Publications:

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Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.

Bmc Cancer

Xie, Jianjiang J; Yao, Weishen W; Chen, Lingxiu L; Zhu, Wenjun W; Liu, Qiang Q; Geng, Geng G; Fang, Jing J; Zhao, Yang Y; Xiao, Li L; Huang, Zhenhua Z; Zhao, Jing J

Publication Date: 2023-03-31

Variant appearance in text: TP53: Arg196Leu

PubMed Link: 37004022

Variant Present in the following documents:

• 12885_2023_10674_MOESM3_ESM.xlsx, sheet 1
• 12885_2023_10674_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical impact of TP53 disruption in chronic lymphocytic leukemia patients treated with ibrutinib: a campus CLL study.

Leukemia

Bomben, Riccardo R; Rossi, Francesca Maria FM; Vit, Filippo F; Bittolo, Tamara T; Zucchetto, Antonella A; Papotti, Robel R; Tissino, Erika E; Pozzo, Federico F; Degan, Massimo M; Polesel, Jerry J; Bulian, Pietro P; Marasca, Roberto R; Reda, Gianluigi G; Laurenti, Luca L; Olivieri, Jacopo J; Chiarenza, Annalisa A; Laureana, Roberta R; Postorino, Massimiliano M; Del Principe, Maria Ilaria MI; Cuneo, Antonio A; Gentile, Massimo M; Morabito, Fortunato F; Fronza, Gilberto G; Tafuri, Agostino A; Zaja, Francesco F; Foà, Robin R; Di Raimondo, Francesco F; Del Poeta, Giovanni G; Gattei, Valter V

Publication Date: 2023-02-18

Variant appearance in text: TP53: R196L

PubMed Link: 36807650

Variant Present in the following documents:

• 41375_2023_1845_MOESM1_ESM.pdf

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: R196L

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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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TP53: 587G>T; R196L

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

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: R196L

PubMed Link: 36117989

Variant Present in the following documents:

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

View BVdb publication page

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Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Blood Advances

Saygin, Caner C; Roloff, Gregory W GW; Hahn, Christopher N CN; Chhetri, Rakchha R; Gill, Saar I SI; Elmariah, Hany H; Talati, Chetasi C; Nunley, Emma E; Gao, Guimin G; Kim, Aelin A; Bishop, Michael R MR; Kosuri, Satyajit S; Das, Soma S; Singhal, Deepak D; Venugopal, Parvathy P; Homan, Claire Christine CC; Brown, Anna L AL; Scott, Hamish S HS; Hiwase, Devendra K DK; Godley, Lucy A LA

Publication Date: 2022-08-24

Variant appearance in text: TP53: R196L

PubMed Link: 36001442

Variant Present in the following documents:

• BLOODA_ADV-2022-008172-mmc1.pdf

View BVdb publication page

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Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports

Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL

Publication Date: 2022-04

Variant appearance in text: TP53: R196L

PubMed Link: 35392653

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Focal p53 protein expression and lymphovascular invasion in primary prostate tumors predict metastatic progression.

Scientific Reports

Gesztes, William W; Schafer, Cara C; Young, Denise D; Fox, Jesse J; Jiang, Jiji J; Chen, Yongmei Y; Kuo, Huai-Ching HC; Mwamukonda, Kuwong B KB; Dobi, Albert A; Burke, Allen P AP; Moul, Judd W JW; McLeod, David G DG; Rosner, Inger L IL; Petrovics, Gyorgy G; Tan, Shyh-Han SH; Cullen, Jennifer J; Srivastava, Shiv S; Sesterhenn, Isabell A IA

Publication Date: 2022-03-30

Variant appearance in text: p53: R196L

PubMed Link: 35354846

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8826.pdf

View BVdb publication page

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Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight

Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R

Publication Date: 2022-04-22

Variant appearance in text: TP53: R196L

PubMed Link: 35259128

Variant Present in the following documents:

• jciinsight-7-156534-s067.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs483352697

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.

Nature Cancer

Fiala, Elise M EM; Jayakumaran, Gowtham G; Mauguen, Audrey A; Kennedy, Jennifer A JA; Bouvier, Nancy N; Kemel, Yelena Y; Fleischut, Megan Harlan MH; Maio, Anna A; Salo-Mullen, Erin E EE; Sheehan, Margaret M; Arnold, Angela G AG; Latham, Alicia A; Carlo, Maria I MI; Cadoo, Karen K; Murkherjee, Semanti S; Slotkin, Emily K EK; Trippett, Tanya T; Bender, Julia Glade JG; Meyers, Paul A PA; Wexler, Leonard L; Dela Cruz, Filemon S FS; Cheung, Nai-Kong NK; Basu, Ellen E; Kentsis, Alex A; Ortiz, Michael M; Francis, Jasmine H JH; Dunkel, Ira J IJ; Khakoo, Yasmin Y; Gilheeney, Stephen S; Sait, Sameer Farouk SF; Forlenza, Christopher J CJ; Sulis, Maria M; Karajannis, Matthias M; Modak, Shakeel S; Gerstle, Justin T JT; Heaton, Todd E TE; Roberts, Stephen S; Yang, Ciyu C; Jairam, Sowmya S; Vijai, Joseph J; Topka, Sabine S; Friedman, Danielle N DN; Stadler, Zsofia K ZK; Robson, Mark M; Berger, Michael F MF; Schultz, Nikolaus N; Ladanyi, Marc M; O'Reilly, Richard J RJ; Abramson, David H DH; Ceyhan-Birsoy, Ozge O; Zhang, Liying L; Mandelker, Diana D; Shukla, Neerav N NN; Kung, Andrew L AL; Offit, Kenneth K; Zehir, Ahmet A; Walsh, Michael F MF

Publication Date: 2021-03

Variant appearance in text: TP53: Arg196Leu

PubMed Link: 34308366

Variant Present in the following documents:

• Main text

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: TP53: R196L

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.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: 587G>T; R196L

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_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: TP53: 587G>T; R196L

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_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: rs483352697

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: rs483352697

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: R196L

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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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: R196L

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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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: TP53: 587G>T; Arg196Leu; rs483352697

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Academic Pathology

Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD

Publication Date: 2019

Variant appearance in text: TP53: R196L

PubMed Link: 31206012

Variant Present in the following documents:

• Supplementary_Table_1.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: 587G>T; Arg196Leu

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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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: p53: 587G>T

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: TP53: 587G>T; R196L

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.

Nature Communications

Herling, Carmen D CD; Abedpour, Nima N; Weiss, Jonathan J; Schmitt, Anna A; Jachimowicz, Ron Daniel RD; Merkel, Olaf O; Cartolano, Maria M; Oberbeck, Sebastian S; Mayer, Petra P; Berg, Valeska V; Thomalla, Daniel D; Kutsch, Nadine N; Stiefelhagen, Marius M; Cramer, Paula P; Wendtner, Clemens-Martin CM; Persigehl, Thorsten T; Saleh, Andreas A; Altmüller, Janine J; Nürnberg, Peter P; Pallasch, Christian C; Achter, Viktor V; Lang, Ulrich U; Eichhorst, Barbara B; Castiglione, Roberta R; Schäfer, Stephan C SC; Büttner, Reinhard R; Kreuzer, Karl-Anton KA; Reinhardt, Hans Christian HC; Hallek, Michael M; Frenzel, Lukas P LP; Peifer, Martin M

Publication Date: 2018-02-20

Variant appearance in text: TP53: 587G>T; R196L

PubMed Link: 29463802

Variant Present in the following documents:

• 41467_2018_3170_MOESM4_ESM.xlsx, sheet 2
• 41467_2018_3170_MOESM4_ESM.xlsx, sheet 1

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: R196L

PubMed Link: 28234344

Variant Present in the following documents:

• Main text
• bcj201719a.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: R196L

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: R196L

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: R196L

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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TP53 mutations induced by BPDE in Xpa-WT and Xpa-Null human TP53 knock-in (Hupki) mouse embryo fibroblasts.

Mutation Research

Kucab, Jill E JE; van Steeg, Harry H; Luijten, Mirjam M; Schmeiser, Heinz H HH; White, Paul A PA; Phillips, David H DH; Arlt, Volker M VM

Publication Date: 2015-03

Variant appearance in text: TP53: 587G>T

PubMed Link: 25847421

Variant Present in the following documents:

• Main text
• mmc1.pdf

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: R196L

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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Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Nature Genetics

Goh, Gerald G; Scholl, Ute I UI; Healy, James M JM; Choi, Murim M; Prasad, Manju L ML; Nelson-Williams, Carol C; Kunstman, John W JW; Kuntsman, John W JW; Korah, Reju R; Suttorp, Anna-Carinna AC; Dietrich, Dimo D; Haase, Matthias M; Willenberg, Holger S HS; Stålberg, Peter P; Hellman, Per P; Akerström, Göran G; Björklund, Peyman P; Carling, Tobias T; Lifton, Richard P RP

Publication Date: 2014-06

Variant appearance in text: TP53: R196L

PubMed Link: 24747643

Variant Present in the following documents:

• NIHMS577752-supplement-1.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: R196L

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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