Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review.
In Vivo
; 37(4): 1432-1444, 2023.
Article
de En
| MEDLINE
| ID: mdl-37369490
ABSTRACT
Alternative splicing (AS), a crucial cellular process, is a source of transcriptomic expansion and protein variability. Its contribution to cancer development and progression among a vast repertoire of human diseases, is highlighted lately and is under extensive investigation. In this review, the relative recent aspects of AS as a hallmark of cancer are described. In parallel, the importance of the identification of splicing-related variants through next-generation sequencing technologies is discussed. Cancer therapy and the management of patients and their families can highly benefit by the classification of these variants.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Prédisposition génétique à une maladie
/
Tumeurs
Type d'étude:
Prognostic_studies
Limites:
Humans
Langue:
En
Journal:
In Vivo
Sujet du journal:
NEOPLASIAS
Année:
2023
Type de document:
Article
Pays d'affiliation:
Grèce