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For people with newly diagnosed breast cancer, identification of a germline (heritable) mutation in a cancer predisposition gene, such as BRCA1 or BRCA2, has important treatment implications. It can inform decisions about therapy, guide future cancer prevention strategies, and facilitate risk management of their blood relatives.

According to Australian guidelines, women should be tested for germline mutations (now termed “pathogenic variants”) only when their risk of having a pathogenic variant is 10% or greater, as ascertained with algorithms such as CanRisk or the Manchester score, which take age, tumour pathology, and family history into account. In Australia, the Medicare Benefits Schedule (MBS) funds genetic testing for people at this risk threshold. As demand for testing has grown, some familial cancer centres have introduced “mainstreaming” of people at high risk, in which treating clinicians initiate genetic testing and deliver the result, and familial cancer centres become involved, when required, only after the result is known. In other models, the test result is always delivered by the genetics team. However, it has been reported that many people carrying pathogenic variants might be missed were selection for testing to rely solely on the threshold in the current guidelines.

This MJA research shares more.

Learning Outcomes

1. Explain key components of the research
2. List main findings
3. Identify the findings of the MAGIC (Mutational Assessment of newly diagnosed breast cancer using Germline and tumour genomICs) study to improve patient care.

Details

Author: Dilanka L De Silva, Lesley Stafford, Anita R Skandarajah, Michelle Sinclair, Lisa Devereux, Kirsten Hogg, Maira Kentwell, Allan Park, Luxi Lal, Magnus Zethoven, Madawa W Jayawardana, Fiona Chan, Phyllis N Butow, Paul A James, G Bruce Mann, Ian G Campbell and Geoffrey J Lindeman

Article Type: Research