TP53 c.742del ;(p.R248Gfs*97)

Variant ID: 17-7577538-CG-C

NM_000546.5(TP53):c.742del;(p.R248Gfs*97)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine
Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H
Publication Date: 2021-12

Variant appearance in text: TP53: 742del; R248Gfs*97
PubMed Link: 34779146
Variant Present in the following documents:
  • CAM4-10-8581-s002.xlsx, sheet 1
View BVdb publication page



TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine
Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H
Publication Date: 2021-12

Variant appearance in text: TP53: 742del; R248Gfs*97
PubMed Link: 34779146
Variant Present in the following documents:
  • CAM4-10-8581-s002.xlsx, sheet 1
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: 742del; R248Gfs*97
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: 742delC
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.

Endocrine Connections
Gerber, Tiemo S TS; Schad, Arno A; Hartmann, Nils N; Springer, Erik E; Zechner, Ulrich U; Musholt, Thomas J TJ
Publication Date: 2018-01

Variant appearance in text: TP53: 742delC
PubMed Link: 29133385
Variant Present in the following documents:
  • ec-7-47-t001.pdf
View BVdb publication page



Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Nature Medicine
Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA
Publication Date: 2014-06

Variant appearance in text: p53: R248fs*97
PubMed Link: 24836576
Variant Present in the following documents:
  • NIHMS531666-supplement-10.xlsx, sheet 1
View BVdb publication page