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Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

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Abstract

De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.

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Fig. 1

Abbreviations

BIC:

Breast Cancer Information Core

CSCE:

Conformation sensitive capillary electrophoresis

dHPLC:

Denaturing high performance liquid chromatography

ER+:

Oestrogen receptor positive

HER2:

Human epidermal growth factor receptor 2

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Acknowledgements

All laboratory work was carried out at Wessex Regional Genetics Laboratory. Catharina Yearwood has subsequently moved to St George’s Hospital.

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Authors and Affiliations

  1. Wessex Clinical Genetics Service, Princess Anne Hospital, Level G, Mailpoint 105, Coxford Road, Southampton, Hampshire, SO16 5YA, UK

    Emma Edwards, Diana Baralle & Diana Eccles

  2. Molecular Genetics Diagnostics Laboratory, St Georges Hospital, London, UK

    Catharina Yearwood

  3. Wessex Regional Genetics Laboratory, Salisbury, UK

    Julie Sillibourne

Authors
  1. Emma Edwards
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  2. Catharina Yearwood
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  3. Julie Sillibourne
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  4. Diana Baralle
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  5. Diana Eccles
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Corresponding author

Correspondence to Emma Edwards.

Additional information

Prof Nazneen Rahman, UK Familial Breast Cancer Study, Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey, SM2 5NG

The Breast Cancer Information Core (BIC) Database http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/Member/index.html

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Edwards, E., Yearwood, C., Sillibourne, J. et al. Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Familial Cancer 8, 479–482 (2009). https://doi.org/10.1007/s10689-009-9270-8

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  • DOI: https://doi.org/10.1007/s10689-009-9270-8

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