KEY TAKEAWAYS
- The study aimed to investigate the prevalence and outcomes of pathogenic BRCA1/2 variants in patients with early-stage BC.
- Researchers noticed that similar survival outcomes among gBRCAm and gBRCAwt patients indicate a need for broader screening criteria.
Data on the real-world prevalence and outcomes for patients diagnosed with pathogenic germline variants in BRCA1 or BRCA2 (gBRCAm) breast cancer (BC) are limited.
Peeter Karihtala and the team aimed to focus on understanding these aspects within the context of early-stage BC in a Finnish population.
They performed an inclusive analysis of an observational cohort study, which included all patients diagnosed with incident early-stage BC recorded in the Helsinki University Hospital data lake from 2012 to 2022, accounting for 1/3 of the Finnish BC patient population.
About 14,696 incident early-stage BC patients were analyzed, of which 11.2% (n = 1,644) underwent testing for gBRCAm. Among the tested population, 7.4% (n = 122) were found to carry gBRCAm. Of the 122 gBRCAm patients, 95.1% (n = 116) were women, with a median age at diagnosis of 46.4 years. HER2 status was available for 87.7% (n = 107) of this patient group.
Among these, 49.5% (n = 53) had hormone receptor-positive (HR+), HER2-negative BC, 13.1% (n = 14) were HER2-positive, and 37.3% (n = 40) of patients had triple-negative breast cancer (TNBC). The tested patients were significantly younger compared to non-tested patients. No significant differences in overall survival (OS) or healthcare resource utilization were observed between the tested patients with gBRCAm and those with gBRCA wild-type (gBRCAwt).
The study concluded that while the findings support the prevalence of gBRCAm in the Western early-stage BC population, the lack of observed differences in survival between patients with gBRCAm and gBRCAwt underscores the need to address potential selection bias. Given the younger target population for gBRCAm testing and the overall low frequency of testing, it is likely that a significant number of patients with gBRCAm remain undiagnosed, highlighting the necessity for broader screening criteria.
No funding information was given for this source.
Source: https://pubmed.ncbi.nlm.nih.gov/39319938/
Karihtala P, Laatikainen O, Tuominen S, et al. (2024). “Prevalence, prognosis, and health care resource utilization in carriers of pathogenic germline variants in BRCA1/2 with incident early-stage breast cancer: a Finnish population-based study.” Acta Oncol. 2024;63:736-745. Published 2024 Sep 25. doi:10.2340/1651-226X.2024.40829
