PTEN c.888T>A ;(p.C296*)

Variant ID: 10-89720737-T-A

NM_000314.4(PTEN):c.888T>A;(p.C296*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics
Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ
Publication Date: 2020

Variant appearance in text: PTEN: C296X
PubMed Link: 33281875
Variant Present in the following documents:
  • Main text
  • fgene-11-577152.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: C296*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: PTEN: C296*
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

The Prostate
Cheng, Heather H HH; Klemfuss, Nola N; Montgomery, Bruce B; Higano, Celestia S CS; Schweizer, Michael T MT; Mostaghel, Elahe A EA; McFerrin, Lisa G LG; Yu, Evan Y EY; Nelson, Peter S PS; Pritchard, Colin C CC
Publication Date: 2016-10

Variant appearance in text: PTEN: C296X
PubMed Link: 27324988
Variant Present in the following documents:
  • Main text
View BVdb publication page