Background
5-10% of Breast Cancer (BC) cases are secondary to hereditary breast cancer (HBC) syndromes. There are established criteria for germline genetic testing which can impact on BC treatment, risk-reducing strategy, and surveillance. However, identification by oncologists remains suboptimal in a busy practice. An APN-led BC Survivorship Clinic can potentially fill this gap.
Methods
Early-stage BC survivors 3y from diagnosis were referred to the APN-led Clinic for survivorship care. Patients in the following groups were identified for referral to the Cancer Genetics Service (CGS): BC diagnosed ≤50y, Triple Negative or bilateral BC < 60y, BC with personal and/or family history of breast/ovarian/prostate/pancreas cancers.
Results
101/324 patients seen in the APN-led Clinic from Feb 2023 – May 2024 were found to be at risk of HBC. Median age of BC diagnosis was 46y (range 25 - 61), majority in Stage 1/2 (75.2%) with the most common subtype being hormone receptor positive/HER2-negative (55.4%). 62/101 (61.4%) had positive family history of breast/ovarian/pancreas/prostate cancers. Of 101 high-risk patients, only 23.8% (24/101) were previously identified by oncologists. 43.6% (44/101) were counselled on the risk of HBC by the APN, of which 31.8% (14/44) accepted referral to the CGS. 5/14 (35.7%) eventually underwent germline genetic testing, all of whom had no pathogenic variants found which informed risk management for the patients and their families. Majority of the patients declined CGS referral or genetic testing due to financial concerns and fear of the burden of genetic information.
Conclusion
More than three-quarters of BC survivors at risk of HBC were not identified by oncologists during the initial 3 years of treatment. APN-led survivorship care can improve identification of high-risk patients, but less than one-third ultimately undergo genetic testing. Upskilling APNs to provide genetic counselling and testing in the clinic can potentially increase uptake.