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.

  • 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.

  • 1. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4: 665–676.
  • 2. Cancer Australia. Advice about familial aspects of breast cancer and epithelial ovarian cancer. Sydney: Cancer Australia, 2015.‐and‐resources/cancer‐australia‐publications/advice‐about‐familial‐aspects‐breast‐cancer‐and‐epithelial‐ovarian‐cancer (viewed Oct 2021).
  • 3. Tung NM, Garber JE. BRCA1/2 testing: therapeutic implications for breast cancer management. Br J Cancer 2018; 119: 141–152.
  • 4. Robson M, Im SA, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 2017; 377: 523–533.
  • 5. EviQ. BRCA1 and BRCA2 genetic testing: Cancer Institute NSW.‐genetics/adult/genetic‐testing‐for‐heritable‐pathogenic‐variants/620‐brca1‐and‐brca2‐genetic‐testing (viewed Oct 2021).
  • 6. Antoniou AC, Hardy R, Walker L, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 2008; 45: 425–431.
  • 7. Kirk J, Barlow‐Stewart KK, Poplawski NK, et al. Medicare‐funded cancer genetic tests: a note of caution. Med J Aust 2018; 209: 193–196.‐funded‐cancer‐genetic‐tests‐note‐caution
  • 8. Hu C, Hart SN, Gnanaolivu R, et al. A population‐based study of genes previously implicated in breast cancer. N Engl J Med 2021; 384: 440–451.
  • 9. Audeh MW, Carmichael J, Penson RT, et al. Oral poly(ADP‐ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof‐of‐concept trial. Lancet 2010; 376: 245–251.
  • 10. Moore K, Colombo N, Scambia G, et al. Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer. N Engl J Med 2018; 379: 2495–505.
  • 11. Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant olaparib for patients with BRCA1‐ or BRCA2‐mutated breast cancer. N Engl J Med 2021; 384: 2394–2405.
  • 12. Tung NM, Zakalik D, Somerfield MR, for the Hereditary Breast Cancer Guideline Expert Panel. Adjuvant PARP inhibitors in patients with high‐risk early‐stage HER2‐negative breast cancer and germline BRCA mutations: ASCO hereditary breast cancer guideline rapid recommendation update. J Clin Oncol 2021; 39: 2959–2961.
  • 13. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317: 2402–2416.
  • 14. Fasching PA, Yadav S, Hu C, et al. Mutations in BRCA1/2 and other panel genes in patients with metastatic breast cancer ‐association with patient and disease characteristics and effect on prognosis. J Clin Oncol 2021; 39: 1619–1630.
  • 15. Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29: 1282–1291.
  • 16. Robson M, Domchek S. Broad application of multigene panel testing for breast cancer susceptibility ‐ Pandora’s Box Is opening wider. JAMA Oncol 2019; 5: 1687–1688.
  • 17. Kemp Z, Turnbull A, Yost S, et al. Evaluation of cancer‐based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Netw Open 2019; 2: e194428.
  • 18. Beard C, Monohan K, Cicciarelli L, et al. Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre. Eur J Hum Genet 2021; 29: 872–880.


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