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Article

[Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].

Magyar onkologia - 21 Mar 2025

Kovács Viktória, Butz Henriett-, Papp János, Pócza Tímea, Grolmusz Kornél Vince, Nagy Petra, Patócs Attila, Bozsik Anikó

Abstract excerpt

AIM: Germline pathogenic variants of TP53 are associated with Li-Fraumeni syndrome and represent a high risk for hereditary breast and ovarian cancer. We identified a germline, multi-exon heterozygous duplication variant in TP53, NM_000546.6:dup(ex2-5), in a young triple-negative breast cancer patient. We aimed to assign its pathogenicity. METHODS: DNA and RNA (cDNA) level specific amplification tests and...

Read the complete abstract on PubMed

Topics

Adult
Female
Humans
Breast Neoplasms
Gene Duplication
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Germ-Line Mutation

Li-Fraumeni Syndrome

Pedigree

Triple Negative Breast Neoplasms

Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 40117484
PMCID: PMC11929573

Genes

TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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