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BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer

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Abstract

An African American individual with early onset breast cancer has a unique BRCA1 germline mutation, E1644X, that truncates the protein’s carboxy terminal region. DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins of the mutation.

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Authors and Affiliations

  1. Helen F. Graham Cancer Center, 4701 Ogletown-Stanton Road, Suite 2200, Newark, DE, 19713, USA

    S. Eric Martin & David D. Biggs

  2. Department of Medicine, Christiana Care, Newark, DE, USA

    S. Eric Martin & David D. Biggs

  3. Department of Pathology and Laboratory Medicine, Christiana Care, Newark, DE, USA

    S. Eric Martin & Abraham Joseph

  4. Department of Biological Sciences, University of Delaware, Newark, DE, USA

    Mark Sausen

  5. Sequencing & Genotyping Center, University of Delaware, Newark, DE, USA

    Brewster F. Kingham

  6. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA

    Eric S. Martin

  7. Department of Genetics and Medicine, Harvard Medical School, Boston, MA, USA

    Eric S. Martin

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  1. S. Eric Martin
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  2. Mark Sausen
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  3. Abraham Joseph
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  4. David D. Biggs
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Correspondence to S. Eric Martin.

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Martin, S.E., Sausen, M., Joseph, A. et al. BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer. Breast Cancer Res Treat 113, 393–395 (2009). https://doi.org/10.1007/s10549-008-9928-1

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  • DOI: https://doi.org/10.1007/s10549-008-9928-1

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