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: rs786202222

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.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: rs786202222

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_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: rs786202222

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports

D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F

Publication Date: 2019-11-21

Variant appearance in text: TP53: 615T>C; Y205Y; rs786202222

PubMed Link: 31754145

Variant Present in the following documents:

• 41598_2019_53660_MOESM1_ESM.pdf

View BVdb publication page

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Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R

Publication Date: 2019-05

Variant appearance in text: TP53: Y205Y

PubMed Link: 31011206

Variant Present in the following documents:

• NIHMS1522524-supplement-Sup_Tables_1_-_2.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: 615T>C; Tyr205=

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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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: Y205Y

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 1

View BVdb publication page

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An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis.

Bmc Medical Genomics

Bonnet, Françoise F; Guedj, Mickael M; Jones, Natalie N; Sfar, Sana S; Brouste, Véronique V; Elarouci, Nabila N; Banneau, Guillaume G; Orsetti, Béatrice B; Primois, Charlotte C; de Lara, Christine Tunon CT; Debled, Marc M; de Mascarel, Isabelle I; Theillet, Charles C; Sévenet, Nicolas N; de Reynies, Aurélien A; MacGrogan, Gaëtan G; Longy, Michel M

Publication Date: 2012-11-27

Variant appearance in text: TP53: 615T>C

PubMed Link: 23186559

Variant Present in the following documents:

• 1755-8794-5-54-S1.pdf

View BVdb publication page

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Drug resistance to inhibitors of the human double minute-2 E3 ligase is mediated by point mutations of p53, but can be overcome with the p53 targeting agent RITA.

Molecular Cancer Therapeutics

Jones, Richard J RJ; Bjorklund, Chad C CC; Baladandayuthapani, Veerabhadran V; Kuhn, Deborah J DJ; Orlowski, Robert Z RZ

Publication Date: 2012-10

Variant appearance in text: p53: Y205Y

PubMed Link: 22933706

Variant Present in the following documents:

• Main text

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