Mosaic TP53 pathogenic variant in early-onset breast cancer: a case report
Luana Greco, Chiara Miggiano, Arianna Dal Buono, Monica Barile, Riccardo Borroni, Giovambattista Rodà, Armando Santoro, Alessandro Repici, Pietro Cavalli, Paolo Bianchi · 2026
Read Mosaic TP53 pathogenic variant in early-onset breast cancer: a case report by Luana Greco, Chiara Miggiano, Arianna Dal Buono, Monica Barile, Riccardo Borroni, Giovambattista Rodà, Armando Santoro, Alessandro Repici, Pietro Cavalli, Paolo Bianchi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13193960.txt.
Description
Luana Greco and colleagues describe a two thousand twenty-six case report of a mosaic cancer-risk gene variant in a young breast cancer patient. Li-Fraumeni syndrome stems from faults in the TP53 guardian gene. Modern testing often finds such variants at low levels, which can mislead.
Their patient was thirty, with early hormone-sensitive breast cancer. Blood testing found the faulty variant in only a fraction of cells. That pattern could mean mosaicism or blood-cell artefacts. Cheek cells, skin cells, and gut lining all carried it too. Presence across tissue layers proved a true early mosaic change, guiding counselling.
Catalog record
| CREATOR | Luana Greco, Chiara Miggiano, Arianna Dal Buono, Monica Barile, Riccardo Borroni, Giovambattista Rodà, Armando Santoro, Alessandro Repici, Pietro Cavalli, Paolo Bianchi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |