Publications:

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Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis.

Peerj

Congur, Irem I; Koni, Ekin E; Onat, Onur Emre OE; Tokcaer Keskin, Zeynep Z

Publication Date: 2023

Variant appearance in text: rs55819519

PubMed Link: 37096065

Variant Present in the following documents:

• peerj-11-15250-s005.xlsx, sheet 1

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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: rs55819519

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.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: 869G>C; Arg290Pro

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_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: rs55819519

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
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2

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: rs55819519

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM3_ESM.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: 869G>C; Arg290Pro

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs55819519

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology

Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R

Publication Date: 2018-02

Variant appearance in text: rs55819519

PubMed Link: 29415044

Variant Present in the following documents:

• pcbi.1005965.s007.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: R290P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Mutation spectrum of TP53 gene predicts clinicopathological features and survival of gastric cancer.

Oncotarget

Tahara, Tomomitsu T; Shibata, Tomoyuki T; Okamoto, Yasuyuki Y; Yamazaki, Jumpei J; Kawamura, Tomohiko T; Horiguchi, Noriyuki N; Okubo, Masaaki M; Nakano, Naoko N; Ishizuka, Takamitsu T; Nagasaka, Mitsuo M; Nakagawa, Yoshihito Y; Ohmiya, Naoki N

Publication Date: 2016-07-05

Variant appearance in text: rs55819519

PubMed Link: 27323394

Variant Present in the following documents:

• oncotarget-07-42252-s002.xlsx, sheet 1

View BVdb publication page

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A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

Nature Communications

Schell, Michael J MJ; Yang, Mingli M; Teer, Jamie K JK; Lo, Fang Yin FY; Madan, Anup A; Coppola, Domenico D; Monteiro, Alvaro N A AN; Nebozhyn, Michael V MV; Yue, Binglin B; Loboda, Andrey A; Bien-Willner, Gabriel A GA; Greenawalt, Danielle M DM; Yeatman, Timothy J TJ

Publication Date: 2016-06-15

Variant appearance in text: rs55819519

PubMed Link: 27302369

Variant Present in the following documents:

• ncomms11743-s2.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs55819519

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: rs55819519

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Mutant TP53 in duodenal samples of pancreatic juice from patients with pancreatic cancer or high-grade dysplasia.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Kanda, Mitsuro M; Sadakari, Yoshihiko Y; Borges, Michael M; Topazian, Mark M; Farrell, James J; Syngal, Sapna S; Lee, Jeffrey J; Kamel, Ihab I; Lennon, Anne Marie AM; Knight, Spencer S; Fujiwara, Sho S; Hruban, Ralph H RH; Canto, Marcia Irene MI; Goggins, Michael M

Publication Date: 2013-06

Variant appearance in text: TP53: R290P

PubMed Link: 23200980

Variant Present in the following documents:

• Main text

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Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

The American Journal Of Pathology

Soubeyran, Isabelle I; Mahouche, Isabelle I; Grigoletto, Aude A; Leste-Lasserre, Thierry T; Drutel, Guillaume G; Rey, Christophe C; Pedeboscq, Stephane S; Blanchard, France F; Brouste, Veronique V; Sabourin, Jean-Christophe JC; Bécouarn, Yves Y; Reiffers, Josy J; Ichas, François F; De Giorgi, Francesca F

Publication Date: 2011-05

Variant appearance in text: p53: R290P

PubMed Link: 21514416

Variant Present in the following documents:

• Main text

View BVdb publication page

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