221Lys; rs786201592

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 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: 661G>A; E221K

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, 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: rs786201592

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: rs786201592

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 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: E221K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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: E221K

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Cancers

Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A

Publication Date: 2019-06-29

Variant appearance in text: TP53: E221K

PubMed Link: 31261969

Variant Present in the following documents:

• cancers-11-00917-s001.xlsx, sheet 2

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: 661G>A; Glu221Lys

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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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine

Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2019-01

Variant appearance in text: TP53: Glu221Lys

PubMed Link: 30578081

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Structural basis of ribosomal peptide macrocyclization in plants.

Elife

Haywood, Joel J; Schmidberger, Jason W JW; James, Amy M AM; Nonis, Samuel G SG; Sukhoverkov, Kirill V KV; Elias, Mikael M; Bond, Charles S CS; Mylne, Joshua S JS

Publication Date: 2018-01-31

Variant appearance in text: p53: E221K

PubMed Link: 29384475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches.

Oncotarget

Perdomo, Sandra S; Avogbe, Patrice H PH; Foll, Matthieu M; Abedi-Ardekani, Behnoush B; Facciolla, Violeta Lescher VL; Anantharaman, Devasena D; Chopard, Priscilia P; Calvez-Kelm, Florence Le FL; Vilensky, Marta M; Polesel, Jerry J; Holcatova, Ivana I; Simonato, Lorenzo L; Canova, Cristina C; Lagiou, Pagona P; McKay, James D JD; Brennan, Paul P

Publication Date: 2017-09-22

Variant appearance in text: TP53: 661G>A; Glu221Lys

PubMed Link: 29069814

Variant Present in the following documents:

• Main text
• oncotarget-08-72621.pdf

View BVdb publication page

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Mutational landscape reflects the biological continuum of plasma cell dyscrasias.

Blood Cancer Journal

Rossi, A A; Voigtlaender, M M; Janjetovic, S S; Thiele, B B; Alawi, M M; März, M M; Brandt, A A; Hansen, T T; Radloff, J J; Schön, G G; Hegenbart, U U; Schönland, S S; Langer, C C; Bokemeyer, C C; Binder, M M

Publication Date: 2017-02-24

Variant appearance in text: TP53: 661G>A

PubMed Link: 28234344

Variant Present in the following documents:

• Main text

View BVdb publication page

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The pathophysiological significance of PPM1D and therapeutic targeting of PPM1D-mediated signaling by GSK2830371 in mantle cell lymphoma.

Oncotarget

Kojima, Kensuke K; Maeda, Aya A; Yoshimura, Mariko M; Nishida, Yuki Y; Kimura, Shinya S

Publication Date: 2016-10-25

Variant appearance in text: p53: E221K

PubMed Link: 27626308

Variant Present in the following documents:

• oncotarget-07-69625.pdf

View BVdb publication page

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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: E221K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Consequences of point mutations in melanoma-associated antigen 4 (MAGE-A4) protein: Insights from structural and biophysical studies.

Scientific Reports

Hagiwara, Yoshio Y; Sieverling, Lina L; Hanif, Farina F; Anton, Jensy J; Dickinson, Eleanor R ER; Bui, Tam T T TT; Andreeva, Antonina A; Barran, Perdita E PE; Cota, Ernesto E; Nikolova, Penka V PV

Publication Date: 2016-04-28

Variant appearance in text: p53: E221K

PubMed Link: 27121989

Variant Present in the following documents:

• Main text
• srep25182.pdf

View BVdb publication page

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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: E221K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, 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: E221K

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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Induction of p53-mediated transcription and apoptosis by exportin-1 (XPO1) inhibition in mantle cell lymphoma.

Cancer Science

Yoshimura, Mariko M; Ishizawa, Jo J; Ruvolo, Vivian V; Dilip, Archana A; Quintás-Cardama, Alfonso A; McDonnell, Timothy J TJ; Neelapu, Sattva S SS; Kwak, Larry W LW; Shacham, Sharon S; Kauffman, Michael M; Tabe, Yoko Y; Yokoo, Masako M; Kimura, Shinya S; Andreeff, Michael M; Kojima, Kensuke K

Publication Date: 2014-07

Variant appearance in text: p53: E221K

PubMed Link: 24766216

Variant Present in the following documents:

• Main text
• cas0105-0795.pdf

View BVdb publication page

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Igf2 pathway dependency of the Trp53 developmental and tumour phenotypes.

Embo Molecular Medicine

Haley, Victoria L VL; Barnes, David J DJ; Sandovici, Ionel I; Constancia, Miguel M; Graham, Christopher F CF; Pezzella, Francesco F; Bühnemann, Claudia C; Carter, Emma J EJ; Hassan, A Bassim AB

Publication Date: 2012-08

Variant appearance in text: p53: E221K

PubMed Link: 22674894

Variant Present in the following documents:

• emmm0004-0705-SD2.pdf

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: E221K

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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