• Nat Rev Clin Oncol · Dec 2010

    Review

    The role of BRCA mutation testing in determining breast cancer therapy.

    • Alison H Trainer, Craig R Lewis, Kathy Tucker, Bettina Meiser, Michael Friedlander, and Robyn L Ward.
    • Jack Brockhoff Familial Cancer Centre, Peter MacCallum Cancer Centre, 10 St Andrews Place, East Melbourne, VIC 3002, Australia.
    • Nat Rev Clin Oncol. 2010 Dec 1;7(12):708-17.

    AbstractLandmark discoveries in the field of breast cancer research include the identification of germline BRCA mutations as a cause of hereditary disease, and the use of gene-expression profiling to identify distinct subtypes of breast cancer. These findings, coupled with the availability of rapid germline testing, make it possible to identify a BRCA mutation carrier contemporaneous with a diagnosis of breast cancer. For the first time, testing for a germline mutation that predisposes to cancer has the potential to influence the immediate surgical, radiotherapeutic, and drug treatment choices of an individual with a new diagnosis of breast cancer. In this Review, we examine the implications of moving germline BRCA mutation testing from highly specialized family cancer clinics to mainstream settings.

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