BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

L. Robertson, H. Hanson, S. Seal, M. Warren-Perry, D. Hughes, I. Howell, C. Turnbull, R. Houlston, S. Shanley, S. Butler, D. G. Evans, G. Ross, D. Eccles, A. Tutt, N. Rahman

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Background: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing. We have evaluated the BRCA1 mutation frequency and the implications for clinical practice of undertaking genetic testing in women with TN breast cancer. Methods: We undertook BRCA1 mutation analysis in 308 individuals with TN breast cancer, 159 individuals from unselected series of breast cancer and 149 individuals from series ascertained on the basis of young age and/or family history. Results :BRCA1 mutations were present in 45 out of 308 individuals. Individuals with TN cancer 10% likelihood of carrying a BRCA1 mutation in both the unselected (11 out of 58, 19%) and selected (26 out of 111, 23%) series. However, over a third would not have been offered testing using existing criteria. We estimate that testing all individuals with TN breast cancer 10% likelihood of carrying a BRCA1 mutation and are therefore eligible for testing in most centres. However, implementation may place short-term logistical and financial burdens on genetic services. © 2012 Cancer Research UK All rights reserved.
    Original languageEnglish
    Pages (from-to)1234-1238
    Number of pages4
    JournalBritish Journal of Cancer
    Volume106
    Issue number6
    DOIs
    Publication statusPublished - 13 Mar 2012

    Keywords

    • BRCA1
    • breast cancer
    • genetic testing
    • triple-negative

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