Publications:

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs781490101

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.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: K291R

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: 872A>G; Lys291Arg; rs781490101

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.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: 872A>G; K291R

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: 872A>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine

Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I

Publication Date: 2022-03-13

Variant appearance in text: TP53: 872A>G

PubMed Link: 35330454

Variant Present in the following documents:

• jpm-12-00453.pdf

View BVdb publication page

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Rational design of a helical peptide inhibitor targeting c-Myb-KIX interaction.

Scientific Reports

Suetaka, Shunji S; Oka, Yoshiki Y; Kunihara, Tomoko T; Hayashi, Yuuki Y; Arai, Munehito M

Publication Date: 2022-01-20

Variant appearance in text: p53: K291R

PubMed Link: 35058484

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4497.pdf

View BVdb publication page

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Rational design of a helical peptide inhibitor targeting c-Myb-KIX interaction.

Scientific Reports

Suetaka, Shunji S; Oka, Yoshiki Y; Kunihara, Tomoko T; Hayashi, Yuuki Y; Arai, Munehito M

Publication Date: 2022-01-20

Variant appearance in text: p53: K291R

PubMed Link: 35058484

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4497.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: 872A>G; K291R

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.

Technology In Cancer Research & Treatment

Sanders, Brooke E BE; Ku, Lisa L; Walker, Paul P; Bitler, Benjamin G BG

Publication Date: 2021

Variant appearance in text: TP53: K291R

PubMed Link: 34169762

Variant Present in the following documents:

• Main text
• 10.1177_15330338211027917.pdf

View BVdb publication page

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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy

Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S

Publication Date: 2022-06

Variant appearance in text: TP53: 872A>G; K291R

PubMed Link: 34045664

Variant Present in the following documents:

• 41417_2021_347_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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

Thoracic Cancer

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

Publication Date: 2021-05

Variant appearance in text: TP53: 872A>G; K291R

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: rs781490101

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: rs781490101

PubMed Link: 33257846

Variant Present in the following documents:

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

View BVdb publication page

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Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: TP53: K291R

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 14
• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3

View BVdb publication page

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Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: TP53: K291R

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3
• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 14

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: K291R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.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: 872A>G; K291R

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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Positive feedback regulation of p53 transactivity by DNA damage-induced ISG15 modification.

Nature Communications

Park, Jong Ho JH; Yang, Seung Wook SW; Park, Jung Mi JM; Ka, Seung Hyeun SH; Kim, Ji-Hoon JH; Kong, Young-Yun YY; Jeon, Young Joo YJ; Seol, Jae Hong JH; Chung, Chin Ha CH

Publication Date: 2016-08-22

Variant appearance in text: p53: K291R

PubMed Link: 27545325

Variant Present in the following documents:

• Main text
• ncomms12513.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: K291R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.

Gut

Yu, Jun J; Sadakari, Yoshihiko Y; Shindo, Koji K; Suenaga, Masaya M; Brant, Aaron A; Almario, Jose Alejandro Navarro JAN; Borges, Michael M; Barkley, Thomas T; Fesharakizadeh, Shahriar S; Ford, Madeline M; Hruban, Ralph H RH; Shin, Eun Ji EJ; Lennon, Anne Marie AM; Canto, Marcia Irene MI; Goggins, Michael M

Publication Date: 2017-09

Variant appearance in text: TP53: K291R

PubMed Link: 27432539

Variant Present in the following documents:

• Main text
• gutjnl-2015-311166.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: K291R

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: K291R

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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P53 nuclear stabilization is associated with FHIT loss and younger age of onset in squamous cell carcinoma of oral tongue.

Bmc Clinical Pathology

Adduri, Raju R; Kotapalli, Viswakalyan V; Gupta, Neha A NA; Gowrishankar, Swarnalata S; Srinivasulu, Mukta M; Ali, Mohammed Mujtaba MM; Rao, Subramanyeshwar S; Uppin, Shantveer G SG; Nayak, Umanath K UK; Dhagam, Snehalatha S; Chigurupati, Mohana Vamsy MV; Bashyam, Murali Dharan MD

Publication Date: 2014

Variant appearance in text: TP53: 872A>G

PubMed Link: 25152695

Variant Present in the following documents:

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: TP53: 872A>G; K291R

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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High frequency of complex TP53 mutations in CNS metastases from breast cancer.

British Journal Of Cancer

Lo Nigro, C C; Vivenza, D D; Monteverde, M M; Lattanzio, L L; Gojis, O O; Garrone, O O; Comino, A A; Merlano, M M; Quinlan, P R PR; Syed, N N; Purdie, C A CA; Thompson, A A; Palmieri, C C; Crook, T T

Publication Date: 2012-01-17

Variant appearance in text: TP53: Lys291Arg

PubMed Link: 22187033

Variant Present in the following documents:

• Main text
• bjc2011464a.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: K291R

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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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: K291R

PubMed Link: 19005564

Variant Present in the following documents:

• pone.0003714.s005.xls, sheet 1

View BVdb publication page

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