PTEN c.818_819inv ;(p.F273*)

Variant ID: 10-89720667-TT-AA

NM_000314.4(PTEN):c.818_819inv;(p.F273*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases
Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,
Publication Date: 2022-02-28

Variant appearance in text: PTEN: Phe273*
PubMed Link: 35227301
Variant Present in the following documents:
  • 13023_2021_2079_MOESM1_ESM.pdf
View BVdb publication page



Integrated multi-omics analyses on patient-derived CRC organoids highlight altered molecular pathways in colorectal cancer progression involving PTEN.

Journal Of Experimental & Clinical Cancer Research : Cr
Codrich, Marta M; Dalla, Emiliano E; Mio, Catia C; Antoniali, Giulia G; Malfatti, Matilde Clarissa MC; Marzinotto, Stefania S; Pierobon, Mariaelena M; Baldelli, Elisa E; Di Loreto, Carla C; Damante, Giuseppe G; Terrosu, Giovanni G; Pucillo, Carlo Ennio Michele CEM; Tell, Gianluca G
Publication Date: 2021-06-21

Variant appearance in text: PTEN: F273X
PubMed Link: 34154611
Variant Present in the following documents:
  • Main text
  • 13046_2021_Article_1986.pdf
View BVdb publication page