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: rs769934890

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: TP53: R333G

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7
• Table3.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TP53: 997C>G

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer

Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E

Publication Date: 2022-05-03

Variant appearance in text: rs769934890

PubMed Link: 35505283

Variant Present in the following documents:

• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Kidney International Reports

Denicolò, Sara S; Vogi, Verena V; Keller, Felix F; Thöni, Stefanie S; Eder, Susanne S; Heerspink, Hiddo J L HJL; Rosivall, László L; Wiecek, Andrzej A; Mark, Patrick B PB; Perco, Paul P; Leierer, Johannes J; Kronbichler, Andreas A; Steger, Marion M; Schwendinger, Simon S; Zschocke, Johannes J; Mayer, Gert G; Jukic, Emina E

Publication Date: 2022-04

Variant appearance in text: TP53: 997C>G; Arg333Gly

PubMed Link: 35497780

Variant Present in the following documents:

• mmc1.pdf

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: Arg333Gly

PubMed Link: 35043155

Variant Present in the following documents:

• supplementary_information_bbab524.pdf

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: rs769934890

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: rs769934890

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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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: 997C>G; R333G

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: TP53: 997C>G

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pathogenic Germline Variants in 10,389 Adult Cancers.

Cell

Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L

Publication Date: 2018-04-05

Variant appearance in text: TP53: R333G

PubMed Link: 29625052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Cancer Research

Leroy, Bernard B; Ballinger, Mandy L ML; Baran-Marszak, Fanny F; Bond, Gareth L GL; Braithwaite, Antony A; Concin, Nicole N; Donehower, Lawrence A LA; El-Deiry, Wafik S WS; Fenaux, Pierre P; Gaidano, Gianluca G; Langerød, Anita A; Hellstrom-Lindberg, Eva E; Iggo, Richard R; Lehmann-Che, Jacqueline J; Mai, Phuong L PL; Malkin, David D; Moll, Ute M UM; Myers, Jeffrey N JN; Nichols, Kim E KE; Pospisilova, Sarka S; Ashton-Prolla, Patricia P; Rossi, Davide D; Savage, Sharon A SA; Strong, Louise C LC; Tonin, Patricia N PN; Zeillinger, Robert R; Zenz, Thorsten T; Fraumeni, Joseph F JF; Taschner, Peter E M PE; Hainaut, Pierre P; Soussi, Thierry T

Publication Date: 2017-03-15

Variant appearance in text: TP53: 997C>G

PubMed Link: 28254861

Variant Present in the following documents:

• Main text

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: R333G

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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