Current genetic testing guidelines may overlook patients with actionable mutations in high risk breast and ovarian cancer predisposition genes
The discovery of the BRCA1 and BRCA2 genes just over 25 years ago1 ushered in a new era of genetic testing for patients diagnosed with breast and/or ovarian cancer. A new field of practice in familial cancer emerged that has continued to evolve at an accelerating pace over the intervening years. With improvements in technology, changing patient attitudes and striking new clinical data, genetic testing may have now arrived at another defining moment — as a routine investigation for virtually all patients with newly diagnosed breast cancer (universal testing), a notion that was unimaginable a quarter of a century ago.
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Geoffrey Lindeman is supported by a National Health and Medical Research Council (NHMRC) Leadership Fellowship (1175960). The NHMRC played no role in the planning, writing or publication of this work.
No relevant disclosures.