by Quratul Ain,
Caroline Richardson, Miriam Mutebi, Angela George, Zoe Kemp, Jennifer E. Rusby
The Breast: Published: December 06, 2022
Background
Germline pathogenic
variants mutations) in the BRCA1 and BRCA2 genes cause an increased risk of
breast cancer and ovarian cancer. Mainstream cancer genetic testing (MCG) was
introduced for breast cancer patients in our unit in 2013. Non-geneticist
clinicians have been trained to offer genetic testing during initial treatment
planning. We assessed the impact of timely test results on surgical
decision-making.
Methods
Women who had
undergone mainstream genetic testing for breast cancer between September 2013
and September 2018 were identified from a prospective database. Surgical data
were collected retrospectively.
Results
580 eligible women
had mainstream genetic testing. For 474 this was their first breast cancer
diagnosis. The median age was 46 years (interquartile range (IQR) 38–57).
The indications were: age ≤45 years for 233 (49%); triple negative disease for
192 women (40.5%); bilateral breast cancer age <60 for 39 (8%) and other for
72 (14%) women. The median time for test initiation to result was 18 days (IQR
15-21). 302 (64% received results before surgery. 88% of those found to have a
BRCA mutation before surgery opted for bilateral mastectomy (compared to 5%
with BRCA wild type). An additional 106 patients had a new diagnosis on a
background of previous treatment. Of these all with a pathogenic variant chose
bilateral mastectomy.
Conclusion
Timely BRCA gene
testing influences surgeons’ and patients’ choice of surgery. It reassures
women with a negative result and allows those with a positive result to take an
active decision about the management of their future risk.
