Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome

Francesco Paduano; Fernanda Fabiani; Emma Colao; Francesco Trapasso; Nicola Perrotti; Vito Barbieri; Francesco Baudi; Rodolfo Iuliano

doi:10.3389/fgene.2021.734809

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome

Front Genet. 2021 Sep 1:12:734809. doi: 10.3389/fgene.2021.734809. eCollection 2021.

Authors

Francesco Paduano^{1

2

3}, Fernanda Fabiani¹, Emma Colao¹, Francesco Trapasso^{1

4}, Nicola Perrotti^{1

2}, Vito Barbieri⁵, Francesco Baudi⁴, Rodolfo Iuliano^{1

2}

Affiliations

¹ Medical Genetics Unit, University "Magna Graecia", Catanzaro, Italy.
² Department of Health Sciences, University "Magna Graecia", Catanzaro, Italy.
³ Tecnologica Research Institute and Marrelli Health, Biomedical Section, Stem Cells and Medical Genetics Units, Crotone, Italy.
⁴ Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Catanzaro, Italy.
⁵ Medical Oncology Unit, Mater Domini Hospital, Catanzaro, Italy.

Abstract

Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs^*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.

Keywords: LFS cancers; Li-Fraumeni; TP53; germline TP53 variant; targeted sequencing.

Publication types

Case Reports