Universal genetic testing of patients with newly diagnosed breast cancer — ready for prime time?

Dilanka L De Silva, Paul A James, G Bruce Mann and Geoffrey J Lindeman
Med J Aust 2021; 215 (10): . || doi: 10.5694/mja2.51317
Published online: 15 November 2021

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.

  • Dilanka L De Silva1,2
  • Paul A James1,3
  • G Bruce Mann3,4,5
  • Geoffrey J Lindeman1,3,6

  • 1 Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC
  • 2 Memorial Sloan Kettering Cancer Center, New York, USA
  • 3 University of Melbourne, Melbourne, VIC
  • 4 Royal Melbourne and Royal Women's Hospitals, Melbourne, VIC
  • 5 Peter MacCallum Cancer Centre, Melbourne, VIC
  • 6 Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC



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.

Competing interests:

No relevant disclosures.


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