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Nat Rev Clin Oncol. 2010 Dec;7(12):708-17. doi: 10.1038/nrclinonc.2010.175. Epub 2010 Nov 9.

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

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Jack Brockhoff Familial Cancer Centre, Peter MacCallum Cancer Centre, 10 St Andrews Place, East Melbourne, VIC 3002, Australia.


Landmark 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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