Original Articles
Vol. 14 (2019)
https://doi.org/10.3269/1970-5492.2019.14.18
AN INTRONIC VARIANT IN PTEN GENE IS PROBABLY INVOLVED IN SPLICING ALTERATION EVENTS
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: October 20 2025
Published: January 12 2026
Published: January 12 2026
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PTEN is a gate-keeper tumor-suppressor gene involved in various cell cycle pathways. Germline
mutations of one allele of PTEN were found associated with Cowden syndrome, which is an inherited
disease characterized by multiple hamartomas. PTEN is frequently inactivated also by somatic
mutations in various array of human tumors. In this study,a cohort of 50 Sicilian breast cancer
patients, negative to screening for pathogenic mutations in BRCA1/2 genes, was analyzed. Variant
c.492+46 G>A (rs775537003) in intron 5 of PTEN gene was identified. The possible role of this
variant in splicing mechanisms was evaluated by in silico analysis. Alteration of an ESE and ESS site
was found. This is a preliminary study with the aim to investigate about the involvement of PTEN
genein the breast cancer and the possible role of splicing alteration events into the risk of the disease
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AN INTRONIC VARIANT IN PTEN GENE IS PROBABLY INVOLVED IN SPLICING ALTERATION EVENTS. (2026). EuroMediterranean Biomedical Journal, 14. https://doi.org/10.3269/1970-5492.2019.14.18
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