TP53 c.80C>T ;(p.P27L)

Variant ID: 17-7579716-G-A

NM_000546.5(TP53):c.80C>T;(p.P27L)

This variant was identified in 45 publications

View GRCh38 version.




Publications:


Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: p53: 80C>T
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s002.xlsx, sheet 1
View BVdb publication page



Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics
Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y
Publication Date: 2022

Variant appearance in text: TP53: 80C>T; A27V
PubMed Link: 36685892
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: TP53: P27L
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: TP53: 80C>T
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME
Publication Date: 2022-10-12

Variant appearance in text: TP53: P27L
PubMed Link: 36222846
Variant Present in the following documents:
  • ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1
  • ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: p53: P27L
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Nature Genetics
Rouhani, Foad J FJ; Zou, Xueqing X; Danecek, Petr P; Badja, Cherif C; Amarante, Tauanne Dias TD; Koh, Gene G; Wu, Qianxin Q; Memari, Yasin Y; Durbin, Richard R; Martincorena, Inigo I; Bassett, Andrew R AR; Gaffney, Daniel D; Nik-Zainal, Serena S
Publication Date: 2022-09

Variant appearance in text: TP53: P27L
PubMed Link: 35953586
Variant Present in the following documents:
  • 41588_2022_1147_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



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: 80C>T; P27L
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.

Breast (Edinburgh, Scotland)
Guo, Yonghai Y; Wan, Qiting Q; Ouyang, Tao T; Li, Jinfeng J; Wang, Tianfeng T; Fan, Zhaoqing Z; Xie, Yuntao Y
Publication Date: 2022-10

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 35820297
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01

Variant appearance in text: TP53: 80C>T; Pro27Leu
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17

Variant appearance in text: TP53: 80C>T; Pro27Leu
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genistein: An Integrative Overview of Its Mode of Action, Pharmacological Properties, and Health Benefits.

Oxidative Medicine And Cellular Longevity
Sharifi-Rad, Javad J; Quispe, Cristina C; Imran, Muhammad M; Rauf, Abdur A; Nadeem, Muhammad M; Gondal, Tanweer Aslam TA; Ahmad, Bashir B; Atif, Muhammad M; Mubarak, Mohammad S MS; Sytar, Oksana O; Zhilina, Oxana Mihailovna OM; Garsiya, Ekaterina Robertovna ER; Smeriglio, Antonella A; Trombetta, Domenico D; Pons, Daniel Gabriel DG; Martorell, Miquel M; Cardoso, Susana M SM; Razis, Ahmad Faizal Abdull AFA; Sunusi, Usman U; Kamal, Ramla Muhammad RM; Rotariu, Lia Sanda LS; Butnariu, Monica M; Docea, Anca Oana AO; Calina, Daniela D
Publication Date: 2021

Variant appearance in text: p53: p27l
PubMed Link: 34336089
Variant Present in the following documents:
  • OMCL2021-3268136.pdf
View BVdb publication page



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: 80C>T; Pro27Leu
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: TP53: 80C>T
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 6
View BVdb publication page



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: P27L
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations.

Journal Of Breast Cancer
Alyami, Hassan H; Yoo, Tae Kyung TK; Cheun, Jong Ho JH; Lee, Han Byoel HB; Jung, Sung Mi SM; Ryu, Jai Min JM; Bae, Soong June SJ; Jeong, Joon J; Yoon, Chang Ik CI; Ahn, Juneyoung J; Paik, Pill Sun PS; Cho, Min Kyung MK; Park, Woo Chan WC
Publication Date: 2021-04

Variant appearance in text: TP53: Pro27Leu
PubMed Link: 33818021
Variant Present in the following documents:
  • Main text
  • jbc-24-175.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.

Annals Of Laboratory Medicine
Chae, Hyojin H; Sung, Pil Soo PS; Choi, Hayoung H; Kwon, Ahlm A; Kang, Dain D; Kim, Yonggoo Y; Kim, Myungshin M; Yoon, Seung Kew SK
Publication Date: 2021-03-01

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 33063681
Variant Present in the following documents:
  • Main text
  • ALM-41-198.pdf
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: TP53: 80C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



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: P27L
PubMed Link: 32484602
Variant Present in the following documents:
  • MOL2-14-1640-s002.pdf
View BVdb publication page



Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Cancers
Segura-Díaz, Adrián A; Stuckey, Ruth R; Florido, Yanira Y; González-Martín, Jesús María JM; López-Rodríguez, Juan Francisco JF; Sánchez-Sosa, Santiago S; González-Pérez, Elena E; Sáez Perdomo, María Nieves MN; Perera, María Del Mar MDM; de la Iglesia, Silvia S; Molero-Labarta, Teresa T; Gómez-Casares, María Teresa MT; Bilbao-Sieyro, Cristina C
Publication Date: 2020-04-10

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 32290079
Variant Present in the following documents:
  • cancers-12-00934-s001.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: P27L
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



ctDNA detected by ddPCR reveals changes in tumour load in metastatic malignant melanoma treated with bevacizumab.

Scientific Reports
Forthun, Rakel Brendsdal RB; Hovland, Randi R; Schuster, Cornelia C; Puntervoll, Hanne H; Brodal, Hans Petter HP; Namløs, Heidi Maria HM; Aasheim, Lars Birger LB; Meza-Zepeda, Leonardo A LA; Gjertsen, Bjørn Tore BT; Knappskog, Stian S; Straume, Oddbjørn O
Publication Date: 2019-11-25

Variant appearance in text: TP53: P27L
PubMed Link: 31767937
Variant Present in the following documents:
  • 41598_2019_53917_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: TP53: Pro27Leu
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Rotow, Julia K JK; Gui, Philippe P; Wu, Wei W; Raymond, Victoria M VM; Lanman, Richard B RB; Kaye, Frederic J FJ; Peled, Nir N; Fece de la Cruz, Ferran F; Nadres, Brandon B; Corcoran, Ryan B RB; Yeh, Iwei I; Bastian, Boris C BC; Starostik, Petr P; Newsom, Kimberly K; Olivas, Victor R VR; Wolff, Alexander M AM; Fraser, James S JS; Collisson, Eric A EA; McCoach, Caroline E CE; Camidge, D Ross DR; Pacheco, Jose J; Bazhenova, Lyudmila L; Li, Tianhong T; Bivona, Trever G TG; Blakely, Collin M CM
Publication Date: 2020-01-15

Variant appearance in text: TP53: P27L
PubMed Link: 31548343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: TP53: P27L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



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: 80C>T; Pro27Leu
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Mutation Hotspots in the β-Catenin Gene: Lessons from the Human Cancer Genome Databases.

Molecules And Cells
Kim, Sewoon S; Jeong, Sunjoo S
Publication Date: 2019-01-31

Variant appearance in text: TP53: P27L
PubMed Link: 30699286
Variant Present in the following documents:
  • Main text
  • molce-42-1-8.pdf
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: TP53: P27L
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.

Plos One
Gale, Davina D; Lawson, Andrew R J ARJ; Howarth, Karen K; Madi, Mikidache M; Durham, Bradley B; Smalley, Sarah S; Calaway, John J; Blais, Shannon S; Jones, Greg G; Clark, James J; Dimitrov, Peter P; Pugh, Michelle M; Woodhouse, Samuel S; Epstein, Michael M; Fernandez-Gonzalez, Ana A; Whale, Alexandra S AS; Huggett, Jim F JF; Foy, Carole A CA; Jones, Gerwyn M GM; Raveh-Amit, Hadas H; Schmitt, Karin K; Devonshire, Alison A; Green, Emma E; Forshew, Tim T; Plagnol, Vincent V; Rosenfeld, Nitzan N
Publication Date: 2018

Variant appearance in text: TP53: P27L
PubMed Link: 29547634
Variant Present in the following documents:
  • Main text
  • pone.0194630.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: TP53: 80C>T
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Digested disorder: Quarterly intrinsic disorder digest (January/February/March, 2013).

Intrinsically Disordered Proteins
Uversky, Vladimir N VN
Publication Date: 2013

Variant appearance in text: p53: P27L
PubMed Link: 28516015
Variant Present in the following documents:
  • Main text
  • kidp-01-01-10925496.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



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: P27L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TP53: 80C>T; P27L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: TP53: P27L
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.xls, sheet 1
View BVdb publication page



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: 80C>T; P27L
PubMed Link: 26881778
Variant Present in the following documents:
  • pmed.1001961.s013.pdf
View BVdb publication page



Expression signature based on TP53 target genes doesn't predict response to TP53-MDM2 inhibitor in wild type TP53 tumors.

Elife
Sonkin, Dmitriy D
Publication Date: 2015-10-22

Variant appearance in text: TP53: P27L
PubMed Link: 26491944
Variant Present in the following documents:
  • Main text
  • elife-10279-supp1.xls, sheet 5
  • elife-10279.pdf
View BVdb publication page



Genetic modifiers and oligogenic inheritance.

Cold Spring Harbor Perspectives In Medicine
Kousi, Maria M; Katsanis, Nicholas N
Publication Date: 2015-06-01

Variant appearance in text: p53: P27L
PubMed Link: 26033081
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P27L
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TP53: P27L
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
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Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Nature Genetics
Taylor, Kathryn R KR; Mackay, Alan A; Truffaux, Nathalène N; Butterfield, Yaron Y; Morozova, Olena O; Philippe, Cathy C; Castel, David D; Grasso, Catherine S CS; Vinci, Maria M; Carvalho, Diana D; Carcaboso, Angel M AM; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Entz-Werle, Natacha N; Ingram, Wendy J WJ; Monje, Michelle M; Hargrave, Darren D; Bullock, Alex N AN; Puget, Stéphanie S; Yip, Stephen S; Jones, Chris C; Grill, Jacques J
Publication Date: 2014-05

Variant appearance in text: TP53: 80C>T
PubMed Link: 24705252
Variant Present in the following documents:
  • NIHMS57117-supplement-2.xlsx, sheet 2
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Rhodopsin gene expression determines rod outer segment size and rod cell resistance to a dominant-negative neurodegeneration mutant.

Plos One
Price, Brandee A BA; Sandoval, Ivette M IM; Chan, Fung F; Nichols, Ralph R; Roman-Sanchez, Ramon R; Wensel, Theodore G TG; Wilson, John H JH
Publication Date: 2012

Variant appearance in text: p53: P27L
PubMed Link: 23185477
Variant Present in the following documents:
  • pone.0049889.pdf
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Multiscale modelling of vascular tumour growth in 3D: the roles of domain size and boundary conditions.

Plos One
Perfahl, Holger H; Byrne, Helen M HM; Chen, Tingan T; Estrella, Veronica V; Alarcón, Tomás T; Lapin, Alexei A; Gatenby, Robert A RA; Gillies, Robert J RJ; Lloyd, Mark C MC; Maini, Philip K PK; Reuss, Matthias M; Owen, Markus R MR
Publication Date: 2011-04-13

Variant appearance in text: p53: p27l
PubMed Link: 21533234
Variant Present in the following documents:
  • pone.0014790.s008.pdf
View BVdb publication page