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: rs1287887419

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: rs1287887419

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: p53: Ser362Cys

PubMed Link: 35043155

Variant Present in the following documents:

• supplementary_information_bbab524.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: 1084A>T; Ser362Cys

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: rs1287887419

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: rs1287887419

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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Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma.

Journal Of Gynecologic Oncology

Kim, Yong Man YM; Lee, Shin Wha SW; Lee, Young Jae YJ; Lee, Ha Young HY; Lee, Jong Eun JE; Choi, Eun Kyung EK

Publication Date: 2019-05

Variant appearance in text: TP53: S362C

PubMed Link: 30887755

Variant Present in the following documents:

• jgo-30-e32-s004.xls, 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: 1084A>T; Ser362Cys

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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14-3-3 activation of DNA binding of p53 by enhancing its association into tetramers.

Nucleic Acids Research

Rajagopalan, Sridharan S; Jaulent, Agnes M AM; Wells, Mark M; Veprintsev, Dmitry B DB; Fersht, Alan R AR

Publication Date: 2008-10

Variant appearance in text: p53: S362C

PubMed Link: 18812399

Variant Present in the following documents:

• Main text
• gkn598.pdf

View BVdb publication page

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