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Updated: Jun 9, 2026

Detection of Aggregation-Prone Behavior in Mutant P53 V157F Breast Cancer Cells Using Multipoint Thioflavin T Fluorescence
Published on: December 30, 2025
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations
J R F Wilson1, A C Bateman, H Hanson
1Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Level G, Southampton SO16 5YA, UK. d.m.eccles@soton.ac.uk
Introduction:
The Li-Fraumeni Syndrome is caused by a germline TP53 mutation and is associated with a high risk of breast cancer at young ages. Basal (triple negative) breast cancers are now well recognised to be a typical sub-type of breast cancer developing in a large proportion of BRCA1 gene carriers. We considered whether a similar narrow sub-type of breast cancer was found in TP53 gene mutation carriers.
Objective:
A hypothesis generating study to investigate whether there are specific breast tumour characteristics associated with germline TP53 mutations.
Methods:
Pathological characteristics in 12 breast cancers arising in nine patients carrying pathogenic TP53 mutations were compared to a reference panel of 231 young onset breast tumours included in the POSH study.
Results:
Patients carrying a TP53 mutation showed a significantly higher likelihood of developing a breast cancer with Human Epidermal growth factor Receptor (HER2) amplification (83%) when compared to the cohort of young onset breast cancer cases (16%); ER and PR status were equivalent between groups.
Conclusion:
These findings suggest that breast cancer developing on a background of an inherited TP53 mutation is highly likely to present with amplification of HER2.
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