TP53 c.744G>A ;(p.R248=)

Variant ID: 17-7577537-C-T

NM_000546.5(TP53):c.744G>A;(p.R248=)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: R248R
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: TP53: 744G>A; R248R
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: p53: 744G>A
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: TP53: 744G>A; R248R
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Publication Date: 2021-01-08

Variant appearance in text: TP53: R248R
PubMed Link: 33420073
Variant Present in the following documents:
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

Cancers
Azzollini, Jacopo J; Schiavello, Elisabetta E; Buttarelli, Francesca Romana FR; Clerici, Carlo Alfredo CA; Tizzoni, Laura L; Vecchi, Giovanna De G; Capra, Fabio F; Pisati, Federica F; Biassoni, Veronica V; Runza, Letterio L; Carrabba, Giorgio G; Giangaspero, Felice F; Massimino, Maura M; Pensotti, Valeria V; Manoukian, Siranoush S
Publication Date: 2020-09-03

Variant appearance in text: TP53: Arg248=
PubMed Link: 32899294
Variant Present in the following documents:
  • Main text
  • cancers-12-02503.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TP53: R248R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer.

Frontiers In Oncology
Belardinilli, Francesca F; Capalbo, Carlo C; Malapelle, Umberto U; Pisapia, Pasquale P; Raimondo, Domenico D; Milanetti, Edoardo E; Yasaman, Mahdavian M; Liccardi, Carlotta C; Paci, Paola P; Sibilio, Pasquale P; Pepe, Francesco F; Bonfiglio, Caterina C; Mezi, Silvia S; Magri, Valentina V; Coppa, Anna A; Nicolussi, Arianna A; Gradilone, Angela A; Petroni, Marialaura M; Di Giulio, Stefano S; Fabretti, Francesca F; Infante, Paola P; Coni, Sonia S; Canettieri, Gianluca G; Troncone, Giancarlo G; Giannini, Giuseppe G
Publication Date: 2020

Variant appearance in text: TP53: R248R
PubMed Link: 32457828
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



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: R248R
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s007.xlsx, sheet 1
View BVdb publication page



BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity.

Brain Pathology (Zurich, Switzerland)
Nakajima, Nozomi N; Nobusawa, Sumihito S; Nakata, Satoshi S; Nakada, Mitsutoshi M; Yamazaki, Tatsuya T; Matsumura, Nozomi N; Harada, Kenichi K; Matsuda, Hadzki H; Funata, Nobuaki N; Nagai, Shoichi S; Nakamura, Hideo H; Sasaki, Atsushi A; Akimoto, Jiro J; Hirato, Junko J; Yokoo, Hideaki H
Publication Date: 2018-09

Variant appearance in text: TP53: R248R
PubMed Link: 29105198
Variant Present in the following documents:
  • Main text
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: 744G>A; R248R
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine
Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM
Publication Date: 2017-04-19

Variant appearance in text: TP53: R248R
PubMed Link: 28420421
Variant Present in the following documents:
  • 13073_2017_424_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates.

Nature Communications
Chitsazzadeh, Vida V; Coarfa, Cristian C; Drummond, Jennifer A JA; Nguyen, Tri T; Joseph, Aaron A; Chilukuri, Suneel S; Charpiot, Elizabeth E; Adelmann, Charles H CH; Ching, Grace G; Nguyen, Tran N TN; Nicholas, Courtney C; Thomas, Valencia D VD; Migden, Michael M; MacFarlane, Deborah D; Thompson, Erika E; Shen, Jianjun J; Takata, Yoko Y; McNiece, Kayla K; Polansky, Maxim A MA; Abbas, Hussein A HA; Rajapakshe, Kimal K; Gower, Adam A; Spira, Avrum A; Covington, Kyle R KR; Xiao, Weimin W; Gunaratne, Preethi P; Pickering, Curtis C; Frederick, Mitchell M; Myers, Jeffrey N JN; Shen, Li L; Yao, Hui H; Su, Xiaoping X; Rapini, Ronald P RP; Wheeler, David A DA; Hawk, Ernest T ET; Flores, Elsa R ER; Tsai, Kenneth Y KY
Publication Date: 2016-08-30

Variant appearance in text: TP53: R248R
PubMed Link: 27574101
Variant Present in the following documents:
  • ncomms12601-s2.xlsx, sheet 2
View BVdb publication page



Phase I Study of an AKT Inhibitor (MK-2206) Combined with Lapatinib in Adult Solid Tumors Followed by Dose Expansion in Advanced HER2+ Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Wisinski, Kari B KB; Tevaarwerk, Amye J AJ; Burkard, Mark E ME; Rampurwala, Murtuza M; Eickhoff, Jens J; Bell, Maria C MC; Kolesar, Jill M JM; Flynn, Christopher C; Liu, Glenn G
Publication Date: 2016-06-01

Variant appearance in text: TP53: R248R
PubMed Link: 27026198
Variant Present in the following documents:
  • Main text
View BVdb publication page



pERK, pAKT and p53 as tissue biomarkers in erlotinib-treated patients with advanced pancreatic cancer: a translational subgroup analysis from AIO-PK0104.

Bmc Cancer
Ormanns, Steffen S; Siveke, Jens T JT; Heinemann, Volker V; Haas, Michael M; Sipos, Bence B; Schlitter, Anna Melissa AM; Esposito, Irene I; Jung, Andreas A; Laubender, Rüdiger P RP; Kruger, Stephan S; Vehling-Kaiser, Ursula U; Winkelmann, Cornelia C; Fischer von Weikersthal, Ludwig L; Clemens, Michael R MR; Gauler, Thomas C TC; Märten, Angela A; Geissler, Michael M; Greten, Tim F TF; Kirchner, Thomas T; Boeck, Stefan S
Publication Date: 2014-08-28

Variant appearance in text: TP53: R248R
PubMed Link: 25164437
Variant Present in the following documents:
  • Main text
View BVdb publication page



RITA (Reactivating p53 and Inducing Tumor Apoptosis) is efficient against TP53abnormal myeloma cells independently of the p53 pathway.

Bmc Cancer
Surget, Sylvanie S; Descamps, Géraldine G; Brosseau, Carole C; Normant, Vincent V; Maïga, Sophie S; Gomez-Bougie, Patricia P; Gouy-Colin, Nadège N; Godon, Catherine C; Béné, Marie C MC; Moreau, Philippe P; Le Gouill, Steven S; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2014-06-14

Variant appearance in text: TP53: R248R
PubMed Link: 24927749
Variant Present in the following documents:
  • Main text
  • 1471-2407-14-437.pdf
View BVdb publication page



Specific mutation screening of TP53 gene by low-density DNA microarray.

Nanotechnology, Science And Applications
Rangel-López, Angélica A; Méndez-Tenorio, Alfonso A; Beattie, Kenneth L KL; Maldonado, Rogelio R; Mendoza, Patricia P; Vázquez, Guelaguetza G; Pérez-Plasencia, Carlos C; Sánchez, Martha M; Navarro, Guillermo G; Salcedo, Mauricio M
Publication Date: 2009

Variant appearance in text: p53: Arg248Arg
PubMed Link: 24198462
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.

The Journal Of Pathology
Xian, Wa W; Miron, Alexander A; Roh, Michael M; Semmel, Dana R DR; Yassin, Yosuf Y; Garber, Judy J; Oliva, Esther E; Goodman, Annekathryn A; Mehra, Karishma K; Berkowitz, Ross S RS; Crum, Christopher P CP; Quade, Bradley J BJ
Publication Date: 2010-01

Variant appearance in text: LFS1: R248R
PubMed Link: 19834951
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One
Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS
Publication Date: 2008

Variant appearance in text: TP53: R248R
PubMed Link: 19005564
Variant Present in the following documents:
  • pone.0003714.s008.xls, sheet 1
  • pone.0003714.s009.xls, sheet 1
View BVdb publication page