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
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View abstract on PubMed
Summary
This summary is machine-generated.Limited data exists on pathogenic germline variants in BRCA1 or BRCA2 (gBRCAm) in early-stage breast cancer. While prevalence aligns with Western populations, wider screening is needed as many gBRCAm cases may be undiagnosed.
Area Of Science
- Oncology
- Genetics
- Epidemiology
Background
- Real-world data on the prevalence and outcomes of pathogenic germline variants in BRCA1 or BRCA2 (gBRCAm) in early-stage breast cancer is limited.
- Understanding gBRCAm prevalence is crucial for personalized treatment strategies and risk assessment.
Purpose Of The Study
- To investigate the real-world prevalence of gBRCAm in early-stage breast cancer patients.
- To analyze the clinical characteristics and outcomes of patients with gBRCAm compared to those with BRCA wild-type (gBRCAwt) breast cancer.
Main Methods
- An observational cohort study was conducted using data from Helsinki University Hospital (2012-2022), representing one-third of the Finnish breast cancer population.
- Included incident early-stage breast cancer patients with recorded gBRCAm testing.
- Analyzed patient demographics, tumor characteristics (HER2, HR status), and survival outcomes.
Main Results
- Of 14,696 patients, 11.2% were tested for gBRCAm, with 7.4% testing positive (n=122).
- gBRCAm patients were younger (median age 46.4 years) and had diverse tumor subtypes, including 49.5% HR+/HER2- and 37.3% triple-negative.
- No significant differences in overall survival or healthcare resource utilization were observed between gBRCAm and gBRCAwt groups.
Conclusions
- The study confirms gBRCAm prevalence in the Western early-stage breast cancer population.
- The observed lack of survival difference may be influenced by selection bias due to younger testing targets and low overall testing rates.
- A significant proportion of gBRCAm carriers may remain undiagnosed, suggesting a need for broader screening criteria.
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