Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution.

doi:10.1136/jmg-2025-111449

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Article

Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution.

Journal of medical genetics - 26 Aug 2026

Andersson Amalie Noergaard, Byrjalsen Anna, Tuxen Ida Elisabeth Viller, Andersen Mette Klarskov, Hansen Thomas van Overeem, Wadt Karin A W

Abstract excerpt

We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant allele frequency of 19% in blood, initially missed by panel sequencing. Case 2 concerns a 59-year-old female with multiple primary tumours and two identical TP53...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42264930
DOI: 10.1136/jmg-2025-111449

Genes

TP53
ERCC6L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.