Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: TP53: E388A

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TP53: 1163A>C; Glu388Ala

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_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: rs587781736

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

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: 1163A>C; Glu388Ala; rs587781736

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: rs587781736

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: rs587781736

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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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: 1163A>C

PubMed Link: 33245408

Variant Present in the following documents:

• 404_2020_Article_5883.pdf

View BVdb publication page

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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: 1163A>C

PubMed Link: 33245408

Variant Present in the following documents:

• 404_2020_Article_5883.pdf

View BVdb publication page

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c-Myc inactivation of p53 through the pan-cancer lncRNA MILIP drives cancer pathogenesis.

Nature Communications

Feng, Yu Chen YC; Liu, Xiao Ying XY; Teng, Liu L; Ji, Qiang Q; Wu, Yongyan Y; Li, Jin Ming JM; Gao, Wei W; Zhang, Yuan Yuan YY; La, Ting T; Tabatabaee, Hessam H; Yan, Xu Guang XG; Jamaluddin, M Fairuz B MFB; Zhang, Didi D; Guo, Su Tang ST; Scott, Rodney J RJ; Liu, Tao T; Thorne, Rick F RF; Zhang, Xu Dong XD; Jin, Lei L

Publication Date: 2020-10-05

Variant appearance in text: p53: E388A

PubMed Link: 33020477

Variant Present in the following documents:

• 41467_2020_Article_18735.pdf
• 41467_2020_18735_MOESM1_ESM.pdf

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: 1163A>C; Glu388Ala

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
• supp_mcs.a003921_Supplemental_Table_2.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: 1163A>C; Glu388Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: E388A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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PML IV/ARF interaction enhances p53 SUMO-1 conjugation, activation, and senescence.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ivanschitz, Lisa L; Takahashi, Yuki Y; Jollivet, Florence F; Ayrault, Olivier O; Le Bras, Morgane M; de Thé, Hugues H

Publication Date: 2015-11-17

Variant appearance in text: p53: E388A

PubMed Link: 26578773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Journal Of Medical Genetics

Li, Jun J; Meeks, Huong H; Feng, Bing-Jian BJ; Healey, Sue S; Thorne, Heather H; Makunin, Igor I; Ellis, Jonathan J; , ; Campbell, Ian I; Southey, Melissa M; Mitchell, Gillian G; Clouston, David D; Kirk, Judy J; Goldgar, David D; Chenevix-Trench, Georgia G

Publication Date: 2016-01

Variant appearance in text: TP53: 1163A>C; Glu388Ala

PubMed Link: 26534844

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of predicted and actual consequences of missense mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Miosge, Lisa A LA; Field, Matthew A MA; Sontani, Yovina Y; Cho, Vicky V; Johnson, Simon S; Palkova, Anna A; Balakishnan, Bhavani B; Liang, Rong R; Zhang, Yafei Y; Lyon, Stephen S; Beutler, Bruce B; Whittle, Belinda B; Bertram, Edward M EM; Enders, Anselm A; Goodnow, Christopher C CC; Andrews, T Daniel TD

Publication Date: 2015-09-15

Variant appearance in text: TP53: E388A

PubMed Link: 26269570

Variant Present in the following documents:

• Main text

View BVdb publication page

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MDM2 promotes SUMO-2/3 modification of p53 to modulate transcriptional activity.

Cell Cycle (Georgetown, Tex.)

Stindt, Maren H MH; Carter, Stephanie S; Vigneron, Arnaud M AM; Ryan, Kevin M KM; Vousden, Karen H KH

Publication Date: 2011-09-15

Variant appearance in text: p53: E388A

PubMed Link: 21900752

Variant Present in the following documents:

• Main text

View BVdb publication page

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