TP53 c.827_841del ;(p.A276_R280del)

Variant ID: 17-7577096-TCTCTCCCAGGACAGG-T

NM_000546.5(TP53):c.827_841del;(p.A276_R280del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05

Variant appearance in text: TP53: A276_R280del
PubMed Link: 33811746
Variant Present in the following documents:
  • CAM4-10-3045-s001.xlsx, sheet 3
  • CAM4-10-3045-s001.xlsx, sheet 2
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: 826_840del
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

Plos One
Mitchell, Gillian G; Ballinger, Mandy L ML; Wong, Stephen S; Hewitt, Chelsee C; James, Paul P; Young, Mary-Anne MA; Cipponi, Arcadi A; Pang, Tiffany T; Goode, David L DL; Dobrovic, Alex A; Thomas, David M DM; ,
Publication Date: 2013

Variant appearance in text: TP53: 826_840del
PubMed Link: 23894400
Variant Present in the following documents:
  • Main text
  • pone.0069026.pdf
View BVdb publication page