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Article

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

Carcinogenesis - 1 Sept 2017

Franceschi Sara, Spugnesi Laura, Aretini Paolo, Lessi Francesca, Scarpitta Rosa, Galli Alvaro, Congregati Caterina, Caligo Maria Adelaide, Mazzanti Chiara Maria

Abstract excerpt

Li-Fraumeni syndrome is a clinically heterogeneous familial cancer predisposition syndrome with autosomal-dominant inheritance caused by heterozygous germline mutations in the TP53 gene. We here analyze the genetic background of a family with a 4-year-proband presented with a Li-Fraumeni tumor. The mother developed breast cancer at age 37 and the proband died at age 8. We performed Sanger sequencing and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28911001
DOI: 10.1093/carcin/bgx069

Genes

ERCC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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