PTEN c.68T>A ;(p.L23*)

Variant ID: 10-89624294-T-A

NM_000314.4(PTEN):c.68T>A;(p.L23*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A computational method for prioritizing targeted therapies in precision oncology: performance analysis in the SHIVA01 trial.

Npj Precision Oncology
Petak, Istvan I; Kamal, Maud M; Dirner, Anna A; Bieche, Ivan I; Doczi, Robert R; Mariani, Odette O; Filotas, Peter P; Salomon, Anne A; Vodicska, Barbara B; Servois, Vincent V; Varkondi, Edit E; Gentien, David D; Tihanyi, Dora D; Tresca, Patricia P; Lakatos, Dora D; Servant, Nicolas N; Deri, Julia J; du Rusquec, Pauline P; Hegedus, Csilla C; Bello Roufai, Diana D; Schwab, Richard R; Dupain, Celia C; Valyi-Nagy, Istvan T IT; Le Tourneau, Christophe C
Publication Date: 2021-06-23

Variant appearance in text: PTEN: L23*
PubMed Link: 34162980
Variant Present in the following documents:
  • 41698_2021_191_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exceptional Response to AKT Inhibition in Patients With Breast Cancer and Germline PTEN Mutations.

Jco Precision Oncology
Kingston, Belinda B; Bailleux, Caroline C; Delaloge, Suzette S; Schiavon, Gaia G; Scott, Veronique V; Lacroix-Triki, Magali M; Carr, T Hedley TH; Kozarewa, Iwanka I; Gevensleben, Heidrun H; Kemp, Zoe Z; Pearson, Alex A; Turner, Nicholas N; André, Fabrice F
Publication Date: 2019

Variant appearance in text: PTEN: L23X
PubMed Link: 32923864
Variant Present in the following documents:
  • Main text
  • PO.19.00130.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: PTEN: L23*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: PTEN: 68T>A
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



Germline PTEN mutations are rare and highly penetrant.

Hereditary Cancer In Clinical Practice
Rustad, Cecilie F CF; Bjørnslett, Merete M; Heimdal, Ketil R KR; Mæhle, Lovise L; Apold, Jaran J; Møller, Pål P
Publication Date: 2006-12-15

Variant appearance in text: PTEN: 68T>A
PubMed Link: 20223021
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-177.pdf
View BVdb publication page