TP53 c.1124_1182del ;(p.Q375Pfs*76)

Variant ID: 17-7572927-GTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACT-G

NM_000546.5(TP53):c.1124_1182del;(p.Q375Pfs*76)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: 1_1182del
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Synergistic effects of PRIMA-1Met (APR-246) and 5-azacitidine in TP53-mutated myelodysplastic syndromes and acute myeloid leukemia.

Haematologica
Maslah, Nabih N; Salomao, Norman N; Drevon, Louis L; Verger, Emmanuelle E; Partouche, Nicolas N; Ly, Pierre P; Aubin, Philippe P; Naoui, Nadia N; Schlageter, Marie-Helene MH; Bally, Cecile C; Miekoutima, Elsa E; Rahmé, Ramy R; Lehmann-Che, Jacqueline J; Ades, Lionel L; Fenaux, Pierre P; Cassinat, Bruno B; Giraudier, Stephane S
Publication Date: 2020-06

Variant appearance in text: TP53: 1_1182del
PubMed Link: 31488557
Variant Present in the following documents:
  • Main text
  • 1051539.pdf
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: 1_1182del
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma.

Cancer Science
Nakamura, Taishi T; Fukuoka, Kohei K; Nakano, Yoshiko Y; Yamasaki, Kai K; Matsushita, Yuko Y; Yamashita, Satoshi S; Ikeda, Junji J; Udaka, Naoko N; Tanoshima, Reo R; Shiba, Norio N; Tateishi, Kensuke K; Yamanaka, Shoji S; Yamamoto, Tetsuya T; Hirato, Junko J; Ichimura, Koichi K
Publication Date: 2019-02

Variant appearance in text: TP53: 1_1182del
PubMed Link: 30609203
Variant Present in the following documents:
  • CAS-110-828-s011.xlsx, sheet 1
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: 1_1182del
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Drug-screening and genomic analyses of HER2-positive breast cancer cell lines reveal predictors for treatment response.

Breast Cancer (Dove Medical Press)
Jernström, Sandra S; Hongisto, Vesa V; Leivonen, Suvi-Katri SK; Due, Eldri Undlien EU; Tadele, Dagim Shiferaw DS; Edgren, Henrik H; Kallioniemi, Olli O; Perälä, Merja M; Mælandsmo, Gunhild Mari GM; Sahlberg, Kristine Kleivi KK
Publication Date: 2017

Variant appearance in text: TP53: 991_1182del
PubMed Link: 28356768
Variant Present in the following documents:
  • bctt-9-185.pdf
View BVdb publication page



Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports
Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V
Publication Date: 2017-03-03

Variant appearance in text: TP53: 1_1182del
PubMed Link: 28256603
Variant Present in the following documents:
  • srep42980-s2.xls, sheet 7
View BVdb publication page



Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Cold Spring Harbor Molecular Case Studies
Gröschel, Stefan S; Bommer, Martin M; Hutter, Barbara B; Budczies, Jan J; Bonekamp, David D; Heining, Christoph C; Horak, Peter P; Fröhlich, Martina M; Uhrig, Sebastian S; Hübschmann, Daniel D; Geörg, Christina C; Richter, Daniela D; Pfarr, Nicole N; Pfütze, Katrin K; Wolf, Stephan S; Schirmacher, Peter P; Jäger, Dirk D; von Kalle, Christof C; Brors, Benedikt B; Glimm, Hanno H; Weichert, Wilko W; Stenzinger, Albrecht A; Fröhling, Stefan S
Publication Date: 2016-11

Variant appearance in text: TP53: 1_1182del
PubMed Link: 27900363
Variant Present in the following documents:
  • supp_mcs.a001180_SuppTabS1.xls, sheet 2
View BVdb publication page



Exon expression arrays as a tool to identify new cancer genes.

Plos One
Schutte, Mieke M; Elstrodt, Fons F; Bralten, Linda B C LB; Nagel, Jord H A JH; Duijm, Elza E; Hollestelle, Antoinette A; Vuerhard, Maartje J MJ; Wasielewski, Marijke M; Peeters, Justine K JK; van der Spek, Peter P; Sillevis Smitt, Peter A PA; French, Pim J PJ
Publication Date: 2007-08-20

Variant appearance in text: p53: 994_1182del
PubMed Link: 18688287
Variant Present in the following documents:
  • Main text
  • pone.0003007.pdf
View BVdb publication page