Li-Fraumeni Syndrome: Mutation of Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2022 Aug 12

PMID 35954327

Authors

Valentina Rocca

Giovanni Blandino

Lucia DAntona

Rodolfo Iuliano

Silvia Di Agostino

Affiliations

Soon will be listed here.

Abstract

Li-Fraumeni syndrome (LFS) is a rare familial tumor predisposition syndrome with autosomal dominant inheritance, involving germline mutations of the tumor suppressor gene. The most frequent tumors that arise in patients under the age of 45 are osteosarcomas, soft-tissue sarcomas, breast tumors in young women, leukemias/lymphomas, brain tumors, and tumors of the adrenal cortex. To date, no other gene mutations have been associated with LFS. The diagnosis is usually confirmed by genetic testing for the identification of mutations; therefore, these mutations are considered the biomarkers associated with the tumor spectrum of LFS. Here, we aim to review novel molecular mechanisms involved in the oncogenic functions of mutant p53 in LFS and to discuss recent new diagnostic and therapeutic approaches exploiting mutations as biomarkers and druggable targets.

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