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J Med Genet. 2010 Nov;47(11):771-4. doi: 10.1136/jmg.2010.078113. Epub 2010 Aug 30.

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

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1
Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Level G, Southampton SO16 5YA, UK. d.m.eccles@soton.ac.uk

Erratum in

  • J Med Genet. 2011 Mar;48(3):216.

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.

PMID:
20805372
DOI:
10.1136/jmg.2010.078113
[Indexed for MEDLINE]
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