Search Results (4)

Purpose: To effectively reduce cancer burden, genetic testing programs should identify high-risk individuals prior to cancer development, when risk-reduction strategies can be implemented. We evaluated trends in BRCA1/BRCA2 testing use after implementation of a publicly funded testing program. Methods: We conducted a retrospective, near population-based study of women who underwent BRCA1/BRCA2 testing in Ontario, Canada, (2007–2016) (n = 15,986). Temporal trends were evaluated using linear and Poisson regression. Results: Although annual utilization of testing increased over time (p < 0.001), mean age at testing increased from 49.9 years (SD 13.8) in 2007 to 53.8 years (SD 13.7) in 2016 (p < 0.001). The proportion of women with a cancer history at testing also increased from 53.5% in 2007 to 66.3% in 2015 (p < 0.001); the proportion of women free from breast cancer did not change significantly (49.2% in 2007 versus 45.1% in 2015, p = 0.90). As a proportion of all tested, those with breast cancer tested within 3 months of diagnosis increased over time (0.39% of tests in 2007 versus 13.6% of tests in 2015; p < 0.001). Conclusions: While the institution of a publicly funded genetic testing program was associated with rising utilization, increasing age at testing and decreasing testing of unaffected women suggest limitations in identifying high-risk individuals eligible for risk-reduction. Full article

Pathogenic variants in breast cancer predisposition genes are associated with poor clinical outcomes but also offer an opportunity for more individualized therapeutic pathways. Given increasing knowledge, improvements in germline genetic testing efficiency, and the availability of novel systemic targeted treatment options, the importance of appropriately identifying patients for testing has never been greater. A pan-Canadian expert working group (EWG) consisting of 10 healthcare professionals (HCPs) was convened to review recent international guidelines for germline genetic testing in breast cancer and develop Canadian recommendations. The group identified four clinical questions to address which patients should undergo testing, what approaches should be used, how patients should be counselled, and what steps are needed for implementation. In response to these questions, the EWG agreed upon 12 recommendations that emphasized broader incorporation of germline genetic testing and more standardized, streamlined testing and counselling approaches. The group also offered multiple suggestions to support effective and equitable implementation across Canada. These recommendations provide guidance for HCPs and represent a call to action for the Canadian government and other organizations to support genetic testing pathways, drug access, and ultimately improved outcomes for patients with breast cancer and their families. Full article

Background: Breast cancer (BC) patients with germline BRCA1/2 pathogenic variants (PVs) often face unique challenges compared to non-carriers. However, the impact of PVs on treatment patterns, clinical outcomes, and quality of life (QoL) remains insufficiently explored. This study aims to assess these factors in these individuals. Methods: A retrospective analysis was conducted using data from the Medical University of Vienna Center for Familial Breast and Ovarian Cancer between 2011 and 2021. Among 1285 individuals identified, 338 were included (120 BRCA1 PVs, 47 BRCA2 PVs, and 171 non-carriers). Clinical data including treatment patterns and outcomes were collected; QoL was assessed in BRCA1/2 PV carriers using the SF-12 questionnaire. Results: Among 338 BC patients, BRCA1 PV carriers were significantly younger at disease onset and more likely to present with triple-negative BC, with higher Ki-67 (>10%) than BRCA2 or non-carriers. Platinum-based chemotherapy was more frequently administered to BRCA PV carriers for neoadjuvant treatment (OR 7.7, p < 0.001), and therapeutic bilateral mastectomy was more common in BRCA1 carriers (44.7%) compared to BRCA2 (37.8%, p = 0.114) and non-carriers (25.2%, p = 0.003). Epirubicin was the primary agent for adjuvant chemotherapy across all groups compared to other chemotherapeutic agents. QoL assessments revealed significant physical health challenges, particularly among those who underwent neoadjuvant chemotherapy and surgery, while mental health scores remained relatively high. Conclusions: This study highlights the distinct treatment patterns and tumor characteristics associated with BRCA1/2 carriers, including the impact of treatments on quality of life. Nevertheless, our findings ought to be interpreted with caution due to the small sample size. Larger prospective studies with more complete treatment data, including PARP inhibitor use, and further research on supportive care strategies are needed for this high-risk population. Full article