A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations: Table 1

Wilson, J R F; Bateman, A C; Hanson, H; An, Q; Evans, G; Rahman, N; Jones, J L; Eccles, D M

doi:10.1136/jmg.2010.078113

Cited by 122BRCA gene mutations in cancerBreast Lesions and CarcinomasBreast Cancer Treatment Studies

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations: Table 1

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Wilson, J R F, Bateman, A C, Hanson, H, An, Q, Evans, G, Rahman, N, Jones, J L, Eccles, D M·2010·Journal of Medical Genetics

DOI 10.1136/jmg.2010.078113

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Abstract

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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More than 60% of breast cancers in germline TP53 carriers are ERBB2/HER2 amplified, and complex structural rearrangements are suggested to drive amplification in such cancers.
“Interestingly, >60% of BC in germline TP53 carriers are ERBB2/HER2 amplified [30] and complex structural rearrangements are suggested to drive amplification in such cancers [29].”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [30]

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“Interestingly, >60% of BC in germline TP53 carriers are ERBB2/HER2 amplified [30] and complex structural rearrangements are suggested to drive amplification in such cancers [29].”
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Authors: Wilson, J. R. F., Bateman, A. C., Hanson, H., An, Q., Evans, G., Rahman, N., Jones, J. L., & Eccles, D. M.
Affiliations: Princess Anne Hospital (GB)
Southampton General Hospital (GB)
Institute of Cancer Research (GB)
University of Southampton (GB)
Manchester Academic Health Science Centre (GB)
Corresponding author: Eccles, D M
ORCID: Wilson, J R F
Bateman, A C
Hanson, H
Rahman, N
Jones, J L
Eccles, D M
Venue: Journal of Medical Genetics
Publisher: BMJ
Published: 2010-08-30
Volume: 47
Issue: 11
Pages: 771-774
ISSN: 0022-2593 (ISSN-L)
1468-6244
DOI: 10.1136/jmg.2010.078113
OpenAlex: W2158396332
Cited by: 122
References: 34
Citations by year: 2026: 2 · 2025: 5 · 2024: 8 · 2023: 3 · 2022: 8 · 2021: 12 · 2020: 14 · 2019: 6 · 2018: 7 · 2017: 9 · 2016: 6 · 2015: 9 · 2014: 5 · 2013: 9 · 2012: 11
FWCI: 5.04
Type: journal article
Language: en
Open access: green
hal.science
Licence: other-oa
Locations: Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion, other-oa)
ePrints Soton (University of Southampton) (submittedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
Funders: Cancer Research UK
Breast Cancer Campaign
University of Southampton
Imperial Experimental Cancer Medicine Centre
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
Keywords: HER2-positive breast cancer, germline TP53 mutation, Li-Fraumeni syndrome, early-onset breast cancer, HER2 amplification, breast cancer subtypes, hereditary cancer predisposition, triple-negative breast cancer
MeSH terms: Adult, Breast Neoplasms, DNA Mutational Analysis, Female, Gene Amplification, Humans, Immunohistochemistry, Tumor Suppressor Protein p53, Li-Fraumeni Syndrome, In Situ Hybridization, Germ-Line Mutation, Receptor, ErbB-2, Erb-b2 Receptor Tyrosine Kinases, Young Adult

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A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations: Table 1

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