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

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...

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Autores principales: Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440986/
https://www.ncbi.nlm.nih.gov/pubmed/34539758
http://dx.doi.org/10.3389/fgene.2021.734809
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author Paduano, Francesco
Fabiani, Fernanda
Colao, Emma
Trapasso, Francesco
Perrotti, Nicola
Barbieri, Vito
Baudi, Francesco
Iuliano, Rodolfo
author_facet Paduano, Francesco
Fabiani, Fernanda
Colao, Emma
Trapasso, Francesco
Perrotti, Nicola
Barbieri, Vito
Baudi, Francesco
Iuliano, Rodolfo
author_sort Paduano, Francesco
collection PubMed
description 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.
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spelling pubmed-84409862021-09-16 Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome Paduano, Francesco Fabiani, Fernanda Colao, Emma Trapasso, Francesco Perrotti, Nicola Barbieri, Vito Baudi, Francesco Iuliano, Rodolfo Front Genet Genetics 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. Frontiers Media S.A. 2021-09-01 /pmc/articles/PMC8440986/ /pubmed/34539758 http://dx.doi.org/10.3389/fgene.2021.734809 Text en Copyright © 2021 Paduano, Fabiani, Colao, Trapasso, Perrotti, Barbieri, Baudi and Iuliano. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Paduano, Francesco
Fabiani, Fernanda
Colao, Emma
Trapasso, Francesco
Perrotti, Nicola
Barbieri, Vito
Baudi, Francesco
Iuliano, Rodolfo
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title_full Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title_fullStr Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title_full_unstemmed Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title_short Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
title_sort case report: identification of a novel pathogenic germline tp53 variant in a family with li–fraumeni syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440986/
https://www.ncbi.nlm.nih.gov/pubmed/34539758
http://dx.doi.org/10.3389/fgene.2021.734809
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