Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

ABSTRACT:

Background

Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed.

Case report

We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who wa

SUBMITTER: Kast K 

PROVIDER: S-EPMC3487792 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature