Publications:

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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: 1054G>T; Asp352Tyr

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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Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications

Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX

Publication Date: 2021-05-24

Variant appearance in text: TP53: 1054G>T; Asp352Tyr

PubMed Link: 34031426

Variant Present in the following documents:

• 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: TP53: D352Y

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: p53: 1054G>T

PubMed Link: 33051313

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107059.pdf
• jmedgenet-2020-107059supp003.pdf

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: p53: 1054G>T

PubMed Link: 33051313

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107059.pdf
• jmedgenet-2020-107059supp003.pdf

View BVdb publication page

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Transcriptional profiling reveals a subset of human breast tumors that retain wt TP53 but display mutant p53-associated features.

Molecular Oncology

Benor, Gal G; Fuks, Garold G; Chin, Suet-Feung SF; Rueda, Oscar M OM; Mukherjee, Saptaparna S; Arandkar, Sharathchandra S; Aylon, Yael Y; Caldas, Carlos C; Domany, Eytan E; Oren, Moshe M

Publication Date: 2020-08

Variant appearance in text: TP53: D352Y

PubMed Link: 32484602

Variant Present in the following documents:

• MOL2-14-1640-s004.xlsx, sheet 1
• MOL2-14-1640-s002.pdf

View BVdb publication page

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Clinical Implications of Circulating Tumor DNA from Ascites and Serial Plasma in Ovarian Cancer.

Cancer Research And Treatment

Han, Mi-Ryung MR; Lee, Sug Hyung SH; Park, Jung Yoon JY; Hong, Hyosun H; Ho, Jung Yoon JY; Hur, Soo Young SY; Choi, Youn Jin YJ

Publication Date: 2020-07

Variant appearance in text: TP53: D352Y

PubMed Link: 32106643

Variant Present in the following documents:

• crt-2019-700-suppl4.pdf

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: TP53: D352Y

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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The dynamic conformational landscape of the protein methyltransferase SETD8.

Elife

Chen, Shi S; Wiewiora, Rafal P RP; Meng, Fanwang F; Babault, Nicolas N; Ma, Anqi A; Yu, Wenyu W; Qian, Kun K; Hu, Hao H; Zou, Hua H; Wang, Junyi J; Fan, Shijie S; Blum, Gil G; Pittella-Silva, Fabio F; Beauchamp, Kyle A KA; Tempel, Wolfram W; Jiang, Hualiang H; Chen, Kaixian K; Skene, Robert J RJ; Zheng, Yujun George YG; Brown, Peter J PJ; Jin, Jian J; Luo, Cheng C; Chodera, John D JD; Luo, Minkui M

Publication Date: 2019-05-13

Variant appearance in text: p53: D352Y

PubMed Link: 31081496

Variant Present in the following documents:

• Main text
• elife-45403.pdf

View BVdb publication page

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Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Breast Cancer Research : Bcr

Petridis, Christos C; Arora, Iteeka I; Shah, Vandna V; Megalios, Anargyros A; Moss, Charlotte C; Mera, Anca A; Clifford, Angela A; Gillett, Cheryl C; Pinder, Sarah E SE; Tomlinson, Ian I; Roylance, Rebecca R; Simpson, Michael A MA; Sawyer, Elinor J EJ

Publication Date: 2019-05-06

Variant appearance in text: TP53: D352Y

PubMed Link: 31060593

Variant Present in the following documents:

• Main text

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: 1054G>T; Asp352Tyr

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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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: TP53: D352Y

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

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: D352Y

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.

Nucleic Acids Research

Baradaran-Heravi, Alireza A; Balgi, Aruna D AD; Zimmerman, Carla C; Choi, Kunho K; Shidmoossavee, Fahimeh S FS; Tan, Jason S JS; Bergeaud, Célia C; Krause, Alexandra A; Flibotte, Stéphane S; Shimizu, Yoko Y; Anderson, Hilary J HJ; Mouly, Vincent V; Jan, Eric E; Pfeifer, Tom T; Jaquith, James B JB; Roberge, Michel M

Publication Date: 2016-08-19

Variant appearance in text: TP53: 1054G>T

PubMed Link: 27407112

Variant Present in the following documents:

• supp_gkw638_nar-01402-v-2016-File010.pdf

View BVdb publication page

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Microenvironmental Heterogeneity Parallels Breast Cancer Progression: A Histology-Genomic Integration Analysis.

Plos Medicine

Natrajan, Rachael R; Sailem, Heba H; Mardakheh, Faraz K FK; Arias Garcia, Mar M; Tape, Christopher J CJ; Dowsett, Mitch M; Bakal, Chris C; Yuan, Yinyin Y

Publication Date: 2016-02

Variant appearance in text: TP53: 1054G>T; D352Y

PubMed Link: 26881778

Variant Present in the following documents:

• pmed.1001961.s013.pdf

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: D352Y

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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